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Molecular Genetics & Genomic Medicine|February 17, 2022
MPZ gene variant site in Chinese patients with Charcot-Marie-Tooth diseaseXiaoyan Hao, Chong Li, Yunguo Lv, et al.
Molecular Genetics & Genomic Medicine|February 25, 2022
Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)Kolja Lau, Nurcan Üçeyler, Tereza Cairns, et al.
Molecular Genetics & Genomic Medicine|February 28, 2022
A novel variant in UBE3A in a family with multigenerational intellectual disability and developmental delayXuechao Zhao, Yuting Zheng, Li Wang, et al.
Molecular Genetics & Genomic Medicine|April 30, 2019
Novel heterozygous BPIFC variant in a Chinese pedigree with hereditary trichilemmal cystsXian-Guo Fu, Zhao Huang, Su-Juan Zhou, et al.
Molecular Genetics & Genomic Medicine|April 16, 2019
Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variationAndrew T Headrick, Jill A Rosenfeld, Yaping Yang, et al.
Molecular Genetics & Genomic Medicine|May 16, 2019
MEIS1 knockdown may promote differentiation of esophageal squamous carcinoma cell line KYSE-30Reihaneh Alsadat Mahmoudian, Bahareh Bahadori, Abolfazl Rad, et al.
Molecular Genetics & Genomic Medicine|May 16, 2019
Healthcare burden among individuals with Angelman syndrome: Findings from the Angelman Syndrome Natural History StudyNasreen Khan, Raquel Cabo, Wen-Hann Tan, et al.
Molecular Genetics & Genomic Medicine|May 16, 2019
Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literatureHung-Hsiang Fang, Shih-Yao Liu, Ying-Fu Wang, et al.
Molecular Genetics & Genomic Medicine|May 17, 2019
Systematic genetic analyses of GWAS data reveal an association between the immune system and insomniaBo Xiang, Kezhi Liu, Minglan Yu, et al.
Molecular Genetics & Genomic Medicine|April 26, 2019
BRPF1-associated intellectual disability, ptosis, and facial dysmorphism in a multiplex familyNaomi Pode-Shakked, Ortal Barel, Ben Pode-Shakked, et al.
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