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Molecular Genetics & Genomic Medicine|May 15, 2023
Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel LACC1 frameshift mutation and literature reviewYali Wu, Shasha Wang, Wen Yin, et al.
Molecular Genetics & Genomic Medicine|May 19, 2023
A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature reviewYan Xue, Yiran Zhao, Bo Wu, et al.
Molecular Genetics & Genomic Medicine|July 29, 2020
Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosisRadoslaw Debiec, Stephen E Hamby, Peter D Jones, et al.
Molecular Genetics & Genomic Medicine|August 4, 2020
A module of multifactor-mediated dysfunction guides the molecular typing of coronary heart diseaseYuewei Li, Maohuan Lin, Kangjie Wang, et al.
Molecular Genetics & Genomic Medicine|August 4, 2020
Genetic counseling during COVID-19 pandemic: Tuscany experienceAngelica Pagliazzi, Giorgia Mancano, Giulia Forzano, et al.
Molecular Genetics & Genomic Medicine|August 4, 2020
Primary coenzyme Q10 deficiency due to COQ8A gene mutationsLinwei Zhang, Tetsuo Ashizawa, Dantao Peng
Molecular Genetics & Genomic Medicine|July 16, 2020
Identification of histone malonylation in the human fetal brain and implications for diabetes-induced neural tube defectsQin Zhang, Tanxi Cai, Zonghui Xiao, et al.
Molecular Genetics & Genomic Medicine|July 16, 2020
Association of genetic variants at CETP, AGER, and CYP4F2 locus with the risk of atrophic age-related macular degenerationRasa Liutkeviciene, Alvita Vilkeviciute, Loresa Kriauciuniene, et al.
Molecular Genetics & Genomic Medicine|March 25, 2015
Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencingYosuke Hirotsu, Hiroshi Nakagomi, Ikuko Sakamoto, et al.
Molecular Genetics & Genomic Medicine|March 25, 2015
Personalized treatment of Sézary syndrome by targeting a novel CTLA4:CD28 fusionAleksandar Sekulic, Winnie S Liang, Waibhav Tembe, et al.
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