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Molecular Genetics & Genomic Medicine|August 18, 2023
Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosisFatima Alabdulrazzaq, Talal Alanzi, Haya H Al-Balool, et al.
Molecular Genetics & Genomic Medicine|August 18, 2023
Phenotypic and genetic characteristics of 24 cases of early infantile epileptic encephalopathy in East China, including a rare case of biallelic UGDH mutationsLiangliang Jiang, Shaohua Bi, Li Lin, et al.
Molecular Genetics & Genomic Medicine|August 7, 2023
In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndromeHung Manh Pham, Duy Phuong Dang, Thanh Dat Ta, et al.
Molecular Genetics & Genomic Medicine|January 29, 2024
Carrier screening for spinal muscular atrophy in 22913 Chinese reproductive age womenLijun Zhang, Junluan Mo, Lu Zhou, et al.
Molecular Genetics & Genomic Medicine|January 24, 2024
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean familySeung Woo Ryu, Ji-Hee Yoon, Dong-Wook Kim, et al.
Molecular Genetics & Genomic Medicine|January 29, 2024
Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigreeLingyi Li, Xiaowei Qu, Chenchen Cui, et al.
Molecular Genetics & Genomic Medicine|December 26, 2023
Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigreeKeke Jiang, Shuying Wang, Huixin Sun, et al.
Molecular Genetics & Genomic Medicine|December 13, 2023
Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literatureJiayi Li, Chuan Zhang, Xinyuan Tian, et al.
Molecular Genetics & Genomic Medicine|December 19, 2023
Mutation spectrum of thalassemia among pre-pregnant adults in the Jiangsu Province by capillary electrophoresis-based multiplex PCR assayBinbin Shao, Yuguo Wang, Jingjing Zhang, et al.
Molecular Genetics & Genomic Medicine|December 12, 2023
Prenatal diagnosis of developmental and epileptic encephalopathy 9 with a 10.05-Mb microdeletion at Xq21.31q22.1 inherited from mother: A case report and literature reviewJuan Zhu, Zhenzhen Liu, Feng Geng, et al.
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