Showing results (21-30 of 335) with videos related to
Sort By:
Pageof 34
Case Reports in Genetics|December 11, 2012
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case ReportsF Sheth, O R Akinde, C Datar, et al.Case Reports in Genetics|July 11, 2013
Fetoplacental discrepancy with normal karyotype in amniotic fluid and two different cell lines in placentaVeronica Ortega, Christina Mendiola, Eric Williamson, et al.Case Reports in Genetics|August 29, 2013
Prenatal diagnosis of fetal peters' plus syndrome: a case reportNeerja Gupta, Anita Kaul, Madhulika KabraCase Reports in Genetics|November 30, 2012
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian FamilyJayesh J Sheth, Chitra M Ankleshwaria, Rajeshwari Pawar, et al.Case Reports in Genetics|October 2, 2018
Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three ChildrenRathika Damodara Shenoy, Vijaya Shenoy, Vikram ShettyCase Reports in Genetics|May 22, 2019
First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital HyperinsulinismTheocharis Koufakis, Amalia Sertedaki, Elizabeth-Barbara Tatsi, et al.Case Reports in Genetics|September 27, 2017
A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype CorrelationAna Isabel Sánchez, Jorge Armando RojasCase Reports in Genetics|January 21, 2020
Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE SyndromeT M Morgan, J M Colazo, L Duncan, et al.Case Reports in Genetics|May 27, 2022
Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental FindingJulie Fischer, Luis RohenaCase Reports in Genetics|June 6, 2022
Pitfalls in Genetic Testing for Consanguineous Pediatric PopulationsMaha Saleh, Samantha Colaiacovo, Melanie P Napier, et al.Pageof 34