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Case Reports in Genetics|October 18, 2012
Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomalyRachel O'Connor, Amel Al-Murrani, Salim Aftimos, et al.Case Reports in Genetics|October 18, 2012
Autism spectrum disorder in a girl with a de novo x;19 balanced translocationMarcelo Razera Baruffi, Deise Helena de Souza, Rosana Aparecida Bicudo da Silva, et al.Case Reports in Genetics|October 18, 2012
Detection of chromosome x;18 breakpoints and translocation of the xq22.3;18q23 regions resulting in variable fertility phenotypesAttila Szvetko, Nicole Martin, Chris Joy, et al.Case Reports in Genetics|October 29, 2025
RAPSN-Associated Congenital Myasthenic Syndrome due to Biallelic Single Nucleotide Variants at the Same PositionLaura Keehan, Jennefer N Carter, Elijah Kravets, et al.Case Reports in Genetics|September 10, 2025
A Novel Case of NOTCH1 Variant and Nonimmune Hydrops Fetalis: A Case ReportGenevieve R Mazza, Alesandra R Rau, Madushka Y De ZoysaCase Reports in Genetics|July 8, 2024
A Fatal Case of 3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Term Infant with Severe High Anion Gap Acidosis and Review of the LiteratureSurasak Puvabanditsin, Ian Lee, Natasha Cordero, et al.Case Reports in Genetics|April 1, 2024
Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated HyperphosphatasiaOsama Obaid, Reem Batawi, Heba Alqurashi, et al.Case Reports in Genetics|January 29, 2024
Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia SyndromeKyriaki Papadopoulou-Legbelou, Maria Ntoumpara, Maria Kavga, et al.Case Reports in Genetics|August 7, 2024
Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case AnalysisFiona Whitaker, Alvaro SerranoCase Reports in Genetics|July 25, 2024
Phenotype-Genotype Discordance and a Case of a Disorder of Sexual DifferentiationMadeline Snipes, Stephanie Stokes, Amy Vidalin, et al.Pageof 34