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Molecular Genetics & Genomic Medicine|April 25, 2020
Patient perspectives on variant reclassification after cancer susceptibility testingColin M E Halverson, Laurie M Connors, Bronson C Wessinger, et al.Molecular Genetics & Genomic Medicine|April 28, 2020
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromesAleksandra Jezela-Stanek, Elżbieta Ciara, Dorota Jurkiewicz, et al.Molecular Genetics & Genomic Medicine|April 28, 2020
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testingIvana Jedličková, Anna Přistoupilová, Lenka Nosková, et al.Molecular Genetics & Genomic Medicine|September 12, 2021
Allelic and genotypic frequencies of NAT2, CYP2E1, and AADAC genes in a cohort of Peruvian tuberculosis patientsKelly S Levano, Luis Jaramillo-Valverde, David D Tarazona, et al.Molecular Genetics & Genomic Medicine|May 12, 2021
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8Sheng Yi, Yue Zhang, Zailong Qin, et al.Molecular Genetics & Genomic Medicine|May 13, 2021
Epimutation of MMACHC compound to a genetic mutation in cblC casesXiaoman Zhang, Qiong Chen, Yinsen Song, et al.Molecular Genetics & Genomic Medicine|June 2, 2020
HSPA1A gene polymorphism rs1008438 is associated with susceptibility to acute mountain sickness in Han Chinese individualsZhicheng Liu, Hong Chen, Ting Xu, et al.Molecular Genetics & Genomic Medicine|May 20, 2021
The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndromeChen Cheng, Sheng Zhao, Xia Zhu, et al.Molecular Genetics & Genomic Medicine|August 9, 2021
Functional characterization of CDK10 and cyclin M truncated variants causing severe developmental disordersThomas Robert, Anne-Catherine Dock-Bregeon, Pierre ColasMolecular Genetics & Genomic Medicine|April 1, 2017
Genetic contributions to stuttering: the current evidenceCarlos Frigerio-Domingues, Dennis DraynaPageof 252