Volume 125; Issue 4

Main
Human Genetics
Volume 125; Issue 4

Human Genetics

Volume 125; Issue 4

1

Truncating loss-of-function mutations ofDISP1contribute to holoprosencephaly-like microform features in humans

Erich Roessler, Yong Ma, Maia V. Ouspenskaia, Felicitas Lacbawan, Claude Bendavid, Christèle Dubourg, Philip A. Beachy, Maximilian Muenke

Journal:

Year:

2009

Language:

english

File:

PDF, 336 KB

english, 2009

2

Mutation screening of apical sodium-dependent bile acid transporter (SLC10A2): novel haplotype block including six newly identified variants linked to reduced expression

Olga Renner, Simone Harsch, Elke Schaeffeler, Matthias Schwab, Dietmar M. Klass, Wolfgang Kratzer, Eduard F. Stange

Journal:

Year:

2009

Language:

english

File:

PDF, 336 KB

english, 2009

3

PHEXanalysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets

Céline Gaucher, Odile Walrant-Debray, Thy-Minh Nguyen, Laure Esterle, Michèle Garabédian, Frédéric Jehan

Journal:

Year:

2009

Language:

english

File:

PDF, 690 KB

english, 2009

4

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms

Zacharias Aloysius Dwi Pramono, Chin Lai Tan, Irene Ai Lian Seah, Joseph Shean Long See, Siok Yuen Kam, Poh San Lai, Woon Chee Yee

Journal:

Year:

2009

Language:

english

File:

PDF, 413 KB

english, 2009

5

Andrew Read and Dian Donnai: New clinical genetics

Douglas E. Wilcox

Journal:

Year:

2009

Language:

english

File:

PDF, 124 KB

english, 2009

6

Lindell Bromham: Reading the story in DNA

Sara L. Goodacre

Journal:

Year:

2009

Language:

english

File:

PDF, 117 KB

english, 2009

7

The correspondence of Charles Darwin 1868

Peter S. Harper

Journal:

Year:

2009

Language:

english

File:

PDF, 126 KB

english, 2009

8

FAS−1,377 G/A polymorphism is associated with cancer susceptibility: evidence from 10,564 cases and 12,075 controls

Li-Xin Qiu, Jian Shi, Hui Yuan, Xin Jiang, Kai Xue, Hai-Feng Pan, Jin Li, Ming-Hua Zheng

Journal:

Year:

2009

Language:

english

File:

PDF, 240 KB

english, 2009

9

Ectodermal dysplasia-cutaneous syndactyly syndrome maps to chromosome 7p21.1-p14.3

Muhammad Tariq, Muhammad Nasim Khan, Wasim Ahmad

Journal:

Year:

2009

Language:

english

File:

PDF, 549 KB

english, 2009

10

SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications

Yih-Ru Wu, I-Cheng Chen, Bing-Wen Soong, Shih-Huan Kao, Ghin-Chueh Lee, Shu-Yi Huang, Hon-Chung Fung, Guey-Jen Lee-Chen, Chiung-Mei Chen

Journal:

Year:

2009

Language:

english

File:

PDF, 463 KB

english, 2009

11

Analyses of associations with asthma in four asthma population samples from Canada and Australia

Denise Daley, Mathieu Lemire, Loubna Akhabir, Moira Chan-Yeung, Jian Qing He, Treena McDonald, Andrew Sandford, Dorota Stefanowicz, Ben Tripp, David Zamar, Yohan Bosse, Vincent Ferretti, Alexandre Mon

Journal:

Year:

2009

Language:

english

File:

PDF, 301 KB

english, 2009

12

Genomics and policymaking: from static models to complex systems?

Bartha Maria Knoppers

Journal:

Year:

2009

Language:

english

File:

PDF, 202 KB

english, 2009

13

The molecular basis of human keratin disorders

Meral Julia Arin

Journal:

Year:

2009

Language:

english

File:

PDF, 597 KB

english, 2009

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