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Molecular Genetics & Genomic Medicine|September 29, 2021
Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patientsLei Wang, Pengfei Liu, Weimin Bi, et al.
Molecular Genetics & Genomic Medicine|October 8, 2021
Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacyHui Chen, Shaukat Khan, Betul Celik, et al.
Molecular Genetics & Genomic Medicine|October 19, 2019
The expression of human leukocyte antigen by human ejaculated spermatozoaNasrin Sereshki, Alireza Andalib, Ataollah Ghahiri, et al.
Molecular Genetics & Genomic Medicine|March 11, 2022
De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literatureQin Wang, Jianming Zhang, Nan Jiang, et al.
Molecular Genetics & Genomic Medicine|March 14, 2022
Expanding the clinical spectrum of autosomal-recessive renal tubular dysgenesis: Two siblings with neonatal survival and review of the literatureKrista M Vincent, Afrah Alrajhi, Joanna Lazier, et al.
Molecular Genetics & Genomic Medicine|March 25, 2022
Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutationZhao Zhang, Yu Lu, Jing-Yuan Cao, et al.
Molecular Genetics & Genomic Medicine|March 25, 2022
Population-based screening of Uruguayan Ashkenazi Jews for recurrent BRCA1 and BRCA2 pathogenic sequence variantsCecilia Castillo, Nora Artagaveytia, Lucia Brignoni, et al.
Molecular Genetics & Genomic Medicine|March 29, 2022
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosisIlaria Persico, Agnese Feresin, Michela Faleschini, et al.
Molecular Genetics & Genomic Medicine|September 22, 2021
Polymorphisms in NQO1 and MPO genes and risk for bladder cancer in Tunisian populationImen Hemissi, Haroun Ayed, Zeineb Naimi, et al.
Molecular Genetics & Genomic Medicine|May 30, 2019
Assessment of the association between ACYP2 and laryngeal squamous cell carcinoma risk in Chinese malesWenhui Zhao, Fanglin Niu, Zhilan Xie, et al.
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