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Journal of Medical Genetics|May 15, 2012
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β geneMerel S Ebberink, Janet Koster, Gepke Visser, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 21, 2022
Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variantFleur Vansenne, Johanna M Fock, Irene Stolte-Dijkstra, et al.
Annals of Neurology|April 30, 2014
Mutations in RARS cause hypomyelinationNicole I Wolf, Gajja S Salomons, Richard J Rodenburg, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|September 22, 2010
The lumbosacral angle does not reflect progressive tethered cord syndrome in children with spinal dysraphismErwin M J Cornips, Femke G E M Razenberg, Lodewijk W van Rhijn, et al.
Human Molecular Genetics|March 2, 2022
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in DrosophilaHyung-Lok Chung, Patrick Rump, Di Lu, et al.
Neurology|September 4, 2016
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndromeGina L O'Grady, Corien Verschuuren, Michaela Yuen, et al.
Human Mutation|April 2, 2019
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathiesChristoph Bachmann, Faiza Noreen, Nicol C Voermans, et al.
Life (Basel, Switzerland)|August 27, 2021
Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction QuestionnaireJudith M Lionarons, Imelda J M de Groot, Johanna M Fock, et al.
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