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Volume 53; Issue 6
Main
Journal of Human Genetics
Volume 53; Issue 6
Journal of Human Genetics
Volume 53; Issue 6
1
Novel synonymous substitution inPOMGNT1promotes exon skipping in a patient with congenital muscular dystrophy
Jorge Oliveira
,
Isabel Soares-Silva
,
Ivo Fokkema
,
Ana Gonçalves
,
Alexandra Cabral
,
Luísa Diogo
,
Lucía Galán
,
António Guimarães
,
Isabel Fineza
,
Johan T. den Dunnen
,
Rosário Santos
Journal:
Journal of Human Genetics
Year:
2008
Language:
english
File:
PDF, 376 KB
Your tags:
english, 2008
2
Polymorphisms of tumor necrosis factor-alpha are associated with increased susceptibility to gastric cancer: a meta-analysis
Jiyuan Zhang
,
Chao Dou
,
Yuting Song
,
Chaoneng Ji
,
Shaohua Gu
,
Yi Xie
,
Yumin Mao
Journal:
Journal of Human Genetics
Year:
2008
Language:
english
File:
PDF, 364 KB
Your tags:
english, 2008
3
Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant
Ulrike Hennewig
,
Berit Hadzik
,
Markus Vogel
,
Thomas Meissner
,
Timm Goecke
,
Hartmut Peters
,
Georg Selzer
,
Ertan Mayatepek
,
Thomas Hoehn
Journal:
Journal of Human Genetics
Year:
2008
Language:
english
File:
PDF, 224 KB
Your tags:
english, 2008
4
Analysis ofGADD45Asequence variations in French Canadian families with high risk of breast cancer
Sylvie Desjardins
,
Geneviève Ouellette
,
Yvan Labrie
,
Jacques Simard
,
INHERIT BRCAs
,
Francine Durocher
Journal:
Journal of Human Genetics
Year:
2008
Language:
english
File:
PDF, 263 KB
Your tags:
english, 2008
5
The role ofMTHFRgene in multiple myeloma
Elias Zintzaras
,
Stavroula Giannouli
,
Paraskevi Rodopoulou
,
Michael Voulgarelis
Journal:
Journal of Human Genetics
Year:
2008
Language:
english
File:
PDF, 252 KB
Your tags:
english, 2008
6
Association study ofTP53polymorphisms with lung cancer in a Korean population
Hae-Yun Jung
,
Young Mi Whang
,
Jae Sook Sung
,
Hyoung Doo Shin
,
Byung Lae Park
,
Jun Suk Kim
,
Sang Won Shin
,
Hee Yun Seo
,
Jae Hong Seo
,
Yeul Hong Kim
Journal:
Journal of Human Genetics
Year:
2008
Language:
english
File:
PDF, 249 KB
Your tags:
english, 2008
7
Global correlation analysis for micro-RNA and mRNA expression profiles in human cell lines
Yoshinao Ruike
,
Atsuhiko Ichimura
,
Soken Tsuchiya
,
Kazuharu Shimizu
,
Ryo Kunimoto
,
Yasushi Okuno
,
Gozoh Tsujimoto
Journal:
Journal of Human Genetics
Year:
2008
Language:
english
File:
PDF, 748 KB
Your tags:
english, 2008
8
Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease
Paola Mandich
,
Marina Grandis
,
Alessandro Geroldi
,
Massimo Acquaviva
,
Alessandra Varese
,
Rossella Gulli
,
Paola Ciotti
,
Emilia Bellone
Journal:
Journal of Human Genetics
Year:
2008
Language:
english
File:
PDF, 166 KB
Your tags:
english, 2008
9
Early modification of sickle cell disease clinical course by UDP-glucuronosyltransferase 1A1 gene promoter polymorphism
Rute Martins
,
Anabela Morais
,
Alexandra Dias
,
Isabel Soares
,
Cristiana Rolão
,
J. L. Ducla-Soares
,
Lígia Braga
,
Teresa Seixas
,
Baltazar Nunes
,
Gabriel Olim
,
Luísa Romão
,
João Lavinha
,
Paula Faustino
Journal:
Journal of Human Genetics
Year:
2008
Language:
english
File:
PDF, 161 KB
Your tags:
english, 2008
10
Identification of 13 novel mutations including a retrotransposal insertion inSLC25A13gene and frequency of 30 mutations found in patients with citrin deficiency
Ayako Tabata
,
Jian-Sheng Sheng
,
Miharu Ushikai
,
Yuan-Zong Song
,
Hong-Zhi Gao
,
Yao-Bang Lu
,
Fumihiko Okumura
,
Mikio Iijima
,
Kozo Mutoh
,
Shosei Kishida
,
Takeyori Saheki
,
Keiko Kobayashi
Journal:
Journal of Human Genetics
Year:
2008
Language:
english
File:
PDF, 1.51 MB
Your tags:
english, 2008
11
Variations in theFTOgene are associated with severe obesity in the Japanese
Kikuko Hotta
,
Yoshio Nakata
,
Tomoaki Matsuo
,
Seika Kamohara
,
Kazuaki Kotani
,
Ryoya Komatsu
,
Naoto Itoh
,
Ikuo Mineo
,
Jun Wada
,
Hiroaki Masuzaki
,
Masato Yoneda
,
Atsushi Nakajima
,
Shigeru Miyazaki
,
Katsu
Journal:
Journal of Human Genetics
Year:
2008
Language:
english
File:
PDF, 266 KB
Your tags:
english, 2008
12
Screening ofBCS1Lmutations in severe neonatal disorders suspicious for mitochondrial cause
Vineta Fellman
,
Susanna Lemmelä
,
Antti Sajantila
,
Helena Pihko
,
Irma Järvelä
Journal:
Journal of Human Genetics
Year:
2008
Language:
english
File:
PDF, 200 KB
Your tags:
english, 2008
13
TIM-3 polymorphisms in type 1 diabetes families
Patrick Brück
,
Elizabeth Ramos-Lopez
,
Wiebke Bartsch
,
Angelika Böhme
,
Klaus Badenhoop
Journal:
Journal of Human Genetics
Year:
2008
Language:
english
File:
PDF, 243 KB
Your tags:
english, 2008
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