Showing results (21-30 of 42) with videos related to

Sort By:
Pageof 5
Mitochondrion|November 6, 2007
Liver mtDNA content increases during development: a comparison of methods and the importance of age- and tissue-specific controls for the diagnosis of mtDNA depletionKarl J Morten, Neil Ashley, Frits Wijburg, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 24, 2022
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related DisorderFrancesca Magrinelli, Clarissa Rocca, Roberto Simone, et al.
JAMA Neurology|April 21, 2015
Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia GravisPedro M Rodríguez Cruz, Michal Al-Hajjar, Saif Huda, et al.
Neuromuscular Disorders : NMD|February 1, 2020
Paediatric myasthenia gravis: Prognostic factors for drug free remissionDomizia Vecchio, Sithara Ramdas, Pinki Munot, et al.
Developmental Medicine and Child Neurology|June 9, 2011
Milder phenotypes of glucose transporter type 1 deficiency syndromeGeetha Anand, Anuruddha Padeniya, Donncha Hanrahan, et al.
BMJ Open|December 22, 2018
Randomised placebo-controlled trial of combination ACE inhibitor and beta-blocker therapy to prevent cardiomyopathy in children with Duchenne muscular dystrophy? (DMD Heart Protection Study): a protocol studyJohn P Bourke, Gillian Watson, Francesco Muntoni, et al.
American Journal of Human Genetics|September 9, 2017
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44Lauren M Watson, Elizabeth Bamber, Ricardo Parolin Schnekenberg, et al.
Neuromuscular Disorders : NMD|July 9, 2013
DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 childrenAndrea Klein, Matthew C Pitt, John C McHugh, et al.
Journal of Human Genetics|December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequenciesAlistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Neurology|April 11, 2023
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic VariantsDora Batia Dyne Steel, Federica Rachele Danti, Mohamed Abunada, et al.
Pageof 5