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Molecular Genetics & Genomic Medicine|December 8, 2018
Targeted next-generation sequencing approach for molecular genetic diagnosis of hereditary colorectal cancer: Identification of a novel single nucleotide germline insertion in adenomatous polyposis coli gene causes familial adenomatous polyposisDan Wang, Shengyun Liang, Xipeng Zhang, et al.
Molecular Genetics & Genomic Medicine|December 15, 2018
Identification of ANLN as a new likely pathogenic gene of branchio-otic syndrome in a three-generation Chinese familyLisha Deng, Yuanzhen Liu, Wenjun Xia, et al.
Molecular Genetics & Genomic Medicine|December 20, 2018
Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patientsYu Xia, Shufang Huang, Yueheng Wu, et al.
Molecular Genetics & Genomic Medicine|December 26, 2018
Genetics and genomics in Peru: Clinical and research perspectiveHeinner Guio, Julio A Poterico, Kelly S Levano, et al.
Molecular Genetics & Genomic Medicine|June 24, 2022
Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze typeGao Chun Fang, Ding Kaiwei, Zeng Lingkong, et al.
Molecular Genetics & Genomic Medicine|June 24, 2022
The first glycine-to-tryptophan substitution in the COL1A1 gene identified in a patient with progressively-deforming Osteogenesis imperfectaKinga Sałacińska, Izabela Michałus, Iwona Pinkier, et al.
Molecular Genetics & Genomic Medicine|June 25, 2022
NAT2 and CYP2E1 polymorphisms and antituberculosis drug-induced hepatotoxicity in Peruvian patientsLuis Jaramillo-Valverde, Kelly S Levano, David D Tarazona, et al.
Molecular Genetics & Genomic Medicine|June 3, 2021
A novel pathogenic splice site variation in STK11 gene results in Peutz-Jeghers syndromeNa Zhao, Huizhi Wu, Ping Li, et al.
Molecular Genetics & Genomic Medicine|May 31, 2021
CHL1 deletion is associated with cognitive and language disabilities - Case report and review of literatureMelissa Tsuboyama, Mohammed Anwar Iqbal
Molecular Genetics & Genomic Medicine|May 31, 2021
Identification of novel mutation in RANKL by whole-exome sequencing in a Thai family with osteopetrosis; a case report and review of RANKL osteopetrosisPongtawat Lertwilaiwittaya, Bhoom Suktitipat, Phongphak Khongthon, et al.
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