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Volume 52; Issue 11
Main
Journal of Human Genetics
Volume 52; Issue 11
Journal of Human Genetics
Volume 52; Issue 11
1
Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy: a meta-analysis
Elias Zintzaras
,
Katrin Uhlig
,
George N. Koukoulis
,
Afroditi A. Papathanasiou
,
Ioannis Stefanidis
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 256 KB
Your tags:
english, 2007
2
Structural and biochemical studies on Pompe disease and a “pseudodeficiency of acid α-glucosidase”
Youichi Tajima
,
Fumiko Matsuzawa
,
Sei-ichi Aikawa
,
Toshika Okumiya
,
Michiru Yoshimizu
,
Takahiro Tsukimura
,
Masahiko Ikekita
,
Seiichi Tsujino
,
Akihiko Tsuji
,
Tim Edmunds
,
Hitoshi Sakuraba
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 733 KB
Your tags:
english, 2007
3
U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites
Hideki Uchikawa
,
Katsunori Fujii
,
Yoichi Kohno
,
Noriyuki Katsumata
,
Kazuaki Nagao
,
Masao Yamada
,
Toshiyuki Miyashita
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 450 KB
Your tags:
english, 2007
4
Refinement of a locus for autosomal dominant hereditary motor and sensory neuropathy with proximal dominancy (HMSN-P) and genetic heterogeneity
Kouji Maeda
,
Ryuji Kaji
,
Katsuhito Yasuno
,
Jamiyansuren Jambaldorj
,
Hiroyuki Nodera
,
Hiroshi Takashima
,
Masanori Nakagawa
,
Satoshi Makino
,
Gen Tamiya
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 333 KB
Your tags:
english, 2007
5
Contribution of theBRCA1andBRCA2mutations to breast cancer in Tunisia
Wafa Troudi
,
N. Uhrhammer
,
C. Sibille
,
C. Dahan
,
W. Mahfoudh
,
C. Bouchlaka Souissi
,
T. Jalabert
,
L. Chouchane
,
Y. J. Bignon
,
F. Ben Ayed
,
A. Ben Ammar Elgaaied
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 196 KB
Your tags:
english, 2007
6
Suggestive evidence for chromosomal localization of non-coding RNA from imprintedLIT1
Kazuhiro Murakami
,
Mitsuo Oshimura
,
Hiroyuki Kugoh
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 303 KB
Your tags:
english, 2007
7
De novo polyalanine expansion ofPHOX2Bin congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis
Hiroko Arai
,
Tesshu Otagiri
,
Ayako Sasaki
,
Taeko Hashimoto
,
Kazuo Umetsu
,
Katsushi Tokunaga
,
Kiyoshi Hayasaka
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 266 KB
Your tags:
english, 2007
8
Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samples
Jin Choe
,
Jae-Ku Kang
,
Chang-Jun Bae
,
Dong-Suk Lee
,
Doyeong Hwang
,
Ki-Chul Kim
,
Woong-Yang Park
,
Jong-Ho Lee
,
Jeong-Sun Seo
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 457 KB
Your tags:
english, 2007
9
SNPs in disease gene mapping, medicinal drug development and evolution
Barkur S. Shastry
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 217 KB
Your tags:
english, 2007
10
Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: a meta-analysis
Elias Zintzaras
Journal:
Journal of Human Genetics
Year:
2007
Language:
english
File:
PDF, 281 KB
Your tags:
english, 2007
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