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Molecular Genetics & Genomic Medicine|August 25, 2022
Clinical characteristics of 10 Chinese patients with melorheostosis and identification of a somatic MAP2K1 variant in one caseXiaojun Han, Yang Xu, Zhanying Wei, et al.
Molecular Genetics & Genomic Medicine|February 2, 2023
Access to healthcare for people with sickle cell disease: Views of healthcare professionals on policies and practicesObi Peter Adigwe
Molecular Genetics & Genomic Medicine|May 4, 2021
Next-generation sequence-based preimplantation genetic testing for monogenic disease resulting from maternal mosaicismXiao Hu, Wen-Bin He, Shuo-Ping Zhang, et al.
Molecular Genetics & Genomic Medicine|May 5, 2021
A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature reviewHui Yu, Xun He, Xiangqin Liu, et al.
Molecular Genetics & Genomic Medicine|May 7, 2021
Hyperhaemolysis in a pregnant woman with a homozygous β0 -thalassemia mutation and two genetic modifiersLou Jiwu, Sun Manna, Meixiang Lai, et al.
Molecular Genetics & Genomic Medicine|May 3, 2021
Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probandsYousuke Higuchi, Kosei Hasegawa, Natsuko Futagawa, et al.
Molecular Genetics & Genomic Medicine|May 5, 2021
Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practiceLingshan Gou, Feng Suo, Yi Wang, et al.
Molecular Genetics & Genomic Medicine|May 7, 2021
Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling ConundrumBeattie R H Sturrock, Ellen F Macnamara, Peter McGuire, et al.
Molecular Genetics & Genomic Medicine|May 20, 2021
The impact of CYP19A1 variants and haplotypes on breast cancer risk, clinicopathological features and prognosisAhmad Mohammed Alwan, Fahimeh Afzaljavan, Jalil Tavakol Afshari, et al.
Molecular Genetics & Genomic Medicine|May 13, 2021
Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disordersHannaleena Kokkonen, Auli Siren, Tuomo Määttä, et al.
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