Showing results (421-430 of 4,750) with videos related to

Sort By:
Pageof 475
Orphanet Journal of Rare Diseases|July 18, 2021
A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinityMarwa Ben Jdila, Cécile Mignon-Ravix, Sihem Ben Ncir, et al.
Orphanet Journal of Rare Diseases|July 22, 2021
A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registryMarie Julianne C Racoma, Maria Kristina Karizza B Calibag, Cynthia P Cordero, et al.
Orphanet Journal of Rare Diseases|July 22, 2021
Paradoxical low severity of COVID-19 in Prader-Willi syndrome: data from a French survey on 647 patientsMuriel Coupaye, Virginie Laurier, Grégoire Benvegnu, et al.
Orphanet Journal of Rare Diseases|July 20, 2021
Normative data on spontaneous stride velocity, stride length, and walking activity in a non-controlled environmentMargaux Poleur, Ana Ulinici, Aurore Daron, et al.
Orphanet Journal of Rare Diseases|December 4, 2020
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiencyDeyun Lu, Feng Han, Wenjuan Qiu, et al.
Orphanet Journal of Rare Diseases|December 14, 2020
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)Anna Skorczyk-Werner, Zuzanna Niedziela, Marcin Stopa, et al.
Orphanet Journal of Rare Diseases|December 29, 2020
French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides)Benjamin Terrier, Raphaël Darbon, Cécile-Audrey Durel, et al.
Orphanet Journal of Rare Diseases|January 7, 2021
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-upAnna Bogdańska, Patryk Lipiński, Paulina Szymańska-Rożek, et al.
Orphanet Journal of Rare Diseases|January 7, 2021
Supporting sexuality for people living with epidermolysis bullosa: clinical practice guidelinesAlex King, Humphrey Hanley, Mark Popenhagen, et al.
Orphanet Journal of Rare Diseases|January 7, 2021
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwideAtul Mehta, Uma Ramaswami, Joseph Muenzer, et al.
Pageof 475