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Molecular Genetics & Genomic Medicine|November 13, 2019
Spinal neurofibromatosis with NF1 mutation in a classic neurofibromatosis type 1 family: A case report and literature reviewZeqian Ning, Zhiqian Yang, Gaofei Chen, et al.
Molecular Genetics & Genomic Medicine|November 28, 2019
Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1Mao Lin, Zhenlei Liu, Gang Liu, et al.
Molecular Genetics & Genomic Medicine|November 7, 2019
Identification of a novel heterozygous missense mutation of SEMA3E (c.1327G>A; p. Ala443Thr) in a labor induced fetus with CHARGE syndromeXiao Song, Xueyan Wang, Li Ding, et al.
Molecular Genetics & Genomic Medicine|January 12, 2019
Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotationKarin Salehi Karlslätt, Maria Pettersson, Nina Jäntti, et al.
Molecular Genetics & Genomic Medicine|November 15, 2019
Investigation of the STOX1 polymorphism on lumbar disc herniationXuejun Yang, Feng Li, Daqi Xin, et al.
Molecular Genetics & Genomic Medicine|November 15, 2019
From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencingJana Lisa van Luttikhuizen, Janin Bublitz, Stephanie Schubert, et al.
Molecular Genetics & Genomic Medicine|November 15, 2019
Inhibitory effect of alpinetin on IL-6 expression by promoting cytosine methylation in CpG islands in the IL-6 promoter regionKe Hu, Yuxian Li, Minghua Liang, et al.
Molecular Genetics & Genomic Medicine|November 16, 2019
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplicationsLynnea Myers, Moira Blyth, Kamran Moradkhani, et al.
Molecular Genetics & Genomic Medicine|July 9, 2021
Pathogenic gene variation spectrum and carrier screening for Wilson's disease in Qingdao areaLingyan Qiao, Juan Ge, Cheng Li, et al.
Molecular Genetics & Genomic Medicine|July 21, 2021
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease processFrederik Braun, Andrea Gangfuß, Petra Stöbe, et al.
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