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The Journal of Clinical Endocrinology and Metabolism|November 12, 2014
Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expressionAdi Reich, Alison S Bae, Aileen M Barnes, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 30, 2013
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiencyMaria I New, Moolamannil Abraham, Brian Gonzalez, et al.
American Journal of Medical Genetics. Part A|August 26, 2017
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delayResham Ejaz, Anath C Lionel, Susan Blaser, et al.
The American Journal of Psychiatry|August 17, 2018
Risk of Major Malformations in Infants Following First-Trimester Exposure to QuetiapineLee S Cohen, Lina Góez-Mogollón, Alexandra Z Sosinsky, et al.
American Journal of Human Genetics|May 13, 2003
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasiaAlexandre Irrthum, Koenraad Devriendt, David Chitayat, et al.
Genome Medicine|April 4, 2009
The cycle of genome-directed medicineJanet A Buchanan, Andrew R Carson, David Chitayat, et al.
Annals of the American Thoracic Society|April 5, 2014
Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis?Chee Y Ooi, Annie Dupuis, Tanja Gonska, et al.
American Journal of Medical Genetics. Part A|December 17, 2009
Hypospadias in males with intrauterine growth restriction due to placental insufficiency: the placental role in the embryogenesis of male external genitaliaYoav Yinon, John C P Kingdom, Leslie K Proctor, et al.
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