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Volume 53; Issue 8
Main
Journal of Human Genetics
Volume 53; Issue 8
Journal of Human Genetics
Volume 53; Issue 8
1
Mutational analysis ofATP7Bgene in Egyptian children with Wilson disease: 12 novel mutations
Tawhida Y. Abdelghaffar
,
Solaf M. Elsayed
,
Ezzat Elsobky
,
Bettina Bochow
,
Janine Büttner
,
Hartmut Schmidt
Journal:
Journal of Human Genetics
Année:
2008
Langue:
english
Fichier:
PDF, 192 KB
Vos balises:
english, 2008
2
Does increased nuchal translucency indicate a fetal abnormality? A retrospective study to clarify the clinical significance of nuchal translucency in Japan
Shigo Yoshida
,
Kiyonori Miura
,
Kentaro Yamasaki
,
Shoko Miura
,
Takako Shimada
,
Terumi Tanigawa
,
Atsushi Yoshida
,
Daisuke Nakayama
,
Hideaki Masuzaki
Journal:
Journal of Human Genetics
Année:
2008
Langue:
english
Fichier:
PDF, 279 KB
Vos balises:
english, 2008
3
Association of genetic variations of genes encoding thrombospondin, type 1, domain-containing 4 and 7A with low bone mineral density in Japanese women with osteoporosis
Seijiro Mori
,
Ikuyo Kou
,
Hidenori Sato
,
Mitsuru Emi
,
Hideki Ito
,
Takayuki Hosoi
,
Shiro Ikegawa
Journal:
Journal of Human Genetics
Année:
2008
Langue:
english
Fichier:
PDF, 161 KB
Vos balises:
english, 2008
4
Reconstructing the origin of the Lapita Cultural Complex: mtDNA analyses of East Sepik Province, PNG
Miguel G. Vilar
,
Akira Kaneko
,
Francis W. Hombhanje
,
Takahiro Tsukahara
,
Ilomo Hwaihwanje
,
J. Koji Lum
Journal:
Journal of Human Genetics
Année:
2008
Langue:
english
Fichier:
PDF, 323 KB
Vos balises:
english, 2008
5
TheSCARB1gene is associated with lipid response to dietary and pharmacological interventions
Yongjun Liu
,
Jose M. Ordovas
,
Guimin Gao
,
Michael Province
,
Robert J. Straka
,
Michael Y. Tsai
,
Chao-Qiang Lai
,
Kui Zhang
,
Ingrid Borecki
,
James E. Hixson
,
David B. Allison
,
Donna K. Arnett
Journal:
Journal of Human Genetics
Année:
2008
Langue:
english
Fichier:
PDF, 239 KB
Vos balises:
english, 2008
6
Adiponectin geneADIPOQSNP associations with serum adiponectin in two female populations and effects of SNPs on promoter activity
Theodosios Kyriakou
,
Laura J. Collins
,
Nicola J. Spencer-Jones
,
Claire Malcolm
,
Xiaoling Wang
,
Harold Snieder
,
Ramasamyiyer Swaminathan
,
Keith A. Burling
,
Deborah J. Hart
,
Tim D. Spector
,
Sandra D. O’
Journal:
Journal of Human Genetics
Année:
2008
Langue:
english
Fichier:
PDF, 271 KB
Vos balises:
english, 2008
7
Association study of theC3gene with adult and childhood asthma
Hiroki Inoue
,
Yoichi Mashimo
,
Makiko Funamizu
,
Naoki Shimojo
,
Koichi Hasegawa
,
Tomomitsu Hirota
,
Satoru Doi
,
Makoto Kameda
,
Akihiko Miyatake
,
Yoichi Kohno
,
Yoshitaka Okamoto
,
Mayumi Tamari
,
Akira Hata
Journal:
Journal of Human Genetics
Année:
2008
Langue:
english
Fichier:
PDF, 299 KB
Vos balises:
english, 2008
8
A compound heterozygote of novel and recurrentDTDSTmutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
Atsushi Miyake
,
Gen Nishimura
,
Toru Futami
,
Hirofumi Ohashi
,
Kazuhiro Chiba
,
Yoshiaki Toyama
,
Tatsuya Furuichi
,
Shiro Ikegawa
Journal:
Journal of Human Genetics
Année:
2008
Langue:
english
Fichier:
PDF, 284 KB
Vos balises:
english, 2008
9
SCN1A,SCN1B, andGABRG2gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus
Huihui Sun
,
Yuehua Zhang
,
Jianmin Liang
,
Xiaoyan Liu
,
Xiuwei Ma
,
Husheng Wu
,
Keming Xu
,
Jiong Qin
,
Yu Qi
,
Xiru Wu
Journal:
Journal of Human Genetics
Année:
2008
Langue:
english
Fichier:
PDF, 301 KB
Vos balises:
english, 2008
10
Two-stage designs to identify the effects of SNP combinations on complex diseases
Guolian Kang
,
Weihua Yue
,
Jifeng Zhang
,
Marianne Huebner
,
Handi Zhang
,
Yan Ruan
,
Tianlan Lu
,
Yansu Ling
,
Yijun Zuo
,
Dai Zhang
Journal:
Journal of Human Genetics
Année:
2008
Langue:
english
Fichier:
PDF, 255 KB
Vos balises:
english, 2008
11
Grouping preprocess to accurately extend application of EM algorithm to haplotype inference
Hiroyuki Shindo
,
Hiroshi Chigira
,
Junji Tanaka
,
Naoyuki Kamatani
,
Masato Inoue
Journal:
Journal of Human Genetics
Année:
2008
Langue:
english
Fichier:
PDF, 679 KB
Vos balises:
english, 2008
12
Significant association ofABCG8:D19H gene polymorphism with hypercholesterolemia and insulin resistance
Zhih-Cherng Chen
,
Shyi-Jang Shin
,
Kung-Kai Kuo
,
Kun-Der Lin
,
Ming-Lung Yu
,
Pi-Jung Hsiao
Journal:
Journal of Human Genetics
Année:
2008
Langue:
english
Fichier:
PDF, 186 KB
Vos balises:
english, 2008
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