Friday, November 25, 2016

Journal of Human Genetics - Table of Contents alert Volume 61 Issue 11

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Journal of Human Genetics

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TABLE OF CONTENTS

Volume 61, Issue 11 (November 2016)

In this issue
Original Articles

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Original Articles

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A replication study of a candidate locus for follicle-stimulating hormone levels and association analysis for semen quality traits in Japanese men

Youichi Sato, Atsushi Tajima, Motoki Katsurayama, Shiari Nozawa, Miki Yoshiike, Eitetsue Koh, Jiro Kanaya, Mikio Namiki, Kiyomi Matsumiya, Akira Tsujimura, Kiyoshi Komatsu, Naoki Itoh, Jiro Eguchi, Issei Imoto, Aiko Yamauchi and Teruaki Iwamoto

J Hum Genet 2016 61: 911-915; advance online publication, June 30, 2016; 10.1038/jhg.2016.82

Abstract | Full Text

SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans OPEN

Jing Guan, Dayong Wang, Wenjian Cao, Yali Zhao, Renqian Du, Hu Yuan, Qiong Liu, Lan Lan, Liang Zong, Ju Yang, Zifang Yin, Bing Han, Feng Zhang and Qiuju Wang

J Hum Genet 2016 61: 917-922; advance online publication, July 7, 2016; 10.1038/jhg.2016.86

Abstract | Full Text

Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes

Ja Hye Kim, Beom Hee Lee, Ja Hyang Cho, Eungu Kang, Jin-Ho Choi, Gu-Hwan Kim and Han-Wook Yoo

J Hum Genet 2016 61: 923-929; advance online publication, June 23, 2016; 10.1038/jhg.2016.78

Abstract | Full Text

Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders

Yuri Kitamura, Eri Kondo, Mari Urano, Ryoko Aoki and Kayoko Saito

J Hum Genet 2016 61: 931-942; advance online publication, June 30, 2016; 10.1038/jhg.2016.79

Abstract | Full Text

PAX4 R192H and P321H polymorphisms in type 2 diabetes and their functional defects

Jatuporn Sujjitjoon, Suwattanee Kooptiwut, Nalinee Chongjaroen, Namoiy Semprasert, Wanthanee Hanchang, Kanjana Chanprasert, Watip Tangjittipokin, Pa-thai Yenchitsomanus and Nattachet Plengvidhya

J Hum Genet 2016 61: 943-949; advance online publication, June 23, 2016; 10.1038/jhg.2016.80

Abstract | Full Text

Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases

Srilekha Sundaramurthy, Meenakshi Swaminathan, Parveen Sen, Tharigopala Arokiasamy, Swati Deshpande, Neetha John, Rupali A Gadkari, Ashraf U Mannan and Nagasamy Soumittra

J Hum Genet 2016 61: 951-958; advance online publication, July 7, 2016; 10.1038/jhg.2016.83

Abstract | Full Text

HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families OPEN

Atsuko Imai, Masakazu Kohda, Akihiro Nakaya, Yasushi Sakata, Kei Murayama, Akira Ohtake, Mark Lathrop, Yasushi Okazaki and Jurg Ott

J Hum Genet 2016 61: 959-963; advance online publication, June 30, 2016; 10.1038/jhg.2016.85

Abstract | Full Text

Block-based association tests for rare variants using Kullback–Leibler divergence

Degang Zhu, Yue-Qing Hu and Shili Lin

J Hum Genet 2016 61: 965-975; advance online publication, July 14, 2016; 10.1038/jhg.2016.90

Abstract | Full Text

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