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Case Reports in Genetics|October 18, 2012
A Novel Microduplication in the Neurodevelopmental Gene SRGAP3 That Segregates with Psychotic Illness in the Family of a COS ProbandNicole K A Wilson, Yohan Lee, Robert Long, et al.
Case Reports in Genetics|October 18, 2012
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech DelayAmel Al-Murrani, Fern Ashton, Salim Aftimos, et al.
Case Reports in Genetics|October 18, 2012
Extra Copies of der(21)t(12;21) plus Deletion of ETV6 Gene due to dic(12;18) in B-Cell Precursor ALL with Poor OutcomeMarina Araújo Fonzar Hernandes, Terezinha de Jesus Marques-Salles, Hasmik Mkrtchyan, et al.
Case Reports in Genetics|October 18, 2012
Two portuguese cochlear implanted dizygotic twins: a case reportJoana Rita Chora, Helena Simões-Teixeira, Tiago Daniel Matos, et al.
Case Reports in Genetics|October 18, 2012
Trisomy 11 as an additional chromosome alteration in a child with acute promyelocytic leukemia with poor prognosisElenice Ferreira Bastos, Lidiane Alice Silva, Marcelo Coelho Ramos, et al.
Case Reports in Genetics|January 22, 2025
Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case ReportHasan Hasan, Ellery R Santos, Seyedeh Ala Mokhtabad Amrei, et al.
Case Reports in Genetics|December 2, 2024
Geroderma Osteodysplastica With Concomitant Transposition of Great Vessels: A Case Report and Literature ReviewCharbel Saad, Christine Aoun, Charbel Iskandar, et al.
Case Reports in Genetics|March 14, 2025
Novel CLCNKB Mutation in Two Siblings With Classic Bartter SyndromeNavid Roodaki, Leigh Michelle Salinas, Ebner Bon G Maceda, et al.
Case Reports in Genetics|June 14, 2024
Quadruple Primary Malignancies over 2 Years with Germline Mutation in Krebs Cycle Enzyme Gene Fumarate HydrataseSolaleh Aminian, Fawaz Al-Alloosh, Fatemeh Yadegari, et al.
Case Reports in Genetics|December 25, 2024
Generalized Epileptic Seizures in Fibrodysplasia Ossificans Progressiva Harboring a Recurrent Heterozygous Variant of the ACVR1 Gene (R206H)Kenichi Mishima, Hiroshi Kitoh, Anna Shiraki, et al.
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