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Journal of Genetic Counseling|September 27, 2021
Management of amended variant classification laboratory reports by genetic counselors in the United States and Canada: An exploratory studyBrooke Richardson, Sara M Fitzgerald-Butt, Katherine G Spoonamore, et al.
American Journal of Medical Genetics. Part A|January 27, 2010
OEIS complex associated with chromosome 1p36 deletion: a case report and reviewAyman W El-Hattab, Josh C Skorupski, Michael H Hsieh, et al.
European Journal of Human Genetics : EJHG|December 2, 2010
MECP2 duplications in six patients with complex sex chromosome rearrangementsAmy M Breman, Melissa B Ramocki, Sung-Hae L Kang, et al.
European Journal of Medical Genetics|August 25, 2018
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomalyNishitha R Pillai, Dana Marafi, Sonia A Monteiro, et al.
Journal of Human Genetics|May 20, 2011
LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joiningJunko Oshima, Jennifer A Lee, Amy M Breman, et al.
American Journal of Obstetrics and Gynecology|October 17, 2017
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratoryAndrea K Petersen, Sau Wai Cheung, Janice L Smith, et al.
Prenatal Diagnosis|September 17, 2008
Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGHWeimin Bi, Amy M Breman, Susan F Venable, et al.
Human Immunology|February 22, 2019
Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemiaAndrew L Lobashevsky, Mary Krueger-Sersen, Rebecca M Britton, et al.
American Journal of Medical Genetics. Part A|July 17, 2009
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic herniaMargaret J Wat, Oleg A Shchelochkov, Ashley M Holder, et al.
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