Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Revue Medicale Suisse|January 30, 2025
[Pediatrics. Diagnosis of generalized joint hypermobility in children]Aline Bregou, Luisa Bonafé, Marianne Rohrbach, et al.
Annals of Clinical and Translational Neurology|April 28, 2022
Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patientMarkus Gschwind, Nuria Garcia Segarra, André Schaller, et al.
Molecular Genetics and Metabolism Reports|March 4, 2016
Angelman syndrome and isovaleric acidemia: What is the link?Alix Lambrecht, Samia Pichard, Hélène Maurey, et al.
Acta Ophthalmologica|May 9, 2017
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patientsGiacomo M Bacci, Maria A Donati, Elisabetta Pasquini, et al.
Orphanet Journal of Rare Diseases|November 15, 2022
Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trialApolline Imbard, Artemis Toumazi, Sophie Magréault, et al.
Molecular Genetics and Metabolism|February 14, 2018
Long-term liver disease in methylmalonic and propionic acidemiasApolline Imbard, Nuria Garcia Segarra, Marine Tardieu, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasiaMarleen Simon, Ana Belinda Campos-Xavier, Lauréane Mittaz-Crettol, et al.
American Journal of Medical Genetics. Part A|August 20, 2015
NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retinaNuria Garcia Segarra, Diana Ballhausen, Heather Crawford, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|July 14, 2012
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individualsNuria Garcia Segarra, Laureane Mittaz, Ana Belinda Campos-Xavier, et al.
Orphanet Journal of Rare Diseases|August 2, 2014
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practiceSebene Mayorandan, Uta Meyer, Gülden Gokcay, et al.
Pageof 1