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American Journal of Medical Genetics. Part A|June 9, 2006
Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformationDavid B Everman, Chad T Morgan, Robert Lyle, et al.Biological Psychiatry|May 19, 2020
MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in MiceAdam J Harrington, Catherine M Bridges, Stefano Berto, et al.Journal of Medical Genetics|April 14, 2012
Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphaloceleUppala Radhakrishna, Swapan K Nath, Ken McElreavey, et al.Human Molecular Genetics|December 2, 2022
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disordersJessica A Cooley Coleman, Jennifer M Gass, Sujata Srikanth, et al.American Journal of Medical Genetics. Part A|December 23, 2011
Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delayEric A Muller, Swaroop Aradhya, Joan F Atkin, et al.Genome Research|March 24, 2012
Coding exons function as tissue-specific enhancers of nearby genesRamon Y Birnbaum, E Josephine Clowney, Orly Agamy, et al.American Journal of Medical Genetics. Part A|May 3, 2016
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorderFrancisca Millan, Megan T Cho, Kyle Retterer, et al.American Journal of Medical Genetics|October 3, 2002
The mutational spectrum of brachydactyly type CDavid B Everman, Cynthia F Bartels, Yue Yang, et al.Journal of the American Medical Informatics Association : JAMIA|December 1, 2023
Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics WorkgroupNephi A Walton, Radha Nagarajan, Chen Wang, et al.American Journal of Medical Genetics. Part A|December 5, 2012
Clinical utility of the X-chromosome arrayYuri A Zarate, Alka Dwivedi, Frank O Bartel, et al.Pageof 5