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Journal of Human Genetics|July 24, 2018
Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani familyTeka Khan, Manan Khan, Ayesha Yousaf, et al.Journal of Human Genetics|July 27, 2018
Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal featuresHager Jaouadi, Lilia Kraoua, Lilia Chaker, et al.Journal of Human Genetics|October 17, 2009
Thalamic transcriptome screening in three psychiatric statesTearina T Chu, Yuexun Liu, Eileen KemetherJournal of Human Genetics|December 21, 2005
Androgen receptor CAG and GGC polymorphisms in Mediterraneans: repeat dynamics and population relationshipsEsther Esteban, Natalia Rodon, Marc Via, et al.Journal of Human Genetics|December 24, 2005
Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry miceHitoshi Sakuraba, Mai Murata-Ohsawa, Ikuo Kawashima, et al.Journal of Human Genetics|December 24, 2005
Quantitative trait loci in ABCA1 modify cerebrospinal fluid amyloid-beta 1-42 and plasma apolipoprotein levelsHagit Katzov, Anna M Bennet, Kina Höglund, et al.Journal of Human Genetics|December 24, 2005
A novel Wiskott-Aldrich syndrome protein (WASP) complex mutation identified in a WAS patient results in an aberrant product at the C-terminus from two transcripts with unusual polyA signalsNuria Andreu, Maricruz García-Rodríguez, Victor Volpini, et al.Journal of Human Genetics|September 5, 2018
Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairmentKhurram Liaqat, Ilene Chiu, Kwanghyuk Lee, et al.Journal of Human Genetics|August 3, 2018
Correction: Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in JapanTakahiro Yamada, Akihiko Sekizawa, Yosuke Fujii, et al.Journal of Human Genetics|February 20, 2010
Relationship between growth hormone 1 genetic polymorphism and susceptibility to colorectal cancerChang-Ming Gao, Jian-Ping Gong, Jian-Zhong Wu, et al.Pageof 351