Showing results (31-40 of 64) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|June 4, 2014
A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotypeJonathan J Edwards, Simone Martinelli, Luca Pannone, et al.
Pharmacogenomics|December 23, 2011
Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALUStuart A Scott, Manishkumar Patel, Suparna Martis, et al.
Molecular Syndromology|February 20, 2018
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous FamilyBarbara Vona, Reza Maroofian, Geetu Mendiratta, et al.
Nature Genetics|June 21, 2005
Mutation in Rpa1 results in defective DNA double-strand break repair, chromosomal instability and cancer in miceYuxun Wang, Christopher D Putnam, Michael F Kane, et al.
The American Journal of Surgical Pathology|April 28, 2010
Dual-color, break-apart FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of Xp11 translocation renal cell carcinoma and alveolar soft part sarcomaMinghao Zhong, Patricia De Angelo, Lisa Osborne, et al.
Pharmacogenomics|February 8, 2019
Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detectionWanqiong Qiao, Suparna Martis, Geetu Mendiratta, et al.
Cellular Reprogramming|August 4, 2010
Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cellsElisa Galende, Ioannis Karakikes, Lisa Edelmann, et al.
Molecular Autism|August 4, 2010
A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical regionL Alison McInnes, Alisa Nakamine, Marion Pilorge, 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|March 3, 2015
Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)David D Weaver, Audrey R Norby, Jill A Rosenfeld, et al.
Pageof 7