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Showing results (871-880 of 898) with videos related to

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Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
Neurology|August 22, 2024
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic DiseasesDaphne H Schoenmakers, Sibren van den Berg, Lonneke Timmers, et al.
Molecular Genetics and Metabolism|September 3, 2017
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophiesLaura A Adang, Omar Sherbini, Laura Ball, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 7, 2025
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophyDaphne H Schoenmakers, Marije A B C Asbreuk, Tamara Martin, et al.
American Journal of Human Genetics|May 31, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyMarianna Madeo, Michelle Stewart, Yuyang Sun, et al.
Nature Communications|April 3, 2023
Cellular differentiation into hyphae and spores in halophilic archaeaShu-Kun Tang, Xiao-Yang Zhi, Yao Zhang, et al.
Neurology|November 13, 2025
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White MatterRomy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky, et al.
American Journal of Human Genetics|March 25, 2023
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesisF Graeme Frost, Marie Morimoto, Prashant Sharma, et al.
Molecular Genetics and Metabolism|February 14, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophyFrancesco Gavazzi, Brittany Charsar, Eline Hamilton, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
Pageof 90

Showing results (871-880 of 898) with videos related to

Sort By:
Pageof 90
Neurology. Genetics|February 12, 2020
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic <i>POLR1C</i> pathogenic variantsLaurence Gauquelin, Ferdy K Cayami, László Sztriha, et al.
Neurology|August 22, 2024
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic DiseasesDaphne H Schoenmakers, Sibren van den Berg, Lonneke Timmers, et al.
Molecular Genetics and Metabolism|September 3, 2017
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophiesLaura A Adang, Omar Sherbini, Laura Ball, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 7, 2025
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophyDaphne H Schoenmakers, Marije A B C Asbreuk, Tamara Martin, et al.
American Journal of Human Genetics|May 31, 2016
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic EncephalopathyMarianna Madeo, Michelle Stewart, Yuyang Sun, et al.
Nature Communications|April 3, 2023
Cellular differentiation into hyphae and spores in halophilic archaeaShu-Kun Tang, Xiao-Yang Zhi, Yao Zhang, et al.
Neurology|November 13, 2025
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White MatterRomy J van Voorst, Daphne H Schoenmakers, Joshua L Bonkowsky, et al.
American Journal of Human Genetics|March 25, 2023
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesisF Graeme Frost, Marie Morimoto, Prashant Sharma, et al.
Molecular Genetics and Metabolism|February 14, 2025
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophyFrancesco Gavazzi, Brittany Charsar, Eline Hamilton, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
Pageof 90