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European Journal of Human Genetics : EJHG|October 26, 2021
Prenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domainSonja Neuser, Ilona Krey, Annemarie Schwan, et al.
Scientific Reports|August 5, 2022
Altered gene expression profiles impair the nervous system development in individuals with 15q13.3 microdeletionMarek B Körner, Akhil Velluva, Linnaeus Bundalian, et al.
Brain : a Journal of Neurology|March 15, 2024
Dominant CST3 variants cause adult onset leukodystrophy without amyloid angiopathyCaroline G Bergner, Marjolein Breur, M Clara Soto-Bernardini, et al.
International Journal of Obesity (2005)|November 25, 2020
Reduced lipolysis in lipoma phenocopies lipid accumulation in obesityDiana Le Duc, Chen-Ching Lin, Yulia Popkova, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 29, 2021
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individualsPia Zacher, Thomas Mayer, Frank Brandhoff, et al.
Nucleic Acids Research|November 11, 2017
DrugBank 5.0: a major update to the DrugBank database for 2018David S Wishart, Yannick D Feunang, An C Guo, et al.
Signal Transduction and Targeted Therapy|April 25, 2024
Dysfunction of the adhesion G protein-coupled receptor latrophilin 1 (ADGRL1/LPHN1) increases the risk of obesityAndré Nguyen Dietzsch, Hadi Al-Hasani, Joachim Altschmied, et al.
Science Advances|February 4, 2022
Genomic basis for skin phenotype and cold adaptation in the extinct Steller's sea cowDiana Le Duc, Akhil Velluva, Molly Cassatt-Johnstone, et al.
Obesity (Silver Spring, Md.)|September 27, 2023
Genetic dissection of serum vaspin highlights its causal role in lipid metabolismJana Breitfeld, Katrin Horn, Diana Le Duc, et al.
Clinical Genetics|July 3, 2021
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorderStephanie Oates, Michael Absoud, Sushma Goyal, et al.
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