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Molecular Genetics & Genomic Medicine|October 4, 2021
Rapid high-resolution melting method to identify human leukocyte antigen-G (HLA-G) 3' untranslated region polymorphism +3142C/G (rs1063320)Hamza Ben Salah, Refka Jelassi, Ines Zidi, et al.
Molecular Genetics & Genomic Medicine|October 4, 2021
Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variationsMing Wei, Yanqin Ying, Zhuxi Li, et al.
Molecular Genetics & Genomic Medicine|February 2, 2022
Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patientsMin Liu, Yue Liang, Bixue Huang, et al.
Molecular Genetics & Genomic Medicine|February 2, 2022
Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) familyJianwei Li, Zhiqiang Wang, Yaxin Han, et al.
Molecular Genetics & Genomic Medicine|April 18, 2022
A novel FOXP3 mutation in a Chinese child with IPEX-associated membranous nephropathyLiwen Tan, Yunfei An, Qin Yang, et al.
Molecular Genetics & Genomic Medicine|April 7, 2022
Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseasesChong Sun, Shengyang Wu, Ruiguo Chen, et al.
Molecular Genetics & Genomic Medicine|April 7, 2022
The use of telemedicine in cardiogenetics clinical practice during the COVID-19 pandemicLusha W Liang, Isha Kalia, Farhana Latif, et al.
Molecular Genetics & Genomic Medicine|July 19, 2022
Descriptive analysis of seizures and comorbidities associated with fragile X syndromeIgor Albizua, Krista Charen, Lisa Shubeck, et al.
Molecular Genetics & Genomic Medicine|July 20, 2022
Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type IZhijie Niu, Yongjing Lai, Wenwen Zhou, et al.
Molecular Genetics & Genomic Medicine|April 27, 2022
Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literatureLydia M Seed, Andrew Dean, Deepa Krishnakumar, et al.
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