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Molecular Genetics & Genomic Medicine|November 8, 2023
Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended familySalma A S Abosabie, Sara A Abosabie, Jaber Alfaifi, et al.
Molecular Genetics & Genomic Medicine|November 9, 2023
The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcomaLan Zeng, Jin Wang, Hui Zhu, et al.
Molecular Genetics & Genomic Medicine|September 15, 2023
Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literatureYaoyao Wang, Lina Wang, Xiaoying Chen, et al.
Molecular Genetics & Genomic Medicine|August 29, 2023
A somatic splice-site variant in PIK3R1 in a patient with vascular overgrowth and low immunoglobulin levels: A case reportMatheus V M B Wilke, Lisa Schimmenti, Madeline Q R Lopour, et al.
Molecular Genetics & Genomic Medicine|August 7, 2023
Mutation spectrum of retinoblastoma patients in VietnamDao Nguyen Ha Linh, Nguyen Van Huy, Phuoc-Dung Nguyen, et al.
Molecular Genetics & Genomic Medicine|August 24, 2023
A new line method; A direct test in spinal muscular atrophy screening for DBSAyhan Kubar, Sehime Gülsüm Temel, Serdar Beken, et al.
Molecular Genetics & Genomic Medicine|August 18, 2023
Genomic testing in voluntary workplace wellness programs in the US: Evidence and challengesBetty Cohn, Kerry A Ryan, Katherine Hendy, et al.
Molecular Genetics & Genomic Medicine|October 21, 2023
A novel pathogenic variant located just upstream of the C-terminal Ser423-X-Ser425 phosphorylation motif in SMAD3 causing Loeys-Dietz syndromeSatoshi Ishii, Takayuki Fujiwara, Hiroki Yagi, et al.
Molecular Genetics & Genomic Medicine|October 16, 2023
Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetranceJie Wang, Chaoyue Zhao, Xin Zhang, et al.
Molecular Genetics & Genomic Medicine|October 13, 2023
Comprehensive application of multiple molecular diagnostic techniques in pre-implantation genetic testing for monogenicPeng Huang, Yueyun Lan, Hong Zhou, et al.
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