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Volume 58; Issue 9
Main
Journal of Human Genetics
Volume 58; Issue 9
Journal of Human Genetics
Volume 58; Issue 9
1
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene
Brugnoni, Raffaella
,
Kapetis, Dimos
,
Imbrici, Paola
,
Pessia, Mauro
,
Canioni, Eleonora
,
Colleoni, Lara
,
de Rosbo, Nicole Kerlero
,
Morandi, Lucia
,
Cudia, Paola
,
Gashemi, Nasrin
,
Bernasconi, Pia
,
Desaphy
Journal:
Journal of Human Genetics
Year:
2013
Language:
english
File:
PDF, 847 KB
Your tags:
english, 2013
2
Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families
Kawaku, Shogo
,
Sato, Rieko
,
Song, Hao
,
Bando, Yuko
,
Arinami, Tadao
,
Noguchi, Emiko
Journal:
Journal of Human Genetics
Year:
2013
Language:
english
File:
PDF, 344 KB
Your tags:
english, 2013
3
Complete genome sequencing and variant analysis of a Pakistani individual
Azim, Muhammad Kamran
,
Yang, Chuanchun
,
Yan, Zhixiang
,
Choudhary, Muhammad Iqbal
,
Khan, Asifullah
,
Sun, Xiao
,
Li, Ran
,
Asif, Huma
,
Sharif, Sana
,
Zhang, Yong
Journal:
Journal of Human Genetics
Year:
2013
Language:
english
File:
PDF, 246 KB
Your tags:
english, 2013
4
Tracing the genomic ancestry of Peruvians reveals a major legacy of pre-Columbian ancestors
Sandoval, Jose R
,
Salazar-Granara, Alberto
,
Acosta, Oscar
,
Castillo-Herrera, Wilder
,
Fujita, Ricardo
,
Pena, Sergio DJ
,
Santos, Fabricio R
Journal:
Journal of Human Genetics
Year:
2013
Language:
english
File:
PDF, 1.05 MB
Your tags:
english, 2013
5
Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease
Yoshida, Tomokatsu
,
Mizuta, Ikuko
,
Saito, Kozo
,
Ohara, Ryo
,
Kurisaki, Hiroshi
,
Ohnari, Keiko
,
Riku, Yuichi
,
Hayashi, Yuichi
,
Suzuki, Hidekazu
,
Shii, Hiroaki
,
Fujiwara, Yasuhiro
,
Yonezu, Tadahiro
,
Naga
Journal:
Journal of Human Genetics
Year:
2013
Language:
english
File:
PDF, 246 KB
Your tags:
english, 2013
6
Identification of functional nucleotide and haplotype variants in the promoter of the CEBPE gene
Ryoo, Hyunju
,
Kong, Minyoung
,
Kim, Younyoung
,
Lee, Chaeyoung
Journal:
Journal of Human Genetics
Year:
2013
Language:
english
File:
PDF, 514 KB
Your tags:
english, 2013
7
A replication study for three nephrolithiasis loci at 5q35.3, 7p14.3 and 13q14.1 in the Japanese population
Yasui, Takahiro
,
Okada, Atsushi
,
Urabe, Yuji
,
Usami, Masayuki
,
Mizuno, Kentaro
,
Kubota, Yasue
,
Tozawa, Keiichi
,
Sasaki, Shoichi
,
Higashi, Yoshihito
,
Sato, Yoshikazu
,
Kubo, Michiaki
,
Nakamura, Yusuke
,
Journal:
Journal of Human Genetics
Year:
2013
Language:
english
File:
PDF, 297 KB
Your tags:
english, 2013
8
Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith–Wiedemann syndrome and Silver–Russell syndrome
Lee, Beom Hee
,
Kim, Gu-Hwan
,
Oh, Tae Jeong
,
Kim, Joo Hyun
,
Lee, Jin-Joo
,
Choi, Seung Hoon
,
Lee, Joo Yeon
,
Kim, Jae-Min
,
Choi, In Hee
,
Kim, Yoo-Mi
,
Choi, Jin-Ho
,
Yoo, Han-Wook
Journal:
Journal of Human Genetics
Year:
2013
Language:
english
File:
PDF, 412 KB
Your tags:
english, 2013
9
The SCN1A gene variants and epileptic encephalopathies
Parihar, Rashmi
,
Ganesh, Subramaniam
Journal:
Journal of Human Genetics
Year:
2013
Language:
english
File:
PDF, 1.47 MB
Your tags:
english, 2013
10
A common and two novel GBA mutations in Thai patients with Gaucher disease
Tammachote, Rachaneekorn
,
Tongkobpetch, Siraprapa
,
Srichomthong, Chalurmpon
,
Phipatthanananti, Kampon
,
Pungkanon, Suthipong
,
Wattanasirichaigoon, Duangrurdee
,
Suphapeetiporn, Kanya
,
Shotelersuk, Voras
Journal:
Journal of Human Genetics
Year:
2013
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 2013
11
Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis
Yasui, Naoko
,
Takaoka, Yutaka
,
Nishio, Hisahide
,
Nurputra, Dian K
,
Sekiguchi, Kenji
,
Hamaguchi, Hirotoshi
,
Kowa, Hisatomo
,
Maeda, Eiichi
,
Sugano, Aki
,
Miura, Kenji
,
Sakaeda, Toshiyuki
,
Kanda, Fumio
,
T
Journal:
Journal of Human Genetics
Year:
2013
Language:
english
File:
PDF, 1.24 MB
Your tags:
english, 2013
12
CEBPE promoter SNPs, caught red handed? A commentary on identification of functional nucleotide and haplotype variants in the promoter of the CEBPE gene
Xu, Heng
,
Yang, Jun J
Journal:
Journal of Human Genetics
Year:
2013
Language:
english
File:
PDF, 113 KB
Your tags:
english, 2013
13
New developments in medical education for the realization of next-generation personalized medicine: concept and design of a medical education and training program through the genomic cohort study
Narimatsu, Hiroto
,
Kitanaka, Chifumi
,
Kubota, Isao
,
Sato, Shinya
,
Ueno, Yoshiyuki
,
Kato, Takeo
,
Fukao, Akira
,
Yamashita, Hidetoshi
,
Kayama, Takamasa
Journal:
Journal of Human Genetics
Year:
2013
Language:
english
File:
PDF, 113 KB
Your tags:
english, 2013
14
Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population
Bashir, Zil-e-Huma
,
Latief, Noreen
,
Belyantseva, Inna A
,
Iqbal, Farheena
,
Amer Riazuddin, Sheikh
,
Khan, Shaheen N
,
Friedman, Thomas B
,
Riazuddin, Sheikh
,
Riazuddin, Saima
Journal:
Journal of Human Genetics
Year:
2013
File:
PDF, 61 KB
Your tags:
2013
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