Volume 56; Issue 1

Main
Journal of Human Genetics
Volume 56; Issue 1

Journal of Human Genetics

Volume 56; Issue 1

1

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Ouechtati, Farah, Merdassi, Ahlem, Bouyacoub, Yosra, Largueche, Leila, Derouiche, Kaouther, Ouragini, Houyem, Nouira, Sonia, Tiab, Leila, Baklouti, Karim, Rebai, Ahmed

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 620 KB

english, 2010

2

SNPs on chromosome 5p15.3 associated with myocardial infarction in Japanese population

Aoki, Asako, Ozaki, Kouichi, Sato, Hiroshi, Takahashi, Atsushi, Kubo, Michiaki, Sakata, Yasuhiko, Onouchi, Yoshihiro, Kawaguchi, Takahisa, Lin, Tsung-Hsien, Takano, Hitoshi

Journal:

Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 323 KB

english, 2010

3

Genotype–phenotype associations and human eye color

White, Désirée, Rabago-Smith, Montserrat

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 167 KB

english, 2011

4

The ENPP1 K121Q polymorphism is not associated with type 2 diabetes or obesity in the Chinese Han population

Zhao, Teng, Liu, Zhe, Zhang, Di, Liu, Yun, Yang, Yifeng, Zhou, Daizhan, Chen, Zhuo, Yu, Lan, Zhang, Zuofeng, Feng, Guoyin, He, Lin, Xu, He

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 284 KB

english, 2011

5

Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants

Cheng, Xiuyong, Li, Tongchuan, Wang, Honglian, Zhu, Dengna, Ma, Caiyun, Ma, Bingxiang, Wang, Yinghong, Zhang, Junyu, Guo, Luo, Wang, Lei, Yun, Liu, Chen, Shiting, Jiang, Zedong, He, Lin, Zhu, Changlia

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 225 KB

english, 2011

6

Association of serotonin transporter gene variation with smoking, chronic obstructive pulmonary disease, and its depressive symptoms

Ishii, Takeo, Wakabayashi, Ritsuko, Kurosaki, Hiroko, Gemma, Akihiko, Kida, Kozui

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 313 KB

english, 2011

7

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene

Kamada, Fumiaki, Aoki, Yoko, Narisawa, Ayumi, Abe, Yu, Komatsuzaki, Shoko, Kikuchi, Atsuo, Kanno, Junko, Niihori, Tetsuya, Ono, Masao, Ishii, Naoto, Owada, Yuji, Fujimura, Miki, Mashimo, Yoichi, Suzuk

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 508 KB

english, 2011

8

Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance-Horan syndrome

Liao, Hsiao-Mei, Niu, Dau-Ming, Chen, Yan-Jang, Fang, Jye-Siung, Chen, Shih-Jen, Chen, Chia-Hsiang

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 325 KB

english, 2011

9

Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China

Sun, Yi, Chen, Jing, Sun, Hanjun, Cheng, Jing, Li, Jianzhong, Lu, Yu, Lu, Yanping, Jin, Zhanguo, Zhu, Yuhua, Ouyang, Xiaomei, Yan, Denise, Dai, Pu, Han, Dongyi, Yang, Weiyan, Wang, Rongguang, Liu, Xue

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 809 KB

english, 2011

10

Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation

Fedyna, Alison, Drayna, Dennis, Kang, Changsoo

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 230 KB

english, 2011

11

In the new year

Tokunaga, Katsushi

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 114 KB

english, 2011

12

Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling

Martorell, Loreto, Nascimento, María T, Colome, Roser, Genovés, Jordi, Naudó, Montserrat, Nascimento, Andrés

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 239 KB

english, 2011

13

Androgenetic/biparental mosaicism in a girl with Beckwith–Wiedemann syndrome-like and upd(14)pat-like phenotypes

Yamazawa, Kazuki, Nakabayashi, Kazuhiko, Matsuoka, Kentaro, Masubara, Keiko, Hata, Kenichiro, Horikawa, Reiko, Ogata, Tsutomu

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 257 KB

english, 2011

14

A Japanese trichothiodystrophy patient with XPD mutations

Usuda, Touhei, Saijo, Masafumi, Tanaka, Kiyoji, Sato, Nobuyuki, Uchiyama, Makoto, Kobayashi, Takehiro

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 274 KB

english, 2011

15

An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain

Fichou, Yann, Nectoux, Juliette, Bahi-Buisson, Nadia, Chelly, Jamel, Bienvenu, Thierry

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 795 KB

english, 2011

16

Y-chromosome R-M343 African lineages and sickle cell disease reveal structured assimilation in Lebanon

Haber, Marc, Platt, Daniel E, Khoury, Simon, Badro, Danielle A, Abboud, Miguel, Tyler-Smith, Chris, Zalloua, Pierre A

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 403 KB

english, 2011

17

Cyclin D1 rare variants in UK multiple adenoma and early-onset colorectal cancer patients

Bonilla, Carolina, Lefèvre, Jérémie H, Winney, Bruce, Johnstone, Elaine, Tonks, Susan, Colas, Chrystelle, Day, Tammy, Hutnik, Katarzyna, Boumertit, Abdelhamid, Midgley, Rachel, Kerr, David, Parc, Yann

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 290 KB

english, 2011

18

Evidence for epistatic interactions in antiepileptic drug resistance

Kim, Myeong-Kyu, Moore, Jason H, Kim, Jong-Ki, Cho, Ki-Hyun, Cho, Yong-Won, Kim, Yo-Sik, Lee, Min-Cheol, Kim, Young-Ok, Shin, Min-Ho

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 310 KB

english, 2011

19

Chromosome 17q21 SNP and severe asthma

Binia, Aristea, Khorasani, Nadia, Bhavsar, Pankaj K, Adcock, Ian, Brightling, Chris E, Chung, K Fan, Cookson, William O C, Moffatt, Miriam F

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 117 KB

english, 2011

20

Commentary on ‘Identification of a microdeletion at Xp22.13 in a Taiwanese family presenting with Nance–Horan syndrome’

Okamoto, Nobuhiko

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 73 KB

english, 2011

21

Low prevalence of classical galactosemia in Korean population

Lee, Beom Hee, Cheon, Chong Kun, Kim, Jae-Min, Kang, Minji, Kim, Joo Hyun, Yang, Song Hyun, Kim, Gu-Hwan, Choi, Jin-ho, Yoo, Han-Wook

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 181 KB

english, 2011

22

A new c.1621 C>G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype–phenotype correlation

Małek, Łukasz A, Labib, Sarah, Mazurkiewicz, Łukasz, Saj, Michał, Płoski, Rafał, Tesson, Frédérique, Bilińska, Zofia T

Journal:

Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 416 KB

english, 2011

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски