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Journal of Human Genetics|March 13, 2015
Older individuals heterozygous for a growth hormone-releasing hormone receptor gene mutation are shorter than normal subjectsManuel H Aguiar-Oliveira, Marco A Cardoso-Filho, Rossana M C Pereira, et al.Journal of Human Genetics|February 20, 2015
Systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17Kensaku Kasuga, Masataka Kikuchi, Takayoshi Tokutake, et al.Journal of Human Genetics|February 27, 2015
Constructive rescue of TFIIH instability by an alternative isoform of XPD derived from a mutated XPD allele in mild but not severe XP-D/CSKatsuyoshi Horibata, Sayaka Kono, Chie Ishigami, et al.Journal of Human Genetics|February 27, 2015
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal periodMylène Valduga, Christophe Philippe, Laetitia Lambert, et al.Journal of Human Genetics|May 15, 2023
Adjusting for population stratification in polygenic risk score analyses: a guide for model specifications in the UK BiobankBochao Danae Lin, Lotta-Katrin Pries, Jim van Os, et al.Journal of Human Genetics|July 24, 2020
Lethal mutations with fluctuating heterozygous effect: the lethal force of effective dominanceA D J Overall, D WaxmanJournal of Human Genetics|March 27, 2015
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblingsZejuan Li, Rhonda Schonberg, Lucia Guidugli, et al.Journal of Human Genetics|August 14, 2020
The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classificationLena-Luise Becker, Hormos Salimi Dafsari, Jens Schallner, et al.Journal of Human Genetics|July 6, 2020
RNA sequencing-based microRNA expression signature in esophageal squamous cell carcinoma: oncogenic targets by antitumor miR-143-5p and miR-143-3p regulationMasumi Wada, Yusuke Goto, Takako Tanaka, et al.Journal of Human Genetics|April 17, 2015
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencingKensaku Kohrogi, Eri Imagawa, Yuichiro Muto, et al.Pageof 351