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European Journal of Human Genetics : EJHG|May 13, 2010
A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42)Nina A Schlipf, Christian Beetz, Rebecca Schüle, et al.
European Journal of Medical Genetics|June 11, 2022
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular diseaseAnett Marais, Aida M Bertoli-Avella, Christian Beetz, et al.
Human Genetics|September 1, 2023
A founder DBR1 variant causes a lethal form of congenital ichthyosisHanan E Shamseldin, Mukunth Sadagopan, Javier Martini, et al.
Journal for Immunotherapy of Cancer|December 2, 2022
T cells of colorectal cancer patients' stimulated by neoantigenic and cryptic peptides better recognize autologous tumor cellsSandra Schwarz, Johanna Schmitz, Markus W Löffler, et al.
Parkinsonism & Related Disorders|August 30, 2020
PINK1 p.Leu347Pro mutations in Malays: Prevalence and illustrative casesAi Huey Tan, Katja Lohmann, Yi Wen Tay, et al.
Economics and Human Biology|March 5, 2011
Relative weight-related costs of healthcare use by children--results from the two German birth cohorts, GINI-plus and LISA-plusAriane Breitfelder, Christina M Wenig, Silke B Wolfenstetter, et al.
Brain : a Journal of Neurology|January 18, 2021
Bi-allelic truncating mutations in VWA1 cause neuromyopathyMarcus Deschauer, Holger Hengel, Katrin Rupprich, et al.
Molecular Psychiatry|May 6, 2018
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorderSuzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, et al.
Human Mutation|September 24, 2019
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activationNicole Weisschuh, Marc Sturm, Britta Baumann, et al.
Allergy|September 7, 2022
Allergic disease trajectories up to adolescence: Characteristics, early-life, and genetic determinantsAnna Kilanowski, Elisabeth Thiering, Gang Wang, et al.
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