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Molecular Genetics & Genomic Medicine|November 16, 2024
In a cohort of 961 clinically suspected Duchenne muscular dystrophy patients, 105 were diagnosed to have other muscular dystrophies (OMDs), with LGMD2E (variant SGCB c.544A>C) being the most commonPriya Karthikeyan, Shalini H Kumar, Arati Khanna-Gupta, et al.
Molecular Genetics & Genomic Medicine|October 7, 2024
Molecular Pathology of Myotonic Dystrophy Type 1 in IcelandE G Hallgrímsdóttir, H Svansson, V F Stefánsdóttir, et al.
Molecular Genetics & Genomic Medicine|September 26, 2024
Clinical Features and Novel Pathogenic Variants of Chinese Patients With McLeod Syndrome and Chorea-AcanthocytosisHao Yu, Ling Li, Xiaoyan Li, et al.
Molecular Genetics & Genomic Medicine|October 1, 2024
Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" CohortClara W T Chung, Adam M Bournazos, Lok Chi Denise Chan, et al.
Molecular Genetics & Genomic Medicine|September 20, 2024
Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani familyAyesha Yousaf, Sairah Yousaf, Asra S Shabbir, et al.
Molecular Genetics & Genomic Medicine|September 13, 2024
The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutationPurevdorj Munkhuu, Munkhtsetseg Bazarragchaa, Purevdorj Ichinkhorloo, et al.
Molecular Genetics & Genomic Medicine|October 28, 2024
Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic OdysseyTomoyasu Higashimoto, Martin E Garber, Lauren Hipp, et al.
Molecular Genetics & Genomic Medicine|February 13, 2025
The Genetics of 241 Fetuses With Talipes Equinovarus: A 8-Year Monocentric Retrospective StudyPingshan Pan, Dongbing Huang, Jiangxuan Wei, et al.
Molecular Genetics & Genomic Medicine|February 17, 2025
The Functions and Implications of MicroRNAs in Premature Ovarian InsufficiencyHui Gao, Xi-Xia Cao, Hua Hua, et al.
Molecular Genetics & Genomic Medicine|February 24, 2025
Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis PigmentosaHe-Nan Sun, Kai-Li Du, Yan Sun, et al.
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