Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Nougues MC"'
Autor:
An-Sofie Schoonjans, Christina Fenger, Joseph Toulouse, Nathalie Villeneuve, Marie-Christine Nougues, Martina Fiannacca, Wen-Hann Tan, Rikke S. Møller, Boudewijn Gunning, Julitta de Bellescize, David Bearden, Federico Zara, Hiltrud Muhle, Gaetan Lesca, Sarah Weckhuysen, Guido Rubboli, Berten Ceulemans, Tobias Baumgartner, Frauke Hornemann, Steffen Syrbe, Leanne M. Dibbens, Hannah Stamberger, Catherine Sarret, Maria Margherita Mancardi, Edouard Hirsch, Salvatore Buono, Chiara Reale, Kern Olofsson, Elena Gardella, Claudia M Bonardi, Hélène Maurey, Henrike O. Heyne, Fabienne Picard, Stéphanie Baulac, Pasquale Striano, Geneviève Demarquay, Fabrice Bartolomei, Antonietta Coppola, Massimiliano Rossi, Vincent des Portes, Hester Y. Kroes, Mark Fitzgerald, Nienke E. Verbeek, David A. Koolen, Caroline Nava, Dorothée Ville, Marjolaine Willems, Cecilia Altuzarra
Publikováno v:
Brain
Brain, 144, pp. 3635-3650
Bonardi, C M, Heyne, H O, Fiannacca, M, Fitzgerald, M P, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N, Stamberger, H, Striano, P, Zara, F, Mancardi, M M, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A-S, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, M-C, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, C D, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, D A, Kroes, H Y, Reale, C, Fenger, C D, Tan, W-H, Dibbens, L, Bearden, D R, Møller, R S & Rubboli, G 2021, ' KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum ', Brain : a journal of neurology, vol. 144, no. 12, pp. 3635-3650 . https://doi.org/10.1093/brain/awab219
Brain, Vol. 144, No 12 (2021) pp. 3635-3650
Brain, 144, 3635-3650
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, 144 (12), pp.3635-3650. ⟨10.1093/brain/awab219⟩
Brain, 144, pp. 3635-3650
Bonardi, C M, Heyne, H O, Fiannacca, M, Fitzgerald, M P, Gardella, E, Gunning, B, Olofsson, K, Lesca, G, Verbeek, N, Stamberger, H, Striano, P, Zara, F, Mancardi, M M, Nava, C, Syrbe, S, Buono, S, Baulac, S, Coppola, A, Weckhuysen, S, Schoonjans, A-S, Ceulemans, B, Sarret, C, Baumgartner, T, Muhle, H, des Portes, V, Toulouse, J, Nougues, M-C, Rossi, M, Demarquay, G, Ville, D, Hirsch, E, Maurey, H, Willems, M, de Bellescize, J, Altuzarra, C D, Villeneuve, N, Bartolomei, F, Picard, F, Hornemann, F, Koolen, D A, Kroes, H Y, Reale, C, Fenger, C D, Tan, W-H, Dibbens, L, Bearden, D R, Møller, R S & Rubboli, G 2021, ' KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum ', Brain : a journal of neurology, vol. 144, no. 12, pp. 3635-3650 . https://doi.org/10.1093/brain/awab219
Brain, Vol. 144, No 12 (2021) pp. 3635-3650
Brain, 144, 3635-3650
Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2021, 144 (12), pp.3635-3650. ⟨10.1093/brain/awab219⟩
Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermoto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5a5f969c528f80b314ded91f30e0ad4
https://pubmed.ncbi.nlm.nih.gov/36285205
https://pubmed.ncbi.nlm.nih.gov/36285205
Autor:
Desguerre I; IHU Imagine, Paris University, 24, Boulevard du Montparnasse, 75015, Paris, France.; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, AP-HP, Hôpital Necker-Enfants Malades, 149 rue de sèvres, 75015, Paris, France., Barrois R; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, AP-HP, Hôpital Necker-Enfants Malades, 149 rue de sèvres, 75015, Paris, France. remi.barrois@aphp.fr., Audic F; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Hôpital Timone Enfants, 264 rue Saint-Pierre, 13385, Marseille, France., Barnerias C; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, AP-HP, Hôpital Necker-Enfants Malades, 149 rue de sèvres, 75015, Paris, France., Chabrol B; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Hôpital Timone Enfants, 264 rue Saint-Pierre, 13385, Marseille, France., Davion JB; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Lille University Hospital Center, 2 avenue Oscar Lambret, 59000, Lille, France., Durigneux J; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Angers University Hospital Center, 4 rue Larrey, 49933, Angers, France., Espil-Taris C; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Pellegrin University Hospital Center, Hôpital des Enfants, place Amélie-Raba-Léon, 33086, Bordeaux, France., Gomez-Garcia de la Banda M; Pediatric Neurology and ICU Department, Garches Reference Center for Neuromuscular Diseases (NEIF for FILNEMUS; RPC for Euro-NMD ERN), AP-HP Paris-Saclay Université, Hôpital Raymond Poincaré (UVSQ), 104 boulevard Raymond Poincaré, 92380, Garches, France., Guichard M; Department of Pediatric Neurology and Handicaps, French Competence Center for Neuromuscular Diseases, Boulevard Tonnellé, Hôpital Clocheville, 2 Boulevard Tonnellé, 37000, Tours, France., Isapof A; Department of Pediatric Neurology, AP-HP, French Reference Center for Neuromuscular Diseases, Hôpital Armand Trousseau, 26 avenue du Docteur Arnold-Netter, 75012, Paris, France., Nougues MC; Department of Pediatric Neurology, AP-HP, French Reference Center for Neuromuscular Diseases, Hôpital Armand Trousseau, 26 avenue du Docteur Arnold-Netter, 75012, Paris, France., Laugel V; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Strasbourg University Hospital Center, Hôpital de Hautepierre, 1 avenue Molière, 67098, Strasbourg, France., Le Goff L; Department of Neuromuscular Pathology, French Reference Center for Neuromuscular Diseases, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, -Bron, 59 boulevard Pinel, 69677, Lyon-Bron, France., Mercier S; Department of Medical Genetics, French Reference Center for Neuromuscular Diseases, Nantes University Hospital Center, 1 Place Alexis-Ricordeau, 44093, Nantes, France., Pervillé A; Department of Pediatrics, French Competence Center for Neuromuscular Diseases, Hôpital d'Enfants ASFA, CS 81010, 97404, Saint Denis Cedex, Réunion, France., Richelme C; Department of Pediatric Neurology, French Reference Center for Neuromuscular Diseases, Nice University Hospital Center, Hôpital Lenval, 57 Avenue de la Californie, 06200, Nice, France., Thibaud M; Department of Pediatrics, French Reference Center for Neuromuscular Diseases, American Memorial Hospital, Reims University Hospital Center, 49 Rue Cognacq Jay, 51092, Reims, France., Sarret C; CMR Neuromusculaire, French Reference Center for Neuromuscular Diseases, Clermont-Ferrand University Hospital Center, Clermont-Ferrand, France., Schweitzer C; Department of Infant Medicine, French Reference Center for Neuromuscular Diseases, Nancy University Hospital Center, Rue du Morvan, 54511, Vandoeuvre lès Nancy, France., Testard H; Department of Pediatric Neurology, French Competence Center for Neuromuscular Diseases, Grenoble University Hospital Center, Hôpital Couple Enfant, Quai Yermolof, 38700, Grenoble, France., Trommsdorff V; Department of Pediatrics, French Reference Center for Neuromuscular Diseases, University Hospital Center, Avenue François Mitterrand, BP 350, 97448, Saint Pierre Cedex, Réunion, France., Vanhulle C; Department of Pediatrics, French Competence Center for Neuromuscular Diseases, Rouen University Hospital Center, Charles Nicolle, 1 Rue de Germont, 76031, Rouen, France., Walther-Louvier U; Department of Pediatric Neurology, French Greater South‒West Reference Center for Neuromuscular Diseases, Hôpital Gui de Chauliac, University Hospital Center Montpellier, 80 Avenue Augustin Fliche, 34295, Montpellier, France., Altuzarra C; Department of Pediatrics, French Reference Center for Neuromuscular Diseases, Besançon University Hospital Center - Hôpital Jean Minjoz, 3 boulevard A. Fleming, 25030, Besançon, France., Chouchane M; Department of Pediatric Neurology, French Competence Center for Neuromuscular Diseases, Dijon University Hospital Center, Hôpital d'Enfants, 14 rue Paul Gaffarel, 21079, Dijon, France., Ropars J; LaTIM INSERM UMR 1101, French Reference Center for Neuromuscular Diseases Brest University Hospital Center, Hôpital Morvan, Boulevard Tanguy Prigent, 29609, Brest, France., Quijano-Roy S; Pediatric Neurology and ICU Department, Garches Reference Center for Neuromuscular Diseases (NEIF for FILNEMUS; RPC for Euro-NMD ERN), AP-HP Paris-Saclay Université, Hôpital Raymond Poincaré (UVSQ), 104 boulevard Raymond Poincaré, 92380, Garches, France., Cances C; Department of Pediatric Neurology, French Greater South‒West Reference Center for Neuromuscular Diseases, Hôpital des Enfants, University Hospital Center Toulouse, 330 av de Grande Bretagne-TSA, 31059, Toulouse, France.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 13; Vol. 19 (1), pp. 344. Date of Electronic Publication: 2024 Sep 13.
Autor:
Audic F; Centre de Référence des Maladies Neuromusculaires de l'enfant PACARARE, Service de Neuropédiatrie, Hôpital Timone Enfants, 264 rue Saint Pierre, 13385, Marseille Cedex 5, France. Electronic address: frederique.audic@ap-hm.fr., Dubois SM; Centre de Référence des Maladies Neuromusculaires de l'enfant PACARARE, Service de Neuropédiatrie, Hôpital Timone Enfants, 264 rue Saint Pierre, 13385, Marseille Cedex 5, France., Durigneux J; Centre de Référence des Maladies Neuromusculaires AOC, CHU d'Angers, Angers, France., Barnerias C; Centre de Référence des Maladies Neuromusculaires Nord/Ile de France/Est, Service de Neurologie pédiatrique, Hôpital Necker-Enfants Malades, APHP, Paris, France., Isapof A; Centre de Référence des Maladies Neuromusculaires Nord/Ile de France/Est, Service de Neuropédiatrie, Hôpital Trousseau, APHP, Paris, France., Nougues MC; Centre de Référence des Maladies Neuromusculaires Nord/Ile de France/Est, Service de Neuropédiatrie, Hôpital Trousseau, APHP, Paris, France., Davion JB; Centre de Référence des Maladies Neuromusculaires Nord/Ile de France/Est, Service de Neuropédiatrie, Hôpital Salengro CHU Lille, Lille, France., Richelme C; Centre de Référence des Maladies Neuromusculaires PACARARE, Hôpitaux Pédiatriques de Nice CHU - Lenval, Nice, France., Vuillerot C; Centre de Référence des Maladies Neuromusculaires de l'enfant PACARARE, Service de MPR pédiatrique L'Escale Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France., Legoff L; Centre de Référence des Maladies Neuromusculaires de l'enfant PACARARE, Service de MPR pédiatrique L'Escale Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, France., Sabouraud P; Centre de Référence des Maladies Neuromusculaires Nord/Ile de France/Est, Site Reims enfant AMH, CHU Reims, Reims, France., Cances C; Centre de Référence des Maladies Neuromusculaires AOC, Unité de Neurologie Pédiatrique, Hôpital des Enfants CHU Toulouse, Toulouse, France., Laugel V; Centre de Référence des Maladies Neuromusculaires Nord/Ile de France/Est, Pédiatrie médico-chirurgicale, CHU de Strasbourg - Hôpital de Hautepierre, Strasbourg, France., Ropars J; Centre de Référence des Maladies Neuromusculaires AOC, Service de Pédiatrie, CHRU de Brest, Brest, France., Espil-Taris C; Centre de Référence des Maladies Neuromusculaires AOC, Unité de Neurologie pédiatrique, CHU Pellegrin, Bordeaux, France., Trommsdorff V; Centre de Référence des Maladies Neuromusculaires PACARARE, Service de Pédiatrie, CHU La Réunion, Saint-Pierre, France., Pervillé A; Centre de Compétence des Maladies Neuromusculaires PACARARE, Service de Pédiatrie, CHU La Réunion, Saint-Denis, France., Garcia-de-la-Banda MG; Centre de Référence des Maladies Neuromusculaires Nord/Ile de France/Est, Hôpital Raymond Poincaré, APHP, Garches, France., Testard H; Centre de Compétence des Maladies Neuromusculaires PACARARE, Neuropédiatrie, Clinique Universitaire Pédiatrique, Hôpital Couple Enfant - CHU Grenoble, Grenoble, France., Chouchane M; Centre de Compétence des Maladies Neuromusculaires Nord/Ile de France/Est, Service de pédiatrie 1, Hôpital d'Enfants, CHU Dijon Bourgogne, Dijon, France., Walther-Louvier U; Centre de Référence des Maladies Neuromusculaires AOC, Service de Neuropédiatrie CHU Montpellier, Montpellier, France., Schweizer C; Centre de Référence des Maladies Neuromusculaires Nord/Ile de France/Est, CHRU de Nancy, Hôpital d'Enfants, Vandoeuvre-Lès, Nancy, France., Halbert C; Centre de Référence des Maladies Neuromusculaires de l'enfant PACARARE, Service de Neuropédiatrie, Hôpital Timone Enfants, 264 rue Saint Pierre, 13385, Marseille Cedex 5, France., Badri M; Centre de Référence des Maladies Neuromusculaires de l'enfant PACARARE, Service de Neuropédiatrie, Hôpital Timone Enfants, 264 rue Saint Pierre, 13385, Marseille Cedex 5, France., Quijano-Roy S; Centre de Référence des Maladies Neuromusculaires Nord/Ile de France/Est, Hôpital Raymond Poincaré, APHP, Garches, France., Chabrol B; Centre de Référence des Maladies Neuromusculaires de l'enfant PACARARE, Service de Neuropédiatrie, Hôpital Timone Enfants, 264 rue Saint Pierre, 13385, Marseille Cedex 5, France., Desguerre I; Centre de Référence des Maladies Neuromusculaires Nord/Ile de France/Est, Service de Neurologie pédiatrique, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie [Arch Pediatr] 2024 Feb; Vol. 31 (2), pp. 117-123. Date of Electronic Publication: 2023 Dec 21.
Autor:
Masingue M; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France.; Service de Neuromyologie, Centre de Référence Neuromusculaire, APHP, Paris, France., Cattaneo O; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France.; Department of Cell Physiology and Metabolism, University of Geneva, Geneva, Switzerland., Wolff N; Institut Pasteur, Channel Receptors Unit, UMR CNRS 3571, Université de Paris, Paris, France., Buon C; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France., Sternberg D; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France.; Service de Biochimie Métabolique, UF Cardiogenetics and Myogenetics, Hôpital de la Pitié-Salpêtrière, APHP, Paris, France., Euchparmakian M; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France., Boex M; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France., Behin A; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France.; Service de Neuromyologie, Centre de Référence Neuromusculaire, APHP, Paris, France., Mamchaouhi K; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France., Maisonobe T; Département de Neurophysiologie Clinique, Centre de Référence des Pathologies Neuromusculaires, Hôpital de la Pitié-Salpêtrière, APHP, Paris, France., Nougues MC; Département de Neuropédiatrie, Centre de Référence des Pathologies Neuromusculaires, Hôpital Trousseau, APHP, Paris, France., Isapof A; Département de Neuropédiatrie, Centre de Référence des Pathologies Neuromusculaires, Hôpital Trousseau, APHP, Paris, France., Fontaine B; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France.; Service de Neuromyologie, Centre de Référence Canalopathie, Hôpital de la Pitié-Salpêtrière, APHP, Paris, France., Messéant J; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France., Eymard B; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France., Strochlic L; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France., Bauché S; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France. stephanie.godard-bauche@sorbonne-universite.fr.
Publikováno v:
Scientific reports [Sci Rep] 2023 Aug 28; Vol. 13 (1), pp. 14054. Date of Electronic Publication: 2023 Aug 28.
Autor:
Cheminelle M; Pediatric Pulmonology Department, Armand Trousseau Hospital, APHP, Sorbonne University, 26, avenue du Docteur Arnold Netter, 75012 Paris, France., Nougues MC; Pediatric Neurology Department, Reference Centre for Neuromuscular Diseases, Armand Trousseau Hospital, APHP, Sorbonne University, 26, avenue du Docteur Arnold Netter, 75012 Paris, France., Isapof A; Pediatric Neurology Department, Reference Centre for Neuromuscular Diseases, Armand Trousseau Hospital, APHP, Sorbonne University, 26, avenue du Docteur Arnold Netter, 75012 Paris, France., Aubertin G; Pediatric Pulmonology Department, Armand Trousseau Hospital, APHP, Sorbonne University, 26, avenue du Docteur Arnold Netter, 75012 Paris, France; Sorbonne University, Centre de Recherche Saint-Antoine (CRSA), Inserm UMR_S938, 184 rue du Faubourg Saint-Antoine, 75012 Paris, France., Corvol H; Pediatric Pulmonology Department, Armand Trousseau Hospital, APHP, Sorbonne University, 26, avenue du Docteur Arnold Netter, 75012 Paris, France; Sorbonne University, Centre de Recherche Saint-Antoine (CRSA), Inserm UMR_S938, 184 rue du Faubourg Saint-Antoine, 75012 Paris, France., Beydon N; Sorbonne University, Centre de Recherche Saint-Antoine (CRSA), Inserm UMR_S938, 184 rue du Faubourg Saint-Antoine, 75012 Paris, France; Functional Unit of Respiratory and Sleep Physiology and Functional Explorations Armand Trousseau Hospital, AP-HP, Sorbonne University, 26, avenue du Docteur Arnold Netter, 75012 Paris, France., Taytard J; Pediatric Pulmonology Department, Armand Trousseau Hospital, APHP, Sorbonne University, 26, avenue du Docteur Arnold Netter, 75012 Paris, France; Sorbonne University, Inserm UMR_S1158, Experimental and clinical respiratory neurophysiology, 47-83 boulevard de l'Hôpital, 75651 Paris Cedex 13, France. Electronic address: jessica.taytard@aphp.fr.
Publikováno v:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Mar; Vol. 33 (3), pp. 263-269. Date of Electronic Publication: 2023 Jan 28.
Autor:
Boursange S; Université Paris Cité, Laboratoire de Psychologie Clinique, Psychopathologie, Psychanalyse, Boulogne-Billancourt, France.; Université Paris Cité, Ecole Doctorale ED-261, 'Cognition, Conduct and Human Behavior', Boulogne-Billancourt, France.; Institut de Myologie, Hôpital de la Pitié-Salpêtrière, APHP-Paris, France., Araneda M; Université Paris Cité, CRPMS, F-75013 Paris, France., Stalens C; French Association against Myopathies (AFM), Public Health and Medical Research Department, Evry, France., Desguerre I; Centre de Référence des Maladies Neuromusculaires, Centre Nord-Est-Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.; Pediatric Neurology Department, AP-HP Hôpital Necker Enfants Malades, Paris, France., Barnerias C; Centre de Référence des Maladies Neuromusculaires, Centre Nord-Est-Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.; Pediatric Neurology Department, AP-HP Hôpital Necker Enfants Malades, Paris, France., Nougues MC; Centre de Référence des Maladies Neuromusculaires, Centre Nord-Est-Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.; Department of Paediatric Neurology, Armand Trousseau Hospital, Assistance Publique-Hôpitaux de Paris, France., Isapof A; Centre de Référence des Maladies Neuromusculaires, Centre Nord-Est-Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.; Department of Paediatric Neurology, Armand Trousseau Hospital, Assistance Publique-Hôpitaux de Paris, France., Quijano-Roy S; Centre de Référence des Maladies Neuromusculaires, Centre Nord-Est-Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.; APHP Université Paris Saclay, Neuromuscular Unit Pediatric Neurology and ICU Department, Raymond Poincarré Hospital, Garches, France., Blu Genestine N; ECLAS association, Together against SMA type 1, Saint Denis Le Gast, France., Ouillade L; SMA Interest Group - AFM Téléthon, Evry, France., Martinez Jalilie M; Unidad de Investigación, Escuela de Medicina, Universidad Finis Terrae, Santiago, Chile., Castiglioni C; Neuropediatric Department, Las Condes Clinic, Santiago Chile, Chile., Boespflug-Tanguy O; Centre de Référence des Maladies Neuromusculaires, Centre Nord-Est-Ile de France, Réseau National des Maladies Neuromusculaires, FILNEMUS, France.; European Reference Center Network (Euro-NMD ERN), Paris, France.; I-Motion, Institute of Myology, Armand Trousseau Hospital, Assistance Publique-Hôpitaux de Paris, France.; Université Paris Cité, UMR 1141, Paris, France., Gargiulo M; Université Paris Cité, Laboratoire de Psychologie Clinique, Psychopathologie, Psychanalyse, Boulogne-Billancourt, France.; Institut de Myologie, Hôpital de la Pitié-Salpêtrière, APHP-Paris, France.
Publikováno v:
Frontiers in pediatrics [Front Pediatr] 2022 Dec 21; Vol. 10, pp. 1062390. Date of Electronic Publication: 2022 Dec 21 (Print Publication: 2022).
Autor:
Kraatari-Tiri M; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Department of Clinical Genetics and Medical Research Center, Oulu University Hospital, Oulu, Finland., Soikkonen L; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Department of Clinical Genetics and Medical Research Center, Oulu University Hospital, Oulu, Finland., Myllykoski M; Department of Biomedicine, University of Bergen, Bergen, Norway., Jamshidi Y; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK., Karimiani EG; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.; Department of Genetics, Next Generation Polyclinic, Mashhad, Iran., Komulainen-Ebrahim J; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Department of Children and Adolescents and Medical Research Center, Oulu University Hospital, Oulu, Finland., Kallankari H; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Department of Children and Adolescents and Medical Research Center, Oulu University Hospital, Oulu, Finland., Mignot C; APHP.Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Depienne C; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP.Sorbonne Université, Paris, France., Keren B; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, APHP.Sorbonne Université, Paris, France., Nougues MC; Département de Neuropédiatrie, APHP.Sorbonne Université, Hôpital Trousseau, Trousseau, France., Alsahlawi Z; Department of Pediatrics, Salmaniya Medical Complex, Kingdom of Bahrain, Bahrain., Romito A; Department of Medical Reporting and Genomics, Centogene GmbH, Rostock, Germany., Martini J; Department of Medical Reporting and Genomics, Centogene GmbH, Rostock, Germany., Toosi MB; Department of Pediatrics, School of medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Carroll CJ; Genetics Section, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK., Tripolszki K; Department of Medical Reporting and Genomics, Centogene GmbH, Rostock, Germany., Bauer P; Department of Medical Reporting and Genomics, Centogene GmbH, Rostock, Germany., Uusimaa J; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Department of Children and Adolescents and Medical Research Center, Oulu University Hospital, Oulu, Finland., Bertoli-Avella AM; Department of Medical Reporting and Genomics, Centogene GmbH, Rostock, Germany., Koivunen P; Biocenter Oulu, University of Oulu, Oulu, Finland.; Faculty of Biochemistry and Molecular Medicine, Oulu Centre for Cell-Matrix Research, University of Oulu, Oulu, Finland., Rahikkala E; PEDEGO Research Unit, University of Oulu, Oulu, Finland.; Department of Clinical Genetics and Medical Research Center, Oulu University Hospital, Oulu, Finland.
Publikováno v:
Clinical genetics [Clin Genet] 2022 Nov; Vol. 102 (5), pp. 444-450. Date of Electronic Publication: 2022 Aug 19.
Autor:
Bonardi CM; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Department of Woman's and Child's Health, University Hospital of Padua, 35100 Padua, Italy., Heyne HO; Finnish Institute for Molecular Medicine: FIMM, University of Helsinki, 00290 Helsinki, Finland.; Program for Medical and Population Genetics, Broad Institute of MIT and Harvard, 02142 Cambridge, MA, USA., Fiannacca M; Radiology Department, University of Genoa, 16126 Genoa, Italy., Fitzgerald MP; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Gardella E; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark., Gunning B; Stichting Epilepsie Instellingen Nederland, Zwolle, 8025 BV, The Netherlands., Olofsson K; Department of Pediatric Neurology, Danish Epilepsy Center, 4293 Dianalund, Denmark., Lesca G; Department of Genetics, Hospices Civils de Lyon, 69002 Bron, France.; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, 69008 Lyon, France., Verbeek N; Department of Genetics, University Medical Center, 3584 CX Utrecht, The Netherlands., Stamberger H; Neurogenetics Group, VIB-Center for Molecular Neurology, B-2610 Antwerp, Belgium.; Department of Neurology, University Hospital, 2650 Antwerp, Belgium., Striano P; IRCCS 'G. Gaslini' Institute, University of Genoa, 16147 Genoa, Italy., Zara F; IRCCS 'G. Gaslini' Institute, University of Genoa, 16147 Genoa, Italy., Mancardi MM; Child Neuropsychiatry Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Nava C; Département de Génétique, APHP, GH Pitié-Salpêtrière, 75013 Paris, France., Syrbe S; Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Buono S; Neurology Division, Hospital of National Relevance (AORN), Santobono Pausilipon, 80122 Naples, Italy., Baulac S; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, F-75013, Paris, France., Coppola A; Department of Neuroscience and Reproductive and Odontostomatological Sciences, Federico II University, 80138 Naples, Italy., Weckhuysen S; Neurogenetics Group, VIB-Center for Molecular Neurology, B-2610 Antwerp, Belgium.; Department of Neurology, University Hospital, 2650 Antwerp, Belgium., Schoonjans AS; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Ceulemans B; Department of Pediatric Neurology, Antwerp University Hospital, University of Antwerp, 2650 Edegem, Belgium., Sarret C; Service de Neuropédiatrie, CHU de Clermont-Ferrand, 6310 Clermont-Ferrand, France., Baumgartner T; Department of Epileptology, University of Bonn, D-53105 Bonn, Germany., Muhle H; Department of Neuropediatrics, University Medical Center Schleswig Holstein, 24105 Kiel, Germany., Portes VD; Neuropaediatrics Department, Femme Mère Enfant Hospital, 69500 Lyon, France., Toulouse J; Epileptology, Sleep Disorders and Functional Pediatric Neurology CHU Lyon, 69500 Bron, France., Nougues MC; Neuropaediatrics Department, Hospital Armand Trousseau, APHP, 75012 Paris, France., Rossi M; Department of Genetics, Hospices Civils de Lyon, 69002 Bron, France.; Lyon Neuroscience Research Center (CRNL), INSERM U1028, CNRS UMR5292, GENDEV Team, Claude Bernard Lyon 1 University, 69675 Bron, France., Demarquay G; Service de neurologie fonctionnelle et épileptologie, Neurological Hospital, 69677 Bron, France.; Lyon Neuroscience Research Center (CRNL), INSERM U1028, CNRS UMR5292, NeuroPain, 69677 Bron, France., Ville D; Pediatric Neurology Department, Lyon University Hospital, 69500 Bron, France., Hirsch E; Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, 67100 Strasbourg, France., Maurey H; Department of Pediatric Neurology, Hopital Bicêtre, Le Kremlin-Bicêtre, 94270 Paris, France., Willems M; Department of Clinical Genetics, Arnaud de Villeneuve Hospital, 34090 Montpellier, France., de Bellescize J; Department of Pediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, Hospices Civils de Lyon, 69677 Bron, Lyon, France., Altuzarra CD; Department of Pediatrics, St. Jacques Hospital, 25000 Besançon, France., Villeneuve N; Pediatric Neurology Department, Timone Children Hospital, 13005 Marseille, France., Bartolomei F; Epileptology Department, Timone Hospital, Public Assistance Hospitals of Marseille, Aix-Marseille University, 13005 Marseille, France., Picard F; Department of Clinical Neurosciences, University Hospitals and Faculty of Medicine, CH-1211 Geneva, Switzerland., Hornemann F; Centre of Pediatric Research, Hospital for Children and Adolescents, 04103 Leipzig, Germany., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center (Radboudumc), 6525 GA Nijmegen, The Netherlands., Kroes HY; Department of Genetics, University Medical Center, 3584 CX Utrecht, The Netherlands., Reale C; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy., Fenger CD; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Dibbens L; Epilepsy Research Group, UniSA Clinical and Health Sciences, University of South Australia, and Australian Centre for Precision Health, SA 5001 Adelaide, Australia., Bearden DR; Division of Child Neurology, Department of Neurology, University of Rochester School of Medicine, Rochester, NY14642, USA., Møller RS; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Regional Health Research, University of Southern Denmark, 5230 Odense, Denmark., Rubboli G; Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Centre, member of the ERN EpiCARE, 4293 Dianalund, Denmark.; Institute of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.
Publikováno v:
Brain : a journal of neurology [Brain] 2021 Dec 31; Vol. 144 (12), pp. 3635-3650.
Autor:
Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada., Beck DB; National Human Genome Research Institute, Bethesda, MD, 20892, USA., Metcalfe K; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Douzgou S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Sithambaram S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Cottrell T; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan., Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada., Mignot C; Assistance Publique-Hopitaux de Paris, Sorbonne Université, Departement de Génétique, Groupe Hospitalier Pitie-Salpetriere et Hopital Trousseau, Paris, 75651, France., Nougues MC; Department of Neuropediatrics, Armand Trousseau Hospital, Assistance Publique-Hopitaux de Paris, Paris, 75012, France., Keren B; Laboratoire de génétique, Hôpital Pïtié-Salpêtrière, Assistance Publique-Hopitaux de Paris, Paris, 75013, France., Moore HW; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Giltay JC; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Simon M; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Bos J; Section Clinical Genetics, Department Human Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands., van Haelst M; Section Clinical Genetics, Department Human Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Motazacker MM; Department of Human Genetics, Laboratory of Genome Diagnostics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, Netherlands., Boon EMJ; Department of Human Genetics, VU University Medical Center Amsterdam, Amsterdam UMC, van der Boechorststraat 7, 1081 BT, Amsterdam, The Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Alders M; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Luperchio TR; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA., Boukas L; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Department of Biostatistics, Johns Hopkins University, Baltimore, MD, 21205, USA., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Schaefer GB; University of Arkansas for Medical Sciences, Springdale, AR, 72762, USA., Bonasio R; Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.; Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA., Doheny KF; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada. Bekim.Sadikovic@lhsc.on.ca.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A5W9, Canada. Bekim.Sadikovic@lhsc.on.ca., Fahrner JA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. jfahrne1@jhmi.edu.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. jfahrne1@jhmi.edu.
Publikováno v:
NPJ genomic medicine [NPJ Genom Med] 2021 Nov 24; Vol. 6 (1), pp. 100. Date of Electronic Publication: 2021 Nov 24.
Autor:
Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada., Beck DB; National Human Genome Research Institute, Bethesda, MD, 20892, USA., Metcalfe K; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Douzgou S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Sithambaram S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Cottrell T; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan., Kerkhof J; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada., Mignot C; Assistance Publique-Hopitaux de Paris, Sorbonne Université, Departement de Génétique, Groupe Hospitalier Pitie-Salpetriere et Hopital Trousseau, Paris, 75651, France., Nougues MC; Department of Neuropediatrics, Armand Trousseau Hospital, Assistance Publique-Hopitaux de Paris, Paris, 75012, France., Keren B; Laboratoire de génétique, Hôpital Pïtié-Salpêtrière, Assistance Publique-Hopitaux de Paris, Paris, 75013, France., Moore HW; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Giltay JC; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Simon M; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Bos J; Section Clinical Genetics, Department Human Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands., van Haelst M; Section Clinical Genetics, Department Human Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands., Motazacker MM; Department of Human Genetics, Laboratory of Genome Diagnostics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, Netherlands., Boon EMJ; Department of Human Genetics, VU University Medical Center Amsterdam, Amsterdam UMC, van der Boechorststraat 7, 1081 BT, Amsterdam, The Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Alders M; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Luperchio TR; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA., Boukas L; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Department of Biostatistics, Johns Hopkins University, Baltimore, MD, 21205, USA., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Schaefer GB; University of Arkansas for Medical Sciences, Springdale, AR, 72762, USA., Bonasio R; Department of Cell and Developmental Biology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA.; Epigenetics Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA., Doheny KF; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.; Center for Inherited Disease Research, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, M13 9PL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Health Innovation Manchester, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK., Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON, N6A5W9, Canada. Bekim.Sadikovic@lhsc.on.ca.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A5W9, Canada. Bekim.Sadikovic@lhsc.on.ca., Fahrner JA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. jfahrne1@jhmi.edu.; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA. jfahrne1@jhmi.edu.
Publikováno v:
NPJ genomic medicine [NPJ Genom Med] 2021 Nov 08; Vol. 6 (1), pp. 92. Date of Electronic Publication: 2021 Nov 08.