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American Journal of Medical Genetics. Part A|May 20, 2020
Novel de novo TRIP12 mutation reveals variable phenotypic presentation while emphasizing core features of TRIP12 variationsTess Donoghue, Lauren Garrity, Andrew Ziolkowski, et al.
American Journal of Medical Genetics. Part A|April 29, 2021
Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, JrPedro A Sanchez-Lara, Katheryn Grand, Maria K Haanpää, et al.
American Journal of Medical Genetics. Part A|May 3, 2021
Hypoxia: A teratogen underlying a range of congenital disruptions, dysplasias, and malformationsAaron P Adam, Kurlen S E Payton, Pedro A Sanchez-Lara, et al.
American Journal of Medical Genetics. Part A|June 24, 2020
Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencingJohanna L Schmidt, Amy Pizzino, Jessica Nicholl, et al.
American Journal of Medical Genetics. Part A|June 24, 2020
Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresiaMersedeh Rohanizadegan, Sarah Tracy, Carolina I Galarreta, et al.
American Journal of Medical Genetics. Part A|May 4, 2021
Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North IndiaAmita Moirangthem, Kausik Mandal, Deepti Saxena, et al.
American Journal of Medical Genetics. Part A|November 12, 2022
Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing lossQiuquan Wang, Jie Wu, Jinyuan Yang, et al.
American Journal of Medical Genetics. Part A|November 12, 2022
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patientsClémence Jacquin, Emilie Landais, Céline Poirsier, et al.
American Journal of Medical Genetics. Part A|September 13, 2021
The rate of secondary genomic findings in the Saudi populationTaghrid Aloraini, Lamia Alsubaie, Sarah Alasker, et al.
American Journal of Medical Genetics. Part A|August 23, 2005
Detection of an unexpected subtelomeric 15q26.2 --> qter deletion in a little girl: clinical and cytogenetic studiesL Pinson, A Perrin, C Plouzennec, et al.
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