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Volume 49; Issue 6
Main
Journal of Human Genetics
Volume 49; Issue 6
Journal of Human Genetics
Volume 49; Issue 6
1
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt theA2BP1gene
Kavita Bhalla
,
Hilary A. Phillips
,
Joanna Crawford
,
Olivia L. D. McKenzie
,
John C. Mulley
,
Helen Eyre
,
Alison E. Gardner
,
Gabriel Kremmidiotis
,
David F. Callen
Journal:
Journal of Human Genetics
Year:
2004
Language:
english
File:
PDF, 1.48 MB
Your tags:
english, 2004
2
Up-regulation of transcriptional factor E2F1 in papillary and anaplastic thyroid cancers
Masamitsu Onda
,
Hisaki Nagai
,
Akira Yoshida
,
Shizuyo Miyamoto
,
Shin-ichi Asaka
,
Junko Akaishi
,
Keisuke Takatsu
,
Mitsuji Nagahama
,
Kouichi Ito
,
Kazuo Shimizu
,
Mitsuru Emi
Journal:
Journal of Human Genetics
Year:
2004
Language:
english
File:
PDF, 398 KB
Your tags:
english, 2004
3
Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France)
Marc De Braekeleer
,
Gilles Rault
,
Gil Bellis
Journal:
Journal of Human Genetics
Year:
2004
Language:
english
File:
PDF, 226 KB
Your tags:
english, 2004
4
Amplification, up-regulation and over-expression of C3G (CRK SH3 domain-binding guanine nucleotide-releasing factor) in non-small cell lung cancers
Tomomi Hirata
,
Hisaki Nagai
,
Kiyoshi Koizumi
,
Keiko Okino
,
Akima Harada
,
Masamitsu Onda
,
Takemitsu Nagahata
,
Iwao Mikami
,
Kyoji Hirai
,
Syuji Haraguchi
,
Enjing Jin
,
Oichi Kawanami
,
Kazuo Shimizu
,
Mitsu
Journal:
Journal of Human Genetics
Year:
2004
Language:
english
File:
PDF, 367 KB
Your tags:
english, 2004
5
D919G polymorphism of methionine synthase gene is associated with blood pressure response to benazepril in Chinese hypertensive patients
Yan Zhang
,
Minmin Zhang
,
Tianhua Niu
,
Xin Xu
,
Guoying Zhu
,
Yong Huo
,
Changzhong Chen
,
Xiaobin Wang
,
Houxun Xing
,
Shaojie Peng
,
Aiqun Huang
,
Xiumei Hong
,
Xiping Xu
Journal:
Journal of Human Genetics
Year:
2004
Language:
english
File:
PDF, 207 KB
Your tags:
english, 2004
6
Polymorphisms of the prion protein gene (PRNP) in a Korean population
Byung-Hoon Jeong
,
Jae-Hwan Nam
,
Yun-Jung Lee
,
Kyung-Hee Lee
,
Myoung-Kuk Jang
,
Richard I. Carp
,
Ho-Dong Lee
,
Young-Ran Ju
,
Sangmee Ahn Jo
,
Keun-Yong Park
,
Yong-Sun Kim
Journal:
Journal of Human Genetics
Year:
2004
Language:
english
File:
PDF, 2.21 MB
Your tags:
english, 2004
7
Functional impairment of two novel mutations detected in lipoprotein-associated phospholipase A2 (Lp-PLA2) deficiency patients
Mitsuaki Ishihara
,
Tadao Iwasaki
,
Makoto Nagano
,
Jun Ishii
,
Mayumi Takano
,
Takeshi Kujiraoka
,
Masahiro Tsuji
,
Hiroaki Hattori
,
Mitsuru Emi
Journal:
Journal of Human Genetics
Year:
2004
Language:
english
File:
PDF, 266 KB
Your tags:
english, 2004
8
Heterozygosities and allelic frequencies of 811 dinucleotide-repeat marker loci in the Taiwanese population
Cheng-Hsin Lu
,
Cherry Guan-Ju Lin
,
Lichih Huang
,
Ling-Mei Wang
,
Lawrence Shih-Hsin Wu
Journal:
Journal of Human Genetics
Year:
2004
Language:
english
File:
PDF, 173 KB
Your tags:
english, 2004
9
Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM
Nobuhiko Okamoto
,
Rolando Del Maestro
,
Rebeca Valero
,
Eugenia Monros
,
Pilar Poo
,
Yonehiro Kanemura
,
Mami Yamasaki
Journal:
Journal of Human Genetics
Year:
2004
Language:
english
File:
PDF, 131 KB
Your tags:
english, 2004
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