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Journal of Medical Genetics|October 26, 2010
Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type IbStéphanie Maupetit-Méhouas, Virginie Mariot, Christelle Reynès, et al.The Lancet. Diabetes & Endocrinology|January 14, 2017
Key European guidelines for the diagnosis and management of patients with phenylketonuriaFrancjan J van Spronsen, Annemiek Mj van Wegberg, Kirsten Ahring, et al.Pediatrics|May 22, 2013
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective studyStefanie Keil, Karen Anjema, Francjan J van Spronsen, et al.The Journal of Pediatrics|October 20, 2022
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis ApproachAbdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.Journal of Inherited Metabolic Disease|June 3, 2026
First Revision of the Guidelines for the Diagnosis and Management of Remethylation DisordersGiorgia Olivieri, Andrea Bordugo, Birute Burnyte, et al.The Journal of Pediatrics|March 9, 2020
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted DietAline Cano, Noemie Resseguier, Abdoulaye Ouattara, et al.The Journal of Pediatrics|November 17, 2021
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted DietAbdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.Molecular Genetics and Metabolism|January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated diseaseNicole Hammann, Dominic Lenz, Ivo Baric, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndromeThomas Besnard, Natacha Sloboda, Alice Goldenberg, et al.American Journal of Human Genetics|February 5, 2026
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 traffickingPilar Chacon-Millan, Antonella Delicato, Arif Mahmood, et al.Pageof 2