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Volume 57; Issue 5
Main
Journal of Human Genetics
Volume 57; Issue 5
Journal of Human Genetics
Volume 57; Issue 5
1
Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients
Phusantisampan, Theerawut
,
Sangkhathat, Surasak
,
Phongdara, Amornrat
,
Chiengkriwate, Piyawan
,
Patrapinyokul, Sakda
,
Mahasirimongkol, Surakameth
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 456 KB
Your tags:
english, 2012
2
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
Ono, Shinji
,
Yoshiura, Koh-ichiro
,
Kinoshita, Akira
,
Kikuchi, Taeko
,
Nakane, Yoshibumi
,
Kato, Nobumasa
,
Sadamatsu, Miyuki
,
Konishi, Tohru
,
Nagamitsu, Shinichiro
,
Matsuura, Masato
,
Yasuda, Ayako
,
Komin
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 316 KB
Your tags:
english, 2012
3
Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography
Hotta, Kikuko
,
Kitamoto, Aya
,
Kitamoto, Takuya
,
Mizusawa, Seiho
,
Teranishi, Hajime
,
So, Rina
,
Matsuo, Tomoaki
,
Nakata, Yoshio
,
Hyogo, Hideyuki
,
Ochi, Hidenori
,
Nakamura, Takahiro
,
Kamohara, Seika
,
Miy
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 276 KB
Your tags:
english, 2012
4
Genetic variants on chromosome 6p21.1 and 6p22.3 are associated with type 2 diabetes risk: a case–control study in Han Chinese
Lu, Feng
,
Qian, Yun
,
Li, Huizhang
,
Dong, Meihua
,
Lin, Yudi
,
Du, Jiangbo
,
Lin, Yuan
,
Chen, Jian
,
Shen, Chong
,
Jin, Guangfu
,
Dai, Juncheng
,
Hu, Zhibin
,
Shen, Hongbing
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 375 KB
Your tags:
english, 2012
5
Novel TARDBP mutations in Nordic ALS patients
Chiang, Huei-Hsin
,
Andersen, Peter M
,
Tysnes, Ole-Bjørn
,
Gredal, Ole
,
Christensen, Peter B
,
Graff, Caroline
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 379 KB
Your tags:
english, 2012
6
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements
Fortugno, Paola
,
Grosso, Fabiana
,
Zambruno, Giovanna
,
Pastore, Serena
,
Faletra, Flavio
,
Castiglia, Daniele
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 314 KB
Your tags:
english, 2012
7
Genetic differences in the two main groups of the Japanese population based on autosomal SNPs and haplotypes
Yamaguchi-Kabata, Yumi
,
Tsunoda, Tatsuhiko
,
Kumasaka, Natsuhiko
,
Takahashi, Atsushi
,
Hosono, Naoya
,
Kubo, Michiaki
,
Nakamura, Yusuke
,
Kamatani, Naoyuki
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 912 KB
Your tags:
english, 2012
8
A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis
Jongjaroenprasert, Wallaya
,
Phusantisampan, Theerawut
,
Mahasirimongkol, Surakameth
,
Mushiroda, Taisei
,
Hirankarn, Nattiya
,
Snabboon, Thiti
,
Chanprasertyotin, Suwannee
,
Tantiwong, Puntip
,
Soonthornpun,
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 363 KB
Your tags:
english, 2012
9
Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?
Singh, Shweta
,
Ganesh, Subramaniam
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 163 KB
Your tags:
english, 2012
10
A unique demographic history exists for the MAO-A gene in Polynesians
Eccles, David A
,
Macartney-Coxson, Donia
,
Chambers, Geoffrey K
,
Lea, Rodney A
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 428 KB
Your tags:
english, 2012
11
Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome
Meguro, Toru
,
Yoshida, Yuki
,
Hayashi, Makiko
,
Toyota, Kentaro
,
Otagiri, Tesshu
,
Mochizuki, Narutaka
,
Kishikawa, Yumiko
,
Sasaki, Ayako
,
Hayasaka, Kiyoshi
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 299 KB
Your tags:
english, 2012
12
Investigation of modifier genes within copy number variations in Rett syndrome
Artuso, Rosangela
,
Papa, Filomena T
,
Grillo, Elisa
,
Mucciolo, Mafalda
,
Yasui, Dag H
,
Dunaway, Keith W
,
Disciglio, Vittoria
,
Mencarelli, Maria A
,
Pollazzon, Marzia
,
Zappella, Michele
,
Hayek, Giuseppe
,
Journal:
Journal of Human Genetics
Year:
2012
Language:
english
File:
PDF, 121 KB
Your tags:
english, 2012
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