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dinsdag 25 september 2018

Journal of Human Genetics - Table of Contents alert Volume 63 Issue 10

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Journal of Human Genetics
 
TABLE OF CONTENTS

Volume 63, Issue 10

In this issue
Article
Brief Communication
Correction
Also new
AOP
 

Article

Dual strands of the miR-145 duplex (miR-145-5p and miR-145-3p) regulate oncogenes in lung adenocarcinoma pathogenesis

Shunsuke Misono, Naohiko Seki, Keiko Mizuno, Yasutaka Yamada, Akifumi Uchida et al.

Journal of Human Genetics 2018 63 :1015 - 1028; August 06, 2018; 10.1038/s10038-018-0497-9

 

Abstract | Full Text

A genealogical assessment of familial clustering of anorectal malformations

Craig C. Teerlink, Ryan Bernhisel, Lisa A. Cannon-Albright & Michael D. Rollins

Journal of Human Genetics 2018 63 :1029 - 1034; July 06, 2018; 10.1038/s10038-018-0487-y

 

Abstract | Full Text

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 Japan

Takahiro Yamada, Akihiko Sekizawa, Yosuke Fujii, Tatsuko Hirose, Osamu Samura et al.

Journal of Human Genetics 2018 63 :1035 - 1040; May 30, 2018; 10.1038/s10038-018-0453-8

 

Abstract | Full Text

Genotype–phenotype correlation in Becker muscular dystrophy in Chinese patients

Ruiyi Yuan, Junfei Yi, Zhiying Xie, Yimeng Zheng, Miao Han et al.

Journal of Human Genetics 2018 63 :1041 - 1048; July 05, 2018; 10.1038/s10038-018-0480-5

 

Abstract | Full Text

A novel SLC9A1 mutation causes cerebellar ataxia

Kazuhiro Iwama, Hitoshi Osaka, Takahiro Ikeda, Satomi Mitsuhashi, Satoko Miyatake et al.

Journal of Human Genetics 2018 63 :1049 - 1054; July 17, 2018; 10.1038/s10038-018-0488-x

 

Abstract | Full Text

Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population

Lulin Huang, Xiongze Zhang, Pancy O S Tam, Haoyu Chen, Fang Hao et al.

Journal of Human Genetics 2018 63 :1055 - 1070; July 19, 2018; 10.1038/s10038-018-0490-3

 

Abstract | Full Text

Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family

Teka Khan, Manan Khan, Ayesha Yousaf, Saadullah Khan, Muhammad Naeem et al.

Journal of Human Genetics 2018 63 :1071 - 1076; July 23, 2018; 10.1038/s10038-018-0491-2

 

Abstract | Full Text

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

Hager Jaouadi, Lilia Kraoua, Lilia Chaker, Alexandre Atkinson, ValĂ©rie Delague et al.

Journal of Human Genetics 2018 63 :1077 - 1082; July 25, 2018; 10.1038/s10038-018-0492-1

 

Abstract | Full Text

Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration

Masato Akiyama, Atsushi Takahashi, Yukihide Momozawa, Satoshi Arakawa, Fuyuki Miya et al.

Journal of Human Genetics 2018 63 :1083 - 1091; July 27, 2018; 10.1038/s10038-018-0493-0

 

Abstract | Full Text

Brief Communication

Periodic breathing in patients with NALCN mutations

Danielle K. Bourque, David A. Dyment, Ian MacLusky, Kristin D. Kernohan & Hugh J. McMillan

Journal of Human Genetics 2018 63 :1093 - 1096; July 03, 2018; 10.1038/s10038-018-0484-1

 

Abstract | Full Text

Correction

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 Japan

Takahiro Yamada, Akihiko Sekizawa, Yosuke Fujii, Tatsuko Hirose, Osamu Samura et al.

Journal of Human Genetics 2018 63 :1097 - 1098; August 01, 2018; 10.1038/s10038-018-0486-z

 

Abstract | Full Text

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