Showing results (101-110 of 281) with videos related to

Sort By:
Pageof 29
Annals of Neurology|September 27, 2002
Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotypeFriedrich Asmus, Alexander Zimprich, Sophie Tezenas Du Montcel, et al.
Deutsches Arzteblatt International|May 7, 2019
Exome Sequencing in ChildrenElisa A Mahler, Jessika Johannsen, Konstantinos Tsiakas, et al.
American Journal of Human Genetics|November 4, 2008
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosaRob W J Collin, Karin W Littink, B Jeroen Klevering, et al.
European Journal of Endocrinology|December 25, 2015
Landscape of somatic mutations in sporadic GH-secreting pituitary adenomasCristina L Ronchi, Erika Peverelli, Sabine Herterich, et al.
Molecular Vision|August 2, 2017
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous familiesAsmat Ullah, Muhammad Umair, Maryam Yousaf, et al.
Kidney International|May 9, 2018
The elevation of circulating fibroblast growth factor 23 without kidney disease does not increase cardiovascular disease riskEva-Maria Pastor-Arroyo, Nicole Gehring, Christiane Krudewig, et al.
Molecular Vision|May 11, 2010
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsiaMaleeha Azam, Rob W J Collin, Syed Tahir Abbas Shah, et al.
Brain : a Journal of Neurology|December 3, 2015
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegenerationEliska Holzerova, Katharina Danhauser, Tobias B Haack, et al.
The Journal of Clinical Endocrinology and Metabolism|March 13, 2015
Frequency and clinical correlates of somatic Ying Yang 1 mutations in sporadic insulinomasUrs D Lichtenauer, Guido Di Dalmazi, Emily P Slater, et al.
Human Genetics|November 22, 2018
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathyKatharina Vill, Wolfgang Müller-Felber, Dieter Gläser, et al.
Pageof 29