Zobrazeno 1 - 10
of 101 408
pro vyhledávání: '"GENETIC ASSOCIATION"'
Autor:
Azizinejad F; Cellular and Molecular Research Center, Medical Basic Sciences Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Aminzadeh M; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; Department of Pediatrics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Tahmasebi-Birgani M; Cellular and Molecular Research Center, Medical Basic Sciences Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Heidari S; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; Department of Pediatrics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran., Ghandil P; Cellular and Molecular Research Center, Medical Basic Sciences Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Electronic address: pghandil@yahoo.com.
Publikováno v:
Gene [Gene] 2025 Jan 30; Vol. 935, pp. 149020. Date of Electronic Publication: 2024 Oct 24.
Autor:
Bhattarai D; Advanced Center for Immunology and Rheumatology, Kathmandu, 44600, Nepal. dharmagat@yahoo.co.uk.; Pediatric Clinical Immunology and Rheumatology, Division of Immunology & Pediatric Rheumatology, Advanced Centre for Immunology and Rheumatology, Kathmandu, Nepal. dharmagat@yahoo.co.uk., Banday AZ; Department of Pediatrics, Government Medical College (GMC) Srinagar, Srinagar, Kashmir, India., Sharda S; Department of Medical Genetics, Neuberg Center for Genomic Medicine, Ahmedabad, India., Patra PK; Department of Pediatrics, All India Institute of Medical Sciences Patna, Patna, Bihar, India., Walter JE; Division of Allergy & Immunology, University of South Florida at Johns' Hopkins All Children's Hospital, St. Petersburg, 33701, USA., Sullivan KE; Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, 19104, USA.
Publikováno v:
Journal of clinical immunology [J Clin Immunol] 2025 Jan 03; Vol. 45 (1), pp. 63. Date of Electronic Publication: 2025 Jan 03.
Autor:
Barbat du Closel L; Reference Center for Neuromuscular Disorders and ALS, APHM, CHU La Timone, Filnemus, ERN Neuro-NMD, Marseille, France., Bonello-Palot N; Marseille Medical Genetics, Aix-Marseille University-Inserm UMR 1251, Marseille, France., Delmont E; Reference Center for Neuromuscular Disorders and ALS, APHM, CHU La Timone, Filnemus, ERN Neuro-NMD, Marseille, France., Péréon Y; CHU Nantes, Laboratoire d'Explorations Fonctionnelles, Reference Center for NMD AOC, Filnemus, Euro-NMD, Nantes, France., Echaniz-Laguna A; Department of Neurology, APHP, CHU de Bicêtre, Le Kremlin-Bicêtre, France.; French National Reference Center for Rare Neuropathies, Le Kremlin-Bicêtre, France.; Inserm U1195 and Paris-Saclay University, Le Kremlin-Bicêtre, France., Camdessanché JP; Department of Neurology and Reference Centre for Neuromuscular Diseases, Saint Etienne, France., Pakleza AN; Centre de Référence des maladies Neuromusculaires Nord/Est/Ile-de-France, Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Chanson JB; Centre de Référence des maladies Neuromusculaires Nord/Est/Ile-de-France, Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Frachet S; Service et Laboratoire de Neurologie, Centre de Référence Neuropathies Périphériques rares, NNerf, UR NeurIT, CHU Limoges, Limoges, France., Magy L; Service et Laboratoire de Neurologie, Centre de Référence Neuropathies Périphériques rares, NNerf, UR NeurIT, CHU Limoges, Limoges, France., Cassereau J; Reference Center for Neuromuscular Disorders AOC and National Reference Center for Neurogenetic Diseases, Angers University Hospital, Angers, France., Cintas P; Centre de référence de pathologie neuromusculaire de Toulouse. Hôpital Purpan, Toulouse, France., Choumert A; Service des Maladies Neurologiques Rares, CHU de la Réunion-GH Sud Réunion-Saint-Pierre, Marseille, France., Devic P; Department of Neurology, Hospices Civils de Lyon, Lyon Sud Hospital, Pierre-Bénite, France., Louis SL; APHP, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris, France., Tard C; U1172, centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, CHU de Lille, Lille, France., Solé G; Centre de référence des maladies neuromusculaires AOC CHU de Bordeaux Hôpital Pellegrin, Bordeaux, France., Salort-Campana E; Reference Center for Neuromuscular Disorders and ALS, APHM, CHU La Timone, Filnemus, ERN Neuro-NMD, Marseille, France.; Marseille Medical Genetics, Aix-Marseille University-Inserm UMR 1251, Marseille, France., Bouhour F; Service d'Electroneuromyographie et Pathologies Neuromusculaires, Hospices Civils de Lyon, Lyon, France., Latour P; PGNM, Institut NeuroMyoGène, Université Lyon1-CNRS UMR5261-INSERM, Lyon, France.; Unité fonctionnelle de neurogénétique moléculaire, CHU de Lyon-HCL groupement Est, Bron, France., Stojkovic T; APHP, Centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, Paris, France., Attarian S; Reference Center for Neuromuscular Disorders and ALS, APHM, CHU La Timone, Filnemus, ERN Neuro-NMD, Marseille, France.; Marseille Medical Genetics, Aix-Marseille University-Inserm UMR 1251, Marseille, France.
Publikováno v:
European journal of neurology [Eur J Neurol] 2025 Jan; Vol. 32 (1), pp. e16523. Date of Electronic Publication: 2024 Nov 21.
Autor:
Bürger O; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Humbel A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Ivanovski I; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Baumer A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Pediatric University Hospital Zurich, Zurich, Switzerland.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63842. Date of Electronic Publication: 2024 Aug 19.
Autor:
Gana S; Neurogenetics Research Center, Fondazione Istituto Neurologico Nazionale C Mondino Istituto di Ricovero e Cura a Carattere Scientifico, Pavia, Lombardia, Italy., D'Abrusco F; Neurogenetics Research Center, Fondazione Istituto Neurologico Nazionale C Mondino Istituto di Ricovero e Cura a Carattere Scientifico, Pavia, Lombardia, Italy., Nicotra R; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Lombardia, Italy.; Developmental Neuro-Ophthalmology Unit, Fondazione Istituto Neurologico Nazionale C Mondino Istituto di Ricovero e Cura a Carattere Scientifico, Pavia, Lombardia, Italy., Ghiberti C; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Lombardia, Italy., Catalano G; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Lombardia, Italy.; Developmental Neuro-Ophthalmology Unit, Fondazione Istituto Neurologico Nazionale C Mondino Istituto di Ricovero e Cura a Carattere Scientifico, Pavia, Lombardia, Italy., Rognone E; Department of Neuroradiology, Fondazione Istituto Neurologico Nazionale C Mondino Istituto di Ricovero e Cura a Carattere Scientifico, Pavia, Lombardia, Italy., Pichiecchio A; Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Lombardia, Italy.; Department of Neuroradiology, Fondazione Istituto Neurologico Nazionale C Mondino Istituto di Ricovero e Cura a Carattere Scientifico, Pavia, Lombardia, Italy., Signorini S; Developmental Neuro-Ophthalmology Unit, Fondazione Istituto Neurologico Nazionale C Mondino Istituto di Ricovero e Cura a Carattere Scientifico, Pavia, Lombardia, Italy., Valente EM; Neurogenetics Research Center, Fondazione Istituto Neurologico Nazionale C Mondino Istituto di Ricovero e Cura a Carattere Scientifico, Pavia, Lombardia, Italy enzamaria.valente@unipv.it.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 Dec 31; Vol. 62 (1), pp. 3-5. Date of Electronic Publication: 2024 Dec 31.
Autor:
Wang MY; Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China.; NHC Key Laboratory of Myopia and Related Eye Diseases; Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shangai, China., Gao FJ; Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China.; NHC Key Laboratory of Myopia and Related Eye Diseases; Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shangai, China., Ju YQ; Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China.; NHC Key Laboratory of Myopia and Related Eye Diseases; Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shangai, China., Guo LY; Department of Radiology, Eye & ENT Hospital, Fudan University, Shanghai, China., Duan C; Yunnan Eye Institute & Key Laboratory of Yunnan Province, Yunnan Eye Disease Clinical Medical Center, Affiliated Hospital of Yunnan University, Yunnan, China., Chang Q; Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China.; NHC Key Laboratory of Myopia and Related Eye Diseases; Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shangai, China., Zhang T; Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China.; NHC Key Laboratory of Myopia and Related Eye Diseases; Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shangai, China., Xu GZ; Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China.; NHC Key Laboratory of Myopia and Related Eye Diseases; Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shangai, China., Du H; School of Sensing Science and Engineering, School of Electronic Information and Electrical Engineering, Shanghai Jiao Tong University, Shanghai, China fd2017huangxin@163.com zongyuan326@163.com sdduhui@hotmail.com., Zong Y; Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China fd2017huangxin@163.com zongyuan326@163.com sdduhui@hotmail.com.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China.; NHC Key Laboratory of Myopia and Related Eye Diseases; Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shangai, China., Huang X; Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China fd2017huangxin@163.com zongyuan326@163.com sdduhui@hotmail.com.; Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China.; NHC Key Laboratory of Myopia and Related Eye Diseases; Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shangai, China.
Publikováno v:
Journal of medical genetics [J Med Genet] 2024 Dec 31; Vol. 62 (1), pp. 6-14. Date of Electronic Publication: 2024 Dec 31.
Autor:
Akalın A; Department of Pediatric Genetics, Diyarbakir Children's Hospital, Diyarbakır, Turkey. akcahanbalci@gmail.com.; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey. akcahanbalci@gmail.com., Özalkak Ş; Department of Pediatric Endocrinology, Diyarbakir Children's Hospital, Diyarbakır, Turkey., Yıldırım R; Department of Pediatric Endocrinology, Diyarbakir Children's Hospital, Diyarbakır, Turkey., Karakaya AA; Department of Pediatric Endocrinology, Diyarbakir Children's Hospital, Diyarbakır, Turkey., Kolbaşı B; Department of Pediatric Endocrinology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey., Durmuşalioğlu EA; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey., Kökali F; Department of Pediatric Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey., Ürel-Demir G; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Öz V; Department of Pediatric Neurology, Diyarbakir Children's Hospital, Diyarbakır, Turkey., Ünal E; Department of Pediatric Endocrinology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey., Atik T; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Ege University, Izmir, Turkey., Şimşek-Kiper PÖ; Department of Pediatric Genetics, Faculty of Medicine, Hacettepe University, Ankara, Turkey., Elcioglu NH; Department of Pediatric Genetics, Faculty of Medicine, Marmara University, Istanbul, Turkey.; Department of Pediatric Genetics, Eastern Mediterranean University Medical School, Famagusta, Turkey.
Publikováno v:
European journal of pediatrics [Eur J Pediatr] 2024 Dec 07; Vol. 184 (1), pp. 68. Date of Electronic Publication: 2024 Dec 07.
Autor:
Özen S; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, İzmir, Turkey, Gökşen D; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, İzmir, Turkey, Evin F; Bakırçay University, Çiğli Training and Research Hospital, Clinic of Pediatric Endocrinology, İzmir, Turkey, Işık E; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey, Onay H; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Akgün B; Ege University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Ata A; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, İzmir, Turkey, Atik T; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey, Düzcan F; Tınaztepe University Faculty of Medicine, Department of Medical Genetics, İzmir, Turkey, Özkınay F; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey, Darcan Ş; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, İzmir, Turkey, Çoğulu Ö; Ege University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Genetics, İzmir, Turkey
Publikováno v:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Dec 04; Vol. 16 (4), pp. 431-442. Date of Electronic Publication: 2024 Jun 03.
Autor:
Perrin A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, INSERM, CNRS, Université de Montpellier, 34093 Montpellier, France., Garcia-Uzquiano R; AP-HP, GHU Université Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, 92380 Garches, France., Stojkovic T; AP-HP, Centre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Sorbonne Université, Hôpital Pitié-Salpêtrière, 75013 Paris, France., Tard C; Département de Neurologie et des Troubles du Mouvement, U1172, Centre Hospitalo Universitaire (CHU) de Lille, CT, Centre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, 59000 Lille, France., Metay C; AP-HP, UF Molecular Cardiogenetics and Myogenetics, Sorbonne Université and Sorbonne Université UPMC Paris 06, Inserm UMRS974, Research Center in Myology, Pitié-Salpêtrière Hospital, 75013 Paris, France., Bergougnoux A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, INSERM, CNRS, Université de Montpellier, 34093 Montpellier, France., Van Goethem C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France., Thèze C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France., Larrieux M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France., Faure-Gautron H; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, INSERM, CNRS, Université de Montpellier, 34093 Montpellier, France., Laporte J; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, CNRS UMR 7104, Université de Strasbourg, 67400 Illkirch, France., Lefebvre G; Service d'Imagerie Musculo-Squelettique, CCIAL, CHU de Lille, Rue Emile Laine, 59037 Lille, France., Krahn M; INSERM, Marseille Medical Genetics, U1251, Aix-Marseille Université, 13385 Marseille, France.; Département de Génétique Médicale, Hôpital Timone Enfants, APHM, 13385 Marseille, France., Juntas-Morales R; Neurology Department, Vall d'Hebron University Hospital, 08035 Barcelona, Spain., Titin's Network Collaborators, Koenig M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, INSERM, CNRS, Université de Montpellier, 34093 Montpellier, France., Quijano-Roy S; AP-HP, GHU Université Paris-Saclay, Neuromuscular Center, Child Neurology and ICU Department, Raymond Poincare Hospital, 92380 Garches, France.; U1179 INSERM-UVSQ, Université de Versailles, 78180 Montigny, France., Carlier RY; U1179 INSERM-UVSQ, Université de Versailles, 78180 Montigny, France.; AP-HP, GHU Université Paris-Saclay, DMU Smart Imaging, Radiology Department, Raymond Poincaré Teaching Hospital, 92380 Garches, France., Cossée M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, INSERM, CNRS, Université de Montpellier, 34093 Montpellier, France.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Dec 03; Vol. 25 (23). Date of Electronic Publication: 2024 Dec 03.
Autor:
Cunha Ganimi MCD; Sarah Network of Rehabilitation Hospitals, Rio de Janeiro, Brazil. carolganimi@gmail.com., Couto CM; Sarah Network of Rehabilitation Hospitals, Rio de Janeiro, Brazil., La Rocque Ferreira A; Sarah Network of Rehabilitation Hospitals, Rio de Janeiro, Brazil., Antão Paiva CL; Federal University of the State of Rio de Janeiro, Rio de Janeiro, Brazil.
Publikováno v:
Cerebellum (London, England) [Cerebellum] 2024 Dec; Vol. 23 (6), pp. 2414-2425. Date of Electronic Publication: 2024 Sep 25.