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Prenatal Diagnosis|January 1, 2024
Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20CCourtney P Verscaj, Carly Smith, Margaret Homeyer, et al.Prenatal Diagnosis|November 5, 2020
RASopathies: A significant cause of polyhydramnios?Rachel Mangels, Yair J Blumenfeld, Margaret Homeyer, et al.American Journal of Medical Genetics. Part A|April 23, 2015
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactylyEdward D Esplin, Hassan Chaib, Michael Haney, et al.Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine|May 11, 2016
Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal PeriodYair J Blumenfeld, Alexis S Davis, Susan R Hintz, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 15, 2014
Clinical whole-exome sequencing: are we there yet?Paldeep Singh Atwal, Marie-Louise Brennan, Rachel Cox, et al.Journal of Perinatology : Official Journal of the California Perinatal Association|June 23, 2019
Prenatally diagnosed omphalocele: characteristics associated with adverse neonatal outcomesValerie Y Chock, Alexis S Davis, Seo-Ho Cho, et al.American Journal of Medical Genetics. Part A|September 25, 2014
Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndromeAngela Myers, Jonathan A Bernstein, Marie-Luise Brennan, et al.Molecular Genetics and Metabolism|February 4, 2018
Prenatal treatment of ornithine transcarbamylase deficiencyYael Wilnai, Yair J Blumenfeld, Kristina Cusmano, et al.Pageof 1