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American Journal of Medical Genetics. Part A|July 6, 2023
The importance of gynecological examination in adolescent girls and adult women with Prader-Willi syndromeNaama Srebnik, Tal Margaliot Kalifa, Harry J Hirsch, et al.American Journal of Medical Genetics. Part A|July 24, 2023
Neurofibromatosis- and schwannomatosis-associated tumors: Approaches to genetic testing and counseling considerationsAllison Goetsch Weisman, Shelly Weiss McQuaid, Heather B Radtke, et al.American Journal of Medical Genetics. Part A|June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanismsManinder Kaur, Justin Blair, Batsal Devkota, et al.American Journal of Medical Genetics. Part A|June 27, 2023
The spectrum of hereditary neuromuscular disorders in the Pakistani populationFizza Akbar, Shafaq Muhammad Saleem, Ehtesham Khalid, et al.American Journal of Medical Genetics. Part A|July 28, 2023
An evaluation of clinical presentation and genetic testing approaches for patients with neuromuscular disordersAmanda Rosenberg, Cuixia Tian, Hua He, et al.American Journal of Medical Genetics. Part A|June 24, 2023
Heterozygous variants in TBCK cause a mild neurologic syndrome in humans and miceDivya Nair, Abdias Diaz-Rosado, Elisa Varella-Branco, et al.American Journal of Medical Genetics. Part A|June 20, 2023
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertoniaElizabeth A Werren, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, et al.American Journal of Medical Genetics. Part A|December 28, 2002
Prevalence of mitral valve prolapse in Stickler syndromeNadeem Ahmad, Allan J Richards, Helen C Murfett, et al.American Journal of Medical Genetics. Part A|December 28, 2002
Lack of association between eNOS gene polymorphisms and ischemic heart disease in the Spanish populationMarc Via, Antonio López-Alomar, Neus Valveny, et al.American Journal of Medical Genetics. Part A|December 28, 2002
Muellerian aplasia associated with ring chromosome 8p12q12 mosaicismJudith Loeffler, Elisabeth Soelder, Martin Erdel, et al.Pageof 928