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Molecular Biology and Evolution|April 21, 2019
Applicability of the Mutation-Selection Balance Model to Population Genetics of Heterozygous Protein-Truncating Variants in HumansDonate Weghorn, Daniel J Balick, Christopher Cassa, et al.
The Journal of Investigative Dermatology|April 13, 2007
A mouse mutation in the 12R-lipoxygenase, Alox12b, disrupts formation of the epidermal permeability barrierJennifer L Moran, Haiyan Qiu, Annick Turbe-Doan, et al.
HGG Advances|November 5, 2024
Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndromeSwetha Ramadesikan, Iftekhar A Showpnil, Mohammad Marhabaie, et al.
Human Molecular Genetics|September 22, 2017
Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in miceZhuo Li, Yanyan Peng, Robert B Hufnagel, et al.
Molecular and Cellular Biology|September 7, 2002
Gene structure and functional analysis of the mouse nidogen-2 gene: nidogen-2 is not essential for basement membrane formation in miceJürgen Schymeinsky, Sabine Nedbal, Nicolai Miosge, et al.
The Journal of Clinical Investigation|February 21, 2002
Cystin, a novel cilia-associated protein, is disrupted in the cpk mouse model of polycystic kidney diseaseXiaoying Hou, Michal Mrug, Bradley K Yoder, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|October 2, 2009
Concurrent Lpin1 and Nrcam mouse mutations result in severe peripheral neuropathy with transitory hindlimb paralysisDarlene S Douglas, Jennifer L Moran, John R Bermingham, et al.
Developmental Biology|August 7, 2025
Centriolar protein PIBF1 is required for craniofacial and forebrain developmentLylyan Pimentel, Seungshin Ha, Yanfen Yang, et al.
Nature Communications|January 3, 2024
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial developmentAndrea Wilderman, Eva D'haene, Machteld Baetens, et al.
Journal of the American Society of Nephrology : JASN|August 25, 2006
Development of polycystic kidney disease in juvenile cystic kidney mice: insights into pathogenesis, ciliary abnormalities, and common features with human diseaseLaurie A Smith, Nikolay O Bukanov, Hervé Husson, et al.
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