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Case Reports in Genetics|March 29, 2021
Multimodal Imaging Characteristics of ADRP in a Family with p.Thr58Arg Substituted RHO MutationMisty Ruppert, John Pyun, K V Chalam, et al.Case Reports in Genetics|August 25, 2020
"Isolated" Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical CaseAnne-Laure Bonnet, Kevin Sceosole, Arabelle Vanderzwalm, et al.Case Reports in Genetics|June 24, 2014
Intrauterine growth retardation fetus with trisomy 16 mosaicismTakol Chareonsirisuthigul, Suchin Worawichawong, Rachanee Parinayok, et al.Case Reports in Genetics|July 4, 2014
Clinical report of a 17q12 microdeletion with additionally unreported clinical featuresJennifer L Roberts, Stephanie K Gandomi, Melissa Parra, et al.Case Reports in Genetics|October 18, 2012
Bartsocas-papas syndrome: unusual findings in the first reported egyptian familyE M Abdalla, H MorsyCase Reports in Genetics|October 18, 2012
Prenatal Diagnosis of Cystic Hygroma related to a Deletion of 16q24.1 with Haploinsufficiency of FOXF1 and FOXC2 GenesMatthew J Garabedian, Donna Wallerstein, Nubia Medina, et al.Case Reports in Genetics|October 18, 2012
Unique case reports associated with ovarian failure: necessity of two intact x chromosomesLakshmi Rao Kandukuri, Venkata Padmalatha, Murthy Kanakavalli, et al.Case Reports in Genetics|November 8, 2012
Prenatal diagnosis and postnatal followup of partial trisomy 13q and partial monosomy 10p: a case report and review of the literatureYuan Wei, Xuefeng Gao, Liying Yan, et al.Case Reports in Genetics|August 15, 2022
Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic PIK3CA MutationJordan H Driskill, Helena Hwang, Alexandra K Callan, et al.Case Reports in Genetics|November 27, 2025
Kufor-Rakeb Syndrome in a Guatemalan Patient With an ATP13A2 Gene Pathogenic Variant: A Case ReportRebeca Méndez-Veras, Allan Urbizo, Julio Cabrera, et al.Pageof 34