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Molecular Genetics & Genomic Medicine|May 24, 2019
Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita familyCaixia He, Shuang Jing, Congling Dai, et al.
Molecular Genetics & Genomic Medicine|May 26, 2019
VCF-Server: A web-based visualization tool for high-throughput variant data mining and managementJianping Jiang, Jianlei Gu, Tingting Zhao, et al.
Molecular Genetics & Genomic Medicine|May 29, 2019
Gene expression in blood from an individual with β-thalassemia: An RNA sequence analysisForough Taghavifar, Mohammad Hamid, Gholamreza Shariati
Molecular Genetics & Genomic Medicine|April 15, 2022
Somatic TEK variant with intraarticular venous malformation and knee hemarthrosis treated with rapamycinSalma Adham, Nicole Revencu, Sandrine Mestre, et al.
Molecular Genetics & Genomic Medicine|March 23, 2022
Atypical phenotype of a patient with Bardet-Biedl syndrome type 4Natacha Sloboda, Laetitia Lambert, Viorica Ciorna, et al.
Molecular Genetics & Genomic Medicine|October 12, 2021
Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature reviewJill K Tjon, Phillis Lakeman, Elisabeth van Leeuwen, et al.
Molecular Genetics & Genomic Medicine|October 20, 2021
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective studyYue Yu, Ruixue Shuai, Lili Liang, et al.
Molecular Genetics & Genomic Medicine|January 29, 2022
Accelerated epigenetic age and shortened telomere length based on DNA methylation in Nicolaides-Baraitser syndromeYutaka Shinko, Satoshi Okazaki, Ikuo Otsuka, et al.
Molecular Genetics & Genomic Medicine|October 27, 2021
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variantsAnastasia Dell'Elice, Giulia Cini, Mara Fornasarig, et al.
Molecular Genetics & Genomic Medicine|October 21, 2021
Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosisShang Li, Hua-Ying Hu, Jun-Jun Xu, et al.
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