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Volume 52; Issue 6
Main
Journal of Human Genetics
Volume 52; Issue 6
Journal of Human Genetics
Volume 52; Issue 6
1
Mutation identification and characterization of a Taiwanese patient with fucosidosis
Shuan-Pei Lin
,
Jui-Hung Chang
,
Maria Paez de la Cadena
,
Ting-Fang Chang
,
Guey-Jen Lee-Chen
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 172 KB
Your tags:
english, 2007
2
A novelDFNA5mutation does not cause hearing loss in an Iranian family
Lut Van Laer
,
Nicole C. Meyer
,
Mahdi Malekpour
,
Yasser Riazalhosseini
,
Mahdi Moghannibashi
,
Kimia Kahrizi
,
Ann Vandevelde
,
Fatemeh Alasti
,
Hossein Najmabadi
,
Guy Van Camp
,
Richard J. H. Smith
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 223 KB
Your tags:
english, 2007
3
An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma
Lucia Anna Muscarella
,
Raffaela Barbano
,
Bartolomeo Augello
,
Vincenza Formica
,
Lucia Micale
,
Leopoldo Zelante
,
Leonardo D’Agruma
,
Giuseppe Merla
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 229 KB
Your tags:
english, 2007
4
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a uniqueSLC26A4mutation spectrum
Hao Hu
,
Lingqian Wu
,
Yong Feng
,
Qian Pan
,
Zhigao Long
,
Juan Li
,
Heping Dai
,
Kun Xia
,
Desheng Liang
,
Norio Niikawa
,
Jiahui Xia
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 160 KB
Your tags:
english, 2007
5
Genetic determination in onset age of wrist fracture
Donghai Xiong
,
Wei Wang
,
Yuan Chen
,
Hui Jiang
,
Hong-Wen Deng
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 153 KB
Your tags:
english, 2007
6
Gap junction coding genes and schizophrenia: a genetic association study
Branko Aleksic
,
Ryoko Ishihara
,
Nagahide Takahashi
,
Nobuhisa Maeno
,
Xiaofei Ji
,
Shinichi Saito
,
Toshiya Inada
,
Norio Ozaki
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 155 KB
Your tags:
english, 2007
7
Association ofKITgene polymorphisms with bone mineral density in postmenopausal Korean women
Shin-Yoon Kim
,
Jong-Young Lee
,
Ha Young Kim
,
Bermseok Oh
,
Kuchan Kimm
,
Hyung-Lae Kim
,
Byung Lae Park
,
Hyoung Doo Shin
,
Eui Kyun Park
,
Jung-Min Koh
,
Ghi Su Kim
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 233 KB
Your tags:
english, 2007
8
Mutations in theWFS1gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese
Hisakuni Fukuoka
,
Yukihiko Kanda
,
Shuji Ohta
,
Shin-ichi Usami
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 187 KB
Your tags:
english, 2007
9
Failure to confirm association betweenPDCD1polymorphisms and rheumatoid arthritis in a Japanese population
Takuji Iwamoto
,
Katsunori Ikari
,
Eisuke Inoue
,
Yoshiaki Toyama
,
Masako Hara
,
Hisashi Yamanaka
,
Taisuke Tomatsu
,
Shigeki Momohara
,
Naoyuki Kamatani
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 148 KB
Your tags:
english, 2007
10
Further evidence of genetic heterogeneity in Costello syndrome: involvement of theKRASgene
Débora Romeo Bertola
,
Alexandre Costa Pereira
,
Amanda Salem Brasil
,
Lilian Maria José Albano
,
Chong Ae Kim
,
José Eduardo Krieger
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 261 KB
Your tags:
english, 2007
11
The 894G>T variant in the endothelial nitric oxide synthase gene and spina bifida risk
Ivon J. M. van der Linden
,
Sandra G. Heil
,
Martin den Heijer
,
Henk J. Blom
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 146 KB
Your tags:
english, 2007
12
Polymorphisms of glutathione S-transferase M1, T1 and P1 in patients with reflux esophagitis and Barrett’s esophagus
Zdenek Kala
,
Jiří Dolina
,
Filip Marek
,
Lydie Izakovicova Holla
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 177 KB
Your tags:
english, 2007
13
Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy
Yoshihisa Matsushita
,
Toru Furukawa
,
Hiroshi Kasanuki
,
Makoto Nishibatake
,
Yachiyo Kurihara
,
Atsushi Ikeda
,
Naoyuki Kamatani
,
Hiroshi Takeshima
,
Rumiko Matsuoka
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 321 KB
Your tags:
english, 2007
14
A syndactyly type IV locus maps to 7q36
Daisuke Sato
,
Desheng Liang
,
Lingqian Wu
,
Qian Pan
,
Kun Xia
,
Heping Dai
,
Hua Wang
,
Gen Nishimura
,
Koh-Ichiro Yoshiura
,
Jiahui Xia
,
Norio Niikawa
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 190 KB
Your tags:
english, 2007
15
Retinoblastoma and mental retardation microdeletion syndrome: clinical characterization and molecular dissection using array CGH
R. Caselli
,
C. Speciale
,
C. Pescucci
,
V. Uliana
,
K. Sampieri
,
M. Bruttini
,
I. Longo
,
S. De Francesco
,
T. Pramparo
,
O. Zuffardi
,
R. Frezzotti
,
A. Acquaviva
,
T. Hadjistilianou
,
A. Renieri
,
F. Mari
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 339 KB
Your tags:
english, 2007
16
Identification of a novelGPR143mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation
Jing Yu Liu
,
Xiang Ren
,
Xiufeng Yang
,
Tangying Guo
,
Qi Yao
,
Lin Li
,
Xiaohua Dai
,
Mingchang Zhang
,
Lejin Wang
,
Mugen Liu
,
Qing K. Wang
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 321 KB
Your tags:
english, 2007
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