Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Buissonnière R"'
Autor:
Morsy H; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt. Electronic address: heba.morsy@ucl.ac.uk., Benkirane M; Department of Molecular Genetic, University Institute for Clinical Research, Montpellier University Hospital, PhyMedExp, CNRS UMR 9214, INSERM U1046, Montpellier, France., Cali E; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Rocca C; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Zhelcheska K; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Cipriani V; William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Galanaki E; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Maroofian R; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Efthymiou S; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., O'Driscoll M; West Midlands Regional Clinical Genetics Service, Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom., Suri M; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Clayton-Smith J; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Wright T; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Redman M; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom., Bassetti JA; Department of Pediatrics, Weill Cornell Medicine, New York, NY., Nizon M; Thorax Institute, Nantes University, CNRS, INSERM, Nantes, France., Cogne B; Thorax Institute, Nantes University, CNRS, INSERM, Nantes, France; Department of Medical Genetics, Nantes University Hospital, Nantes, France., Jamra RA; MVZ for Diagnostic and Therapy, Leipziger Land, Leipzig, Germany; Institute of Human Genetics, University of Leipzig Medical Center, University of Leipzig, Leipzig, Germany., Bartolomaeus T; MVZ for Diagnostic and Therapy, Leipziger Land, Leipzig, Germany; Institute of Human Genetics, University of Leipzig Medical Center, University of Leipzig, Leipzig, Germany., Heruth M; MVZ for Diagnostic and Therapy, Leipziger Land, Leipzig, Germany., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, University of Leipzig, Leipzig, Germany., Gburek-Augustat J; Division of Neuropediatrics, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Düsseldorf, Germany., Gattermann F; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Düsseldorf, Germany., Mcentagart M; Medical Genetics, St George's University Hospitals NHS Foundation Trust, London, United Kingdom., Goldenberg A; Department of Medical Genetics, Rouen University Hospital, Rouen, France., Guyant-Marechal L; Department of Pediatric Neurology, Marseille University Hospital, Marseille, France., Garcia-Moreno H; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom., Giunti P; Department of Neurogenetics, National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, United Kingdom; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom., Chabrol B; Reference Center for Inherited Metabolic Diseases, Marseille University Hospital, Marseille, France., Bacrot S; Department of Molecular Genetics, Versailles Hospital, Versailles, France., Buissonnière R; Department of Pediatrics, Versailles Hospital, Versailles, France., Magry V; Department of Molecular Genetics, Amiens-Picardie University Hospital, Amiens, France., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Melegh B; Department of Medical Genetics, Clinical Centre, School of Medicine, University of Pécs, Pécs, Hungary., Szabó A; Department of Medical Genetics, Clinical Centre, School of Medicine, University of Pécs, Pécs, Hungary., Sümegi K; Department of Biochemistry and Medical Chemistry, Medical School, University of Pécs, Pécs, Hungary., Cossée M; Department of Molecular Genetic, University Institute for Clinical Research, Montpellier University Hospital, PhyMedExp, CNRS UMR 9214, INSERM U1046, Montpellier, France., Ziff M; Clinical Genetics Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Butterfield R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, University of Utah Health, Salt Lake City, UT., Hunt D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kigngdom., Bird-Lieberman G; Southampton Children's Hospital, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom., Hanna M; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Koenig M; Department of Molecular Genetic, University Institute for Clinical Research, Montpellier University Hospital, PhyMedExp, CNRS UMR 9214, INSERM U1046, Montpellier, France., Stankewich M; Department of Pathology, Yale School of Medicine, New Haven, CT., Vandrovcova J; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom., Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, University College London, Queen Square, London, United Kingdom. Electronic address: h.houlden@ucl.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 76-89. Date of Electronic Publication: 2022 Nov 04.
Autor:
Schiff M; Reference Center for Inherited Metabolic Diseases, AP-HP, Robert Debré Hospital, University Paris Diderot-Sorbonne Paris Cité, Paris, France.; INSERM U1141, Paris, France., Roda C; Reference Center for Inherited Metabolic Disease, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, University Paris Descartes-Sorbonne Paris Cité, Paris, France., Monin ML; Department of Genetics, Molecular and Cellular Neurogenetics Unit, Reference Center for Intellectual of Rare Causes, AP-HP, GH Pitié-Salpêtrière, Paris, France., Arion A; Department of Paediatrics, Paediatric Care Unit, Caen Hospital, Caen, France., Barth M; Hematology Unit, AP-HP, Necker-Enfants Malades Hospital, Paris, France.; UMR INSERM 1176, Le Kremlin-Bicêtre, Paris, France., Bednarek N; Neonatal Intensive Care Unit, Institute of Alix de Champagne, Reims University Hospital, Reims, France., Bidet M; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, Paris, France., Bloch C; Paediatric Unit, Fondation Lenval, Nice, France., Boddaert N; Department of Paediatric Radiology, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, Paris, France.; Sorbonne Paris Cité, INSERM U1000, Paris, France.; UMR 1163, Paris, France., Borgel D; Hematology Unit, AP-HP, Necker-Enfants Malades Hospital, Paris, France.; UMR INSERM 1176, Le Kremlin-Bicêtre, Paris, France., Brassier A; Reference Center for Inherited Metabolic Disease, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, University Paris Descartes-Sorbonne Paris Cité, Paris, France., Brice A; Sorbonne Universités, UPMC Univ Paris 06, UMR S1127, Paris, France.; INSERM U1127, Paris, France.; CNRS UMR7225, Paris, France.; Brain and Spine Institute (ICM), Paris, France., Bruneel A; Department of Biochemistry, AP-HP, Bichat Hospital, Rouen, France., Buissonnière R; Pediatric Unit, André Mignot Hospital, Versailles, France., Chabrol B; Reference Center for Inherited Metabolic Diseases, Timone Enfants University Hospital, Marseille, France., Chevalier MC; Department of Paediatrics, Le Mans Hospital, Le Mans, France., Cormier-Daire V; Departement of Genetics, Centre of Reference for Skeletal Dysplas, AP-HP, Necker-Enfants Malades Hospital, Paris, France.; INSERM UMR1163, IMAGINE Institute affiliate, Paris, France.; University Paris Descartes-Sorbonne Paris Cité, Paris, France., De Barace C; Paediatric Unit, Saint Brieuc Hospital, Saint Brieuc, France., De Maistre E; Haematological Laboratory, Dijon Hospita, Dijon, France., De Saint-Martin A; Paediatric Neurology, Department of Pediatrics, University Hospital, Strasbourg, France., Dorison N; Pediatric Neurology Department and Neurofibromatosis Reference Center, AP-HP, Armand Trousseau Hospital, Paris, France., Drouin-Garraud V; Medical Genetics Unit, Rouen University Hospital, Rouen, France., Dupré T, Echenne B; Paediatric Neurology Unit, University of Montpellier I, Montpellier, France., Edery P; Department of Genetic, Lyon University Hospitals, Neuroscience Research Centre, CNRS UMR5292, INSERM U1028, Lyon, France., Feillet F; Faculty of Medicine of Nancy, INSERM U954, NGERE-Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Vandoeuvre-lès-Nancy, France., Fontan I; Department of Dermatology and Paediatric Dermatology, Bordeaux University Hospitals, Bordeaux, France., Francannet C; Medical Genetics Unit, Clermont-Ferrand Hospital, Clermont-Ferrand, France., Labarthe F; Department of Paediatric, Tours Regional University Hospitals, Tours, France., Gitiaux C; Department of Child Neurology, Reference Centre for Neuromuscular Diseases, AP-HP, Necker-Enfants Malades Hospital, Paris, France., Héron D; GRC Intellectual Disability and Autism, UPMC Univ Paris 6, Paris, France., Hully M; Reference Center for Inherited Metabolic Disease, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, University Paris Descartes-Sorbonne Paris Cité, Paris, France., Lamoureux S; Department of Paediatric, Henri-Duffaut Hospital, Avignon, France., Martin-Coignard D; Department of Genetic, Le Mans Hospital, Le Mans, France., Mignot C; Department of Genetics, Molecular and Cellular Neurogenetics Unit, Reference Center for Intellectual of Rare Causes, AP-HP, GH Pitié-Salpêtrière, Paris, France., Morin G; Department of Genetic, Amiens University Hospital, Amiens, France., Pascreau T; Hematology Unit, AP-HP, Necker-Enfants Malades Hospital, Paris, France.; UMR INSERM 1176, Le Kremlin-Bicêtre, Paris, France., Pincemaille O; Department of Paediatrics, Grasse Hospital, France., Polak M; Department of Paediatric Endocrinology, Gynaecology, and Diabetology, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, Paris, France., Roubertie A, Thauvin-Robinet C; Departement of Genetic, Children's Hospital, Dijon, France., Toutain A; Division of Genetics, Bretonneau Hospital, Tours, France., Viot G; Department of Gynecology-Obstetrics, Faculty of Medicine, AP-HP, Cochin Hospital, Paris Descartes University‒Sorbonne Paris Cité, Paris, France., Vuillaumier-Barrot S; Department of Biochemistry, AP-HP, Bichat Hospital, Rouen, France., Seta N; Department of Biochemistry, AP-HP, Bichat Hospital, Rouen, France., De Lonlay P; Reference Center for Inherited Metabolic Disease, AP-HP, Necker-Enfants Malades Hospital, IMAGINE Institute affiliate, University Paris Descartes-Sorbonne Paris Cité, Paris, France.
Publikováno v:
Journal of medical genetics [J Med Genet] 2017 Dec; Vol. 54 (12), pp. 843-851. Date of Electronic Publication: 2017 Sep 27.
Autor:
Pajusalu, Sander, Vals, Mari-Anne, Serrano, Mercedes, Witters, Peter, Cechova, Anna, Honzik, Tomáš, Edmondson, Andrew C., Ficicioglu, Can, Barone, Rita, De Lonlay, Pascale, Bérat, Claire-Marine, Vuillaumier-Barrot, Sandrine, Lam, Christina, Patterson, Marc C., Janssen, Mirian C. H., Martins, Esmeralda, Quelhas, Dulce, Sykut-Cegielska, Jolanta, Mousa, Jehan, Urreizti, Roser
Publikováno v:
Human Mutation; 10/3/2024, Vol. 2024, p1-21, 21p
Autor:
Desguerre I; Service de Neuropédiatrie, Hôpital Saint-Vincent-de-Paul, Paris., Pedespan JM, Buissonnière R, Couvreur J, Ponsot G
Publikováno v:
Archives francaises de pediatrie [Arch Fr Pediatr] 1993 Apr; Vol. 50 (4), pp. 339-42.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
De Michele, Giovanna, Maione, Luigi, Cocozza, Sirio, Tranfa, Mario, Pane, Chiara, Galatolo, Daniele, De Rosa, Anna, De Michele, Giuseppe, Saccà, Francesco, Filla, Alessandro
Publikováno v:
Cerebellum; Apr2024, Vol. 23 Issue 2, p688-701, 14p
Autor:
Scaravilli, Alessandra, Tranfa, Mario, Pontillo, Giuseppe, Brais, Bernard, De Michele, Giovanna, La Piana, Roberta, Saccà, Francesco, Santorelli, Filippo Maria, Synofzik, Matthis, Brunetti, Arturo, Cocozza, Sirio
Publikováno v:
Cerebellum; Apr2024, Vol. 23 Issue 2, p757-774, 18p
Autor:
Dorval, Guillaume1,2, Jeanpierre, Cécile2, Morinière, Vincent1, Tournant, Carole1, Bessières, Bettina3, Attié-Bittach, Tania3,4, Amiel, Jeanne4,5, Spaggari, Emmanuel6, Ville, Yves6,7, Merieau, Elodie8, Gubler, Marie-Claire2, Saunier, Sophie2, Heidet, Laurence2,9 laurence.heidet@aphp.fr
Publikováno v:
Pediatric Nephrology. Aug2021, Vol. 36 Issue 8, p2361-2369. 9p. 1 Color Photograph, 1 Diagram, 1 Chart.
Autor:
Bogdańska, Anna1 (AUTHOR), Lipiński, Patryk2 (AUTHOR), Szymańska-Rożek, Paulina3 (AUTHOR), Jezela-Stanek, Aleksandra4 (AUTHOR), Rokicki, Dariusz2 (AUTHOR), Socha, Piotr5 (AUTHOR), Tylki-Szymańska, Anna2 (AUTHOR) a.tylki@ipczd.pl
Publikováno v:
Orphanet Journal of Rare Diseases. 1/6/2021, Vol. 16 Issue 1, p1-11. 11p.
Autor:
Buissonnière R, Robain O
Publikováno v:
Annales de pediatrie [Ann Pediatr (Paris)] 1989 Sep; Vol. 36 (7), pp. 482.