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American Journal of Human Genetics|June 5, 2018
TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal HyperparathyroidismYoshiro Suzuki, David Chitayat, Hirotake Sawada, et al.
Public Health Genomics|January 24, 2015
A one-page summary report of genome sequencing for the healthy adultJason L Vassy, Heather M McLaughlin, Heather L McLaughlin, et al.
BMC Medical Genetics|February 26, 2015
A systematic approach to the reporting of medically relevant findings from whole genome sequencingHeather M McLaughlin, Ozge Ceyhan-Birsoy, Kurt D Christensen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 4, 2015
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivityAhmed A Alfares, Melissa A Kelly, Gregory McDermott, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 23, 2015
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivityAhmed A Alfares, Melissa A Kelly, Gregory McDermott, et al.
American Journal of Human Genetics|October 6, 2010
Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathyHeather M McLaughlin, Reiko Sakaguchi, Cuiping Liu, et al.
American Journal of Medical Genetics. Part A|May 29, 2021
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23William Burns, Lynne M Bird, Delphine Heron, et al.
Trials|March 21, 2014
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicineJason L Vassy, Denise M Lautenbach, Heather M McLaughlin, et al.
The Journal of Molecular Diagnostics : JMD|July 30, 2016
Health Care Infrastructure for Financially Sustainable Clinical GenomicsJochen K Lennerz, Heather M McLaughlin, Jason M Baron, et al.
Human Genetics|September 30, 2016
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart diseaseLijiang Ma, Yavuz Bayram, Heather M McLaughlin, et al.
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