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Oncogene|April 13, 2004
Failure of a medulloblastoma-derived mutant of SUFU to suppress WNT signalingMichael D Taylor, Xiaoyun Zhang, Ling Liu, et al.
European Journal of Medical Genetics|June 22, 2011
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum DisorderBrian H Y Chung, Irene Drmic, Christian R Marshall, et al.
American Journal of Human Genetics|July 1, 1994
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1S W Scherer, P Poorkaj, T Allen, et al.
American Journal of Medical Genetics. Part A|August 26, 2017
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delayResham Ejaz, Anath C Lionel, Susan Blaser, et al.
Data in Brief|July 25, 2019
Genome-wide copy number variant data for inflammatory bowel disease in a caucasian populationSvetlana Frenkel, Charles N Bernstein, Yong Won Jin, et al.
Human Mutation|January 15, 2004
Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsyLeonarda Ianzano, Edwin J Young, Xiao C Zhao, et al.
Genome Medicine|April 4, 2009
The cycle of genome-directed medicineJanet A Buchanan, Andrew R Carson, David Chitayat, et al.
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