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The Journal of Molecular Diagnostics : JMD|March 20, 2017
Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNAJennifer Reiner, Lisa Karger, Ninette Cohen, et al.
Human Molecular Genetics|June 24, 2010
Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndromeStuart A Scott, Ninette Cohen, Tracy Brandt, et al.
European Journal of Medical Genetics|September 24, 2013
46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1Tracy Brandt, Leah Blanchard, Khyati Desai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 20, 2010
Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridizationStuart A Scott, Ninette Cohen, Tracy Brandt, et al.
NPJ Genomic Medicine|January 26, 2018
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletionJennifer Reiner, Laura Pisani, Wanqiong Qiao, et al.
American Journal of Medical Genetics. Part A|April 11, 2012
Complex autism spectrum disorder in a patient with a 17q12 microduplicationTracy Brandt, Khyati Desai, David Grodberg, et al.
Molecular Genetics & Genomic Medicine|June 21, 2019
Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpointsLisong Shi, Yan Bai, Yara Kharbutli, et al.
American Journal of Medical Genetics. Part A|December 14, 2007
Multiple hemangiomas in a patient with a t(3q;4p) translocation: an infrequent association with Wolf-Hirschhorn syndromeSherly Pardo, Netta Blitman, Bokyung Han, et al.
BMC Medical Genomics|March 20, 2019
Familial inheritance of the 3q29 microdeletion syndrome: case report and reviewWahab A Khan, Ninette Cohen, Stuart A Scott, et al.
European Journal of Medical Genetics|October 13, 2012
Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1James D Weisfeld-Adams, Lisa Edelmann, Inder K Gadi, et al.
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