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Journal of Human Genetics|December 7, 2018
The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disabilityFátima Gimeno-Ferrer, David Albuquerque, Carola Guzmán Luján, et al.Journal of Human Genetics|December 13, 2019
Identification of novel FBN1 variations implicated in congenital scoliosisMao Lin, Sen Zhao, Gang Liu, et al.Journal of Human Genetics|January 28, 2020
Knowledge and attitudes on pharmacogenetics among pediatriciansShahad Rahawi, Hetanshi Naik, Kathryn V Blake, et al.Journal of Human Genetics|April 5, 2020
The Fabry disease-causing mutation, GLA IVS4+919G>A, originated in Mainland China more than 800 years agoKung-Hao Liang, Yung-Hsiu Lu, Chih-Wei Niu, et al.Journal of Human Genetics|January 25, 2019
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophyDhanya Lakshmi Narayanan, Divya Matta, Neerja Gupta, et al.Journal of Human Genetics|December 1, 2018
Gene therapy for lysosomal storage diseases and peroxisomal diseasesToya OhashiJournal of Human Genetics|December 1, 2018
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significanceKhurram Liaqat, Isabelle Schrauwen, Syed Irfan Raza, et al.Journal of Human Genetics|February 14, 2019
Correction: Attitudes toward genomic tumor profiling tests in Japan: patients, family members, and the publicAkiko Nagai, Izen Ri, Kaori MutoJournal of Human Genetics|September 2, 2005
Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G>A) is the most common variant in the Cambodian populationHiroyuki Matsuoka, Chea Nguon, Toshio Kanbe, et al.Journal of Human Genetics|September 6, 2005
The Glu23Lys polymorphism in KCNJ11 and impaired hypoglycaemia awareness in patients with type 1 diabetesAndreas Holstein, Armin Plaschke, Michael Stumvoll, et al.Pageof 351