Showing results (151-160 of 284) with videos related to

Sort By:
Pageof 29
American Journal of Medical Genetics|April 5, 2000
Novel 7-DHCR mutation in a child with Smith-Lemli-Opitz syndromeC Patrono, C Rizzo, A Tessa, et al.
Neuromuscular Disorders : NMD|May 17, 2006
POMT2 mutation in a patient with 'MEB-like' phenotypeE Mercuri, A D'Amico, A Tessa, et al.
Neurology|July 1, 1991
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studiesS Servidei, M Zeviani, G Manfredi, et al.
Kidney International|August 11, 2006
Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the associationG Caridi, M Dagnino, A Rossi, et al.
Neurogenetics|August 27, 2013
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3Ginevra Zanni, Chiara Scotton, Chiara Passarelli, et al.
Mbio|September 13, 2018
Structural Basis of Pan-Ebolavirus Neutralization by a Human Antibody against a Conserved, yet Cryptic EpitopeBrandyn R West, Crystal L Moyer, Liam B King, et al.
Molecular and Cellular Probes|June 17, 1999
Two novel missense mutations causing adrenoleukodystrophy in Italian patientsC Perusi, M Gomez-Lira, M Mottes, et al.
Neuromuscular Disorders : NMD|December 4, 2001
Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantationF M Santorelli, M G Gagliardi, C Dionisi-Vici, et al.
Neurology|March 17, 1999
Neurophysiologic follow-up of long-term dietary treatment in adult-onset adrenoleukodystrophyD Restuccia, V Di Lazzaro, M Valeriani, et al.
Biochemical and Biophysical Research Communications|May 18, 1999
A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathyG Pepe, B Giusti, E Bertini, et al.
Pageof 29