Volume 124; Issue 4

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Human Genetics
Volume 124; Issue 4

Human Genetics

Volume 124; Issue 4

1

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

Kathryn P. Burdon, Douglas J. Coster, Jac C. Charlesworth, Richard A. Mills, Kate J. Laurie, Cecilia Giunta, Alex W. Hewitt, Paul Latimer, Jamie E. Craig

Journal:

Year:

2008

Language:

english

File:

PDF, 469 KB

english, 2008

2

Human hereditary hearing impairment: mouse models can help to solve the puzzle

Karen Vrijens, Lut Van Laer, Guy Van Camp

Journal:

Year:

2008

Language:

english

File:

PDF, 1.01 MB

english, 2008

3

Partial 5p monosomy or trisomy in 11 patients from a family with a t(5;15)(p13.3;p12) translocation

Acácia Fernandes Lacerda de Carvalho, Fernanda Teixeira da Silva Bellucco, Leslie Domenici Kulikowski, Maria Betânia Pereira Toralles, Maria Isabel Melaragno

Journal:

Year:

2008

Language:

english

File:

PDF, 326 KB

english, 2008

4

Association of amyloid precursor protein-binding protein, family B, member 1 with nicotine dependence in African and European American smokers

Guo-Bo Chen, Thomas J. Payne, Xiang-Yang Lou, Jennie Z. Ma, Jun Zhu, Ming D. Li

Journal:

Year:

2008

Language:

english

File:

PDF, 321 KB

english, 2008

5

Osteoporosis: an evolutionary perspective

Journal:

Year:

2008

Language:

english

File:

PDF, 351 KB

english, 2008

6

Identifying modifier genes of monogenic disease: strategies and difficulties

Emmanuelle Génin, Josué Feingold, Françoise Clerget-Darpoux

Journal:

Year:

2008

Language:

english

File:

PDF, 395 KB

english, 2008

7

PartialAZFcdeletions and duplications: clinical correlates in the Italian population

Claudia Giachini, Ilaria Laface, Elena Guarducci, Giancarlo Balercia, Gianni Forti, Csilla Krausz

Journal:

Year:

2008

Language:

english

File:

PDF, 508 KB

english, 2008

8

The clinical characteristics of Werner syndrome: molecular and biochemical diagnosis

Meltem Muftuoglu, Junko Oshima, Cayetano von Kobbe, Wen-Hsing Cheng, Dru F. Leistritz, Vilhelm A. Bohr

Journal:

Year:

2008

Language:

english

File:

PDF, 411 KB

english, 2008

9

Elof Axel Carlson: Neither gods nor beasts. How science is changing who we think we are

Journal:

Year:

2008

Language:

english

File:

PDF, 106 KB

english, 2008

10

Association between Apolipoprotein E genotype and cerebral palsy is not confirmed in a Caucasian population

Gai L. McMichael, Catherine S. Gibson, Paul N. Goldwater, Eric A. Haan, Kevin Priest, Gustaaf A. Dekker, Alastair H. MacLennan, for the South Australian Cerebral Palsy Research Group

Journal:

Year:

2008

Language:

english

File:

PDF, 266 KB

english, 2008

11

Re-creation of the genetic composition of a founder population

William Klitz, Martin Maiers, Loren Gragert

Journal:

Year:

2008

Language:

english

File:

PDF, 200 KB

english, 2008

12

A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2–q26.33

Xiao-Hua Dai, Wen-Wu Chen, Xu Wang, Qi-Hui Zhu, Cong Li, Lin Li, Mu-Gen Liu, Qing-K. Wang, Jing-Yu Liu

Journal:

Year:

2008

Language:

english

File:

PDF, 361 KB

english, 2008

13

Association ofSIRT1gene variation with visceral obesity

Armand V. Peeters, Sigri Beckers, An Verrijken, Ilse Mertens, Peter Roevens, Pieter J. Peeters, Wim Van Hul, Luc F. Van Gaal

Journal:

Year:

2008

Language:

english

File:

PDF, 299 KB

english, 2008

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