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Case Reports in Genetics|December 24, 2025
A Complex Chromosome Rearrangement Disrupting SYT1 Supports Haploinsufficiency as a Cause of Baker-Gordon SyndromeDébora Romeo Bertola, Sofia de Oliveira Farias, Silvia Souza da Costa, et al.Case Reports in Genetics|October 27, 2025
Bone Marrow Failure Associated With Short Telomeres and Digenic Variants of Uncertain Significance in Telomere Biology GenesAkhila Vadivelan, Geraldine Aubert, Julian A Martinez, et al.Case Reports in Genetics|August 4, 2025
Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet DeformityTatiana Mikhailova, Ria GargCase Reports in Genetics|April 10, 2025
Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature ReviewRory Edwards, Grace Murphy, Joshua W Owens, et al.Case Reports in Genetics|February 23, 2026
A Rare Case of Concurrent SNRPB Mutation and 22q11.2 Microduplication in a Child With Cerebro-Costo-Mandibular SyndromeElizabeth Slear, Claire Thompson, Virginia RuasCase Reports in Genetics|February 7, 2024
Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe PresentationAfia Hasnain, Laura L Thompson, Nicole L Hoppman, et al.Case Reports in Genetics|July 27, 2023
Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile HydrocephalusPalanikumar Balasundaram, Indirapriya Darshini Avulakunta, Leslie Delfiner, et al.Case Reports in Genetics|September 8, 2023
Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin AmericaEmilio Israel Wong-Valenzuela, Daniel San Juan, José Santos Zambrano, et al.Case Reports in Genetics|April 13, 2026
Complete Androgen Insensitivity Syndrome (CAIS) Genetic Counseling: Navigating Germline Mosaicism ConcernsLauren M Iacono, Paul A Levy, Tamar G BaerPageof 34