Showing results (281-290 of 335) with videos related to
Sort By:
Pageof 34
Case Reports in Genetics|December 15, 2015
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati SyndromeMolly B Sheridan, Elizabeth Wohler, Denise A S Batista, et al.Case Reports in Genetics|December 8, 2017
SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral AbnormalitiesMichael Zech, Katharina Poustka, Sylvia Boesch, et al.Case Reports in Genetics|September 9, 2017
Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the LiteratureWilliam S Baek, Umut AyparCase Reports in Genetics|February 2, 2018
A Novel Mutation in ACTG2 Gene in Mother with Chronic Intestinal Pseudoobstruction and Fetus with Megacystis Microcolon Intestinal Hypoperistalsis SyndromeJulie R Whittington, Aaron T Poole, Eryn H Dutta, et al.Case Reports in Genetics|November 11, 2017
Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate MetabolizerSofia Garcia, Michael Schuh, Anvir Cheema, et al.Case Reports in Genetics|November 27, 2018
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual DisabilityNadia Al-Hashmi, Mohammed Mohammed, Salim Al-Kathir, et al.Case Reports in Genetics|February 13, 2013
Detection of t(14;16)(q32;q22) and Monosomy 13 by FISH Analysis in a Patient with Multiple Myeloma Associated with Sjögren's Syndrome: The First Case Report from IndiaRupesh R Sanap, Arundhati S Athalye, Prochi F Madon, et al.Case Reports in Genetics|February 13, 2013
Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicismJonathan Lévy, Jean-Marie Jouannic, Julien Saada, et al.Case Reports in Genetics|July 22, 2014
Complex variant of Philadelphia translocation involving chromosomes 9, 12, and 22 in a case with chronic myeloid leukaemiaF Malvestiti, C Agrati, S Chinetti, et al.Case Reports in Genetics|January 16, 2013
Gain of chromosome 4qter and loss of 5pter: an unusual case with features of cri du chat syndromeFrenny Sheth, Naresh Gohel, Thomas Liehr, et al.Pageof 34