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Journal of Bacteriology|December 17, 2014
Resuscitation-promoting factors are cell wall-lytic enzymes with important roles in the germination and growth of Streptomyces coelicolorDanielle L Sexton, Renée J St-Onge, Henry J Haiser, et al.
American Journal of Medical Genetics. Part A|May 2, 2022
MYH7 variants cause complex congenital heart diseaseAlyssa Ritter, Jacqueline Leonard, Christopher Gray, et al.
American Journal of Medical Genetics. Part A|August 6, 2021
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypesAlanna Strong, Cara Skraban, Kevin Meyers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2019
Clinical utility of exome sequencing in infantile heart failureAlyssa Ritter, Emma Bedoukian, Justin H Berger, et al.
The Journal of Pediatrics|November 3, 2023
Diagnostic Yield of Exome Sequencing in Pediatric CardiomyopathyJulia Keisling, Emma Bedoukian, Danielle S Burstein, et al.
American Journal of Medical Genetics. Part A|February 16, 2023
Expanding the reproductive organ phenotype of CHD7-spectrum disorderTomoki T Nomakuchi, Melinda Danowitz, Blythe Stewart, et al.
American Journal of Medical Genetics. Part A|July 20, 2024
Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypesTomoki T Nomakuchi, Eden Y Teferedegn, Dong Li, et al.
Clinical Genetics|October 21, 2021
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 geneServi J C Stevens, Constance T R M Stumpel, Karin E M Diderich, et al.
Pediatrics|February 28, 2020
A Centralized Approach for Practicing Genomic MedicineSawona Biswas, Livija Medne, Batsal Devkota, et al.
American Journal of Human Genetics|July 16, 2019
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental DisorderLot Snijders Blok, Tjitske Kleefstra, Hanka Venselaar, et al.
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