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American Journal of Medical Genetics. Part A|June 16, 2016
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndromeAngela E Lin, Caroline Michot, Valerie Cormier-Daire, et al.
Human Molecular Genetics|September 25, 1997
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22G J Feldman, D E Ward, E Lajeunie-Renier, et al.
American Journal of Medical Genetics. Part A|October 12, 2020
EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patientsJennifer L Cohen, Samantha A Schrier Vergano, Sarah Mazzola, et al.
The Journal of Pediatrics|April 25, 2025
Management and Outcomes of Neonates with Treacher Collins and Nager SyndromesTara L Wenger, K Taylor Wild, Isabella Zaniletti, et al.
Clinical Genetics|February 1, 2017
Genotype and phenotype in 12 additional individuals with SATB2-associated syndromeY A Zarate, L Kalsner, A Basinger, et al.
Molecular Psychiatry|October 23, 2021
Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processingEli J Cornblath, Arun Mahadevan, Xiaosong He, et al.
Human Genetics|October 18, 2002
Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndromeAndra Ion, Marco Tartaglia, Xiaoling Song, et al.
American Journal of Medical Genetics. Part A|July 22, 2021
Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequenceTara L Wenger, Jonathan Perkins, Julia Parish-Morris, et al.
Journal of Medical Genetics|December 13, 2012
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DSDonna M McDonald-McGinn, Somayyeh Fahiminiya, Timothée Revil, 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.
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