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Molecular Genetics & Genomic Medicine|January 10, 2018
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectivenessElizabeth E Palmer, Deborah Schofield, Rupendra Shrestha, et al.
Molecular Genetics & Genomic Medicine|May 19, 2022
Controversial molecular functions of CBS versus non-CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature reviewXue Gong, Peiyu Yu, Ting Wu, et al.
Molecular Genetics & Genomic Medicine|May 24, 2022
Germline mutations in Chinese ovarian cancer with or without breast cancerAva Kwong, Cecilia Yuen Sze Ho, Vivian Yvonne Shin, et al.
Molecular Genetics & Genomic Medicine|May 25, 2022
Rare variant of TBL1XR1 in West syndrome: A case reportYajun Shen, Meng Yuan, Huan Luo, et al.
Molecular Genetics & Genomic Medicine|May 25, 2022
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delayAbeer Al Tuwaijri, Yusra Alyafee, Mashael Alharbi, et al.
Molecular Genetics & Genomic Medicine|May 26, 2022
Molecular heterogeneity of β-thalassemia variants in the Eastern region of MoroccoIhab Belmokhtar, Saida Lhousni, Mounia Elidrissi Errahhali, et al.
Molecular Genetics & Genomic Medicine|May 27, 2022
The significance of the fusion partner gene genomic neighborhood analysis in translocation-defined tumorsElaheh Mosaieby, Petr Martínek, Ondrej Ondič
Molecular Genetics & Genomic Medicine|July 23, 2021
Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmissionNina Pan, Songchang Chen, Xiaoqiang Cai, et al.
Molecular Genetics & Genomic Medicine|July 24, 2021
The association between sarcopenia susceptibility and polymorphisms of FTO, ACVR2B, and IRS1 in TibetansXianpeng Zhang, Liping Ye, Xin Li, et al.
Molecular Genetics & Genomic Medicine|July 26, 2021
Family based and case-control designs reveal an association of TFAP2A in nonsyndromic cleft lip only among Vietnamese populationDuc Minh Nguyen, Satoshi Suzuki, Hideto Imura, et al.
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