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Molecular Genetics & Genomic Medicine|October 10, 2023
Early-onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian familyFieke W Hoff, Chao Xing, Vinaya Simha, et al.
Molecular Genetics & Genomic Medicine|October 25, 2023
COPA syndrome caused by a novel p.Arg227Cys COPA gene variantYue Zheng, Yue Du, Yubin Wu, et al.
Molecular Genetics & Genomic Medicine|October 5, 2023
Gender-dependent multiple cross-phenotype association of interferon lambda genetic variants with peripheral blood profiles in healthy individualsDebarati Guha Roy, Lucky Singh, Himanshu K Chaturvedi, et al.
Molecular Genetics & Genomic Medicine|October 4, 2023
Recurrent human 16p11.2 microdeletions in type I Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients in Chinese Han populationKaizhen Su, Han Liu, Xiaoqun Ye, et al.
Molecular Genetics & Genomic Medicine|October 3, 2023
Association of family sequence similarity gene 13A gene polymorphism and interstitial lung disease susceptibility: A systematic review and meta-analysisYinan Hu, Zhen Li, Yanhong Ren, et al.
Molecular Genetics & Genomic Medicine|September 19, 2023
Mutations in CFAP47, a previously reported MMAF causative gene, also contribute to the respiratory defects in patients with PCDHaijun Ge, Wangji Zhou, Miao He, et al.
Molecular Genetics & Genomic Medicine|July 17, 2023
MRI characteristics due to gene mutations in a Chinese pedigree with Lafora diseaseYueqian Sun, Ziqi Zhou, Qun Wang, et al.
Molecular Genetics & Genomic Medicine|July 25, 2023
Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disordersLiping Zhang, Xu-Ying Li, Fanxi Xu, et al.
Molecular Genetics & Genomic Medicine|July 26, 2023
Identification of a de novo variant in the ASXL2 gene related to Shashi-Pena syndromeYanyan Zheng, Le Yang, Mengmeng Niu, et al.
Molecular Genetics & Genomic Medicine|June 24, 2023
Evaluation of the clinical effects of non-invasive prenatal screening for diseases associated with aneuploidy and copy number variationShaohua Zhu, Chunyang Jia, Shengju Hao, et al.
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