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Molecular Genetics & Genomic Medicine|June 1, 2018
Pharmacogenomics: From classroom to practiceSamantha C Nutter, Marina Gálvez-Peralta
Molecular Genetics & Genomic Medicine|June 23, 2018
Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasiaLudmila Pawlikowska, Jeffrey Nelson, Diana E Guo, et al.
Molecular Genetics & Genomic Medicine|August 15, 2020
Interaction between a haptoglobin genetic variant and coronary artery disease (CAD) risk factors on CAD severity in Singaporean Chinese populationXuling Chang, Rajkumar Dorajoo, Yi Han, et al.
Molecular Genetics & Genomic Medicine|August 15, 2020
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomesChieh-Wen Kuo, Wuh-Liang Hwu, Yin-Hsiu Chien, et al.
Molecular Genetics & Genomic Medicine|July 18, 2020
Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case reportZhou Xia, Yin Wenwen, Yu Xianfeng, et al.
Molecular Genetics & Genomic Medicine|July 18, 2020
Evaluation of a six-dye multiplex composed of 27 markers for forensic analysis and databasingShuangshuang Wang, Feng Song, Mingkun Xie, et al.
Molecular Genetics & Genomic Medicine|July 18, 2020
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from PakistanSajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, et al.
Molecular Genetics & Genomic Medicine|July 23, 2020
A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian familyAfrooz Sepahvand, Ehsan Razmara, Fatemeh Bitarafan, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
Functional and structural impact of the most prevalent missense mutations in classic galactosemiaAna I Coelho, Matilde Trabuco, Ruben Ramos, et al.
Molecular Genetics & Genomic Medicine|January 24, 2015
Ten new ATM alterations in Polish patients with ataxia-telangiectasiaMarta Joanna Podralska, Agnieszka Stembalska, Ryszard Ślęzak, et al.
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