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American Journal of Medical Genetics. Part A|February 24, 2015
Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeveTara L Wenger, Elizabeth J Bhoj, Ralph F Wetmore, et al.American Journal of Medical Genetics. Part A|June 26, 2015
Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndromeElizabeth J Bhoj, Dong Li, Margaret H Harr, et al.American Journal of Medical Genetics. Part A|February 16, 2018
De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomaliesHailey Pinz, Louise C Pyle, Dong Li, et al.Journal of Clinical Immunology|August 26, 2021
Chromatin Modifications in 22q11.2 Deletion SyndromeZhe Zhang, LiHua Shi, Li Song, et al.American Journal of Medical Genetics. Part A|March 8, 2021
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathiesDena R Matalon, David A Stevenson, Elizabeth J Bhoj, et al.American Journal of Medical Genetics|September 5, 2002
Omodysplasia: an affected mother and sonCharles P Venditti, Jennifer Farmer, Karen L Russell, et al.European Journal of Human Genetics : EJHG|May 23, 2022
Genetics etiologies and genotype phenotype correlations in a cohort of individuals with central conducting lymphatic anomalyMandi Liu, Christopher L Smith, David M Biko, et al.The Journal of Thoracic and Cardiovascular Surgery|May 1, 2007
Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgeryJ William Gaynor, Gil Wernovsky, Gail P Jarvik, et al.The Journal of Thoracic and Cardiovascular Surgery|April 4, 2006
Neurodevelopmental outcome after early repair of a ventricular septal defect with or without aortic arch obstructionJonathan R Kaltman, Gail P Jarvik, Judy Bernbaum, et al.American Journal of Medical Genetics. Part A|November 22, 2012
Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical regionKosuke Izumi, Laura K Conlin, Donna Berrodin, et al.Pageof 63