Volume 133; Issue 6

Main
Human Genetics
Volume 133; Issue 6

Human Genetics

Volume 133; Issue 6

1

Genomics meets proteomics: identifying the culprits in disease

Stunnenberg, Hendrik G., Hubner, Nina C.

Journal:

Year:

2014

Language:

english

File:

PDF, 797 KB

english, 2014

2

The grammar of transcriptional regulation

Weingarten-Gabbay, Shira, Segal, Eran

Journal:

Year:

2014

Language:

english

File:

PDF, 629 KB

english, 2014

3

A novel variant in the 3′ UTR of humanSCN1Agene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH’s binding

Zeng, Tao, Dong, Zhao-Fei, Liu, Shu-Jing, Wan, Rui-Ping, Tang, Ling-Jia, Liu, Ting, Zhao, Qi-Hua, Shi, Yi-Wu, Yi, Yong-Hong, Liao, Wei-Ping, Long, Yue-Sheng

Journal:

Year:

2014

Language:

english

File:

PDF, 609 KB

english, 2014

4

Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin–Beck disease

Zhang, Feng, Guo, Xiong, Zhang, Yinping, Wen, Yan, Wang, Weizhuo, Wang, Sen, Yang, Tielin, Shen, Hui, Chen, Xiangding, Tian, Qing, Tan, Lijun, Deng, Hong-Wen

Journal:

Year:

2014

Language:

english

File:

PDF, 344 KB

english, 2014

5

Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders

Waltes, Regina, Duketis, Eftichia, Knapp, Michael, Anney, Richard J. L., Huguet, Guillaume, Schlitt, Sabine, Jarczok, Tomasz A., Sachse, Michael, Kämpfer, Laura M., Kleinböck, Tina, Poustka, Fritz, Bö

Journal:

Year:

2014

Language:

english

File:

PDF, 400 KB

english, 2014

6

Analysis of coding variants identified from exome sequencing resources for association with diabetic and non-diabetic nephropathy in African Americans

Cooke Bailey, Jessica N., Palmer, Nicholette D., Ng, Maggie C. Y., Bonomo, Jason A., Hicks, Pamela J., Hester, Jessica M., Langefeld, Carl D., Freedman, Barry I., Bowden, Donald W.

Journal:

Year:

2014

Language:

english

File:

PDF, 244 KB

english, 2014

7

Engineered chromosome-based genetic mapping establishes a 3.7

Liu, Chunhong, Morishima, Masae, Jiang, Xiaoling, Yu, Tao, Meng, Kai, Ray, Debjit, Pao, Annie, Ye, Ping, Parmacek, Michael S., Yu, Y. Eugene

Journal:

Year:

2014

Language:

english

File:

PDF, 573 KB

english, 2014

8

De novoACTG2mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Thorson, Willa, Diaz-Horta, Oscar, Foster, Joseph, Spiliopoulos, Michail, Quintero, Rubén, Farooq, Amjad, Blanton, Susan, Tekin, Mustafa

Journal:

Year:

2014

Language:

english

File:

PDF, 500 KB

english, 2014

9

Determining causality and consequence of expression quantitative trait loci

Battle, A., Montgomery, S. B.

Journal:

Year:

2014

Language:

english

File:

PDF, 537 KB

english, 2014

10

Cancer genomics identifies disrupted epigenetic genes

Simó-Riudalbas, Laia, Esteller, Manel

Journal:

Year:

2014

Language:

english

File:

PDF, 1011 KB

english, 2014

11

Identification of rare genetic variants in novel loci associated with Paget’s disease of bone

Beauregard, Mariejka, Gagnon, Edith, Guay-Bélanger, Sabrina, Morissette, Jean, Brown, Jacques P., Michou, Laëtitia

Journal:

Year:

2014

Language:

english

File:

PDF, 679 KB

english, 2014

12

Genomics of alternative splicing: evolution, development and pathophysiology

Gamazon, Eric R., Stranger, Barbara E.

Journal:

Year:

2014

Language:

english

File:

PDF, 353 KB

english, 2014

13

Lyle Armstrong: Epigenetics

Temple, I. Karen

Journal:

Year:

2014

Language:

english

File:

PDF, 124 KB

english, 2014

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@z-lib.do

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