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Annals of Neurology|July 13, 2019
SSBP1 mutations in dominant optic atrophy with variable retinal degenerationNeringa Jurkute, Costin Leu, Hans-Martin Pogoda, et al.
Circulation|December 7, 2005
NAD(P)H oxidase and multidrug resistance protein genetic polymorphisms are associated with doxorubicin-induced cardiotoxicityLeszek Wojnowski, Bettina Kulle, Markus Schirmer, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutationErsan Kalay, Abdullah Uzumcu, Elmar Krieger, et al.
Circulation|July 7, 2020
Intronic CRISPR Repair in a Preclinical Model of Noonan Syndrome-Associated CardiomyopathyUlrich Hanses, Mandy Kleinsorge, Lennart Roos, et al.
Epilepsia|July 16, 2015
Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsyDennis Lal, Katharina Pernhorst, Karl Martin Klein, et al.
American Journal of Respiratory and Critical Care Medicine|June 30, 2015
A molecular biomarker to diagnose community-acquired pneumonia on intensive care unit admissionBrendon P Scicluna, Peter M C Klein Klouwenberg, Lonneke A van Vught, et al.
Human Mutation|October 25, 2017
Gain-of-function HCN2 variants in genetic epilepsyMelody Li, Snezana Maljevic, A Marie Phillips, et al.
Human Molecular Genetics|May 29, 2008
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathyChristian Geier, Katja Gehmlich, Elisabeth Ehler, et al.
Free Radical Biology & Medicine|February 25, 2017
Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsyAlexei P Kudin, Gregor Baron, Gábor Zsurka, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis SimplexMaria-Teresa Romano, Aylar Tafazzoli, Maximilian Mattern, et al.
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