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American Journal of Medical Genetics. Part A|December 17, 2024
A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent RhabdomyolysisEyyup Uctepe, Hanifenur Mancılar, Fatma Nisa Esen, et al.
American Journal of Medical Genetics. Part A|December 10, 2024
Proband-Only Exome Sequencing for Intellectual Disability in Iran: Diagnostic Yield and Genetic InsightsSafoura Ghalamkari, Hamidreza Mianesaz, Ahmad Chitsaz, et al.
American Journal of Medical Genetics. Part A|December 23, 2024
A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type IIMackenna E Schouw, Claudia A L Ruivenkamp, Tamara T Koopmann, et al.
American Journal of Medical Genetics. Part A|December 23, 2024
Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' ManagementAlexa McAdam, Yoko A Ito, Marilyn Richard, et al.
American Journal of Medical Genetics. Part A|November 14, 2024
Insights From a Novel Splicing Variant and Recurrent Arginine Variants in the CHD3 Gene Causing Snijders Blok-Campeau SyndromeXiaoling Tie, Fengyu Che, Siting Liu, et al.
American Journal of Medical Genetics. Part A|November 11, 2024
Hailey-Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1Jenny Blechingberg, Thorkild Terkelsen, Uffe Birk Jensen, et al.
American Journal of Medical Genetics. Part A|November 9, 2024
A second RUBCN variant associated with epileptic encephalopathy and neurodevelopmental delayLodin-Pasquier Magalie, Capri Yline, Patat Olivier, et al.
American Journal of Medical Genetics. Part A|February 25, 2025
A Case of Prenatal Diagnosis of NFIA -Related Disorder Indicated by Noninvasive Prenatal TestingGanye Zhao, Shaozhe Yang, Xiangdong Kong
American Journal of Medical Genetics. Part A|February 24, 2025
Survey of Patients With Sanfilippo Type a (MPS IIIA) Disease Diagnosed by the MPS Brazil NetworkYorran Hardman Araújo Montenegro, Franciele Barbosa Trapp, Simone Silva Dos Santos-Lopes, et al.
American Journal of Medical Genetics. Part A|February 15, 2025
Research Priorities of Individuals and Families With Sex Chromosome AneuploidiesAlexandra Carl, Samantha Bothwell, Fathia Farah, et al.
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