Volume 113; Issue 2

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Human Genetics
Volume 113; Issue 2

Human Genetics

Volume 113; Issue 2

1

Linkage and association mapping of theLRP5locus on chromosome

Rebecca C. J. Twells, Charles A. Mein, Felicity Payne, Riitta Veijola, Matthew Gilbey, Matthew Bright, Andrew Timms, Yusuke Nakagawa, Hywel Snook, Sarah Nutland, Helen E. Rance, Philippa Carr, Frank D

Journal:

Year:

2003

Language:

english

File:

PDF, 173 KB

english, 2003

2

Translocation breakpoint in two unrelated Tourette syndrome cases, within a region previously linked to the disorder

Fiona C. Crawford, Ghania Ait-Ghezala, Mark Morris, Maxine J. Sutcliffe, Robert A. Hauser, Archie A. Silver, Michael J. Mullan

Journal:

Year:

2003

Language:

english

File:

PDF, 280 KB

english, 2003

3

ABCA1gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore

Jenny Hui-Hui Tan, Poh-Sim Low, Yong-Seng Tan, Ming-Chuan Tong, Nilmani Saha, Hongyuan Yang, Chew-Kiat Heng

Journal:

Year:

2003

Language:

english

File:

PDF, 283 KB

english, 2003

4

A deletion in the human QP-C gene causes a complex

Sandrine Haut, Michèle Brivet, Guy Touati, Pierre Rustin, Sophie Lebon, Angela Garcia-Cazorla, Jean Marie Saudubray, Audrey Boutron, Alain Legrand, Abdelhamid Slama

Journal:

Year:

2003

Language:

english

File:

PDF, 183 KB

english, 2003

5

Disruption of exon definition produces a dominant-negative growth hormone isoform that causes somatotroph death and IGHD

Robin C. C. Ryther, Lindsay M. McGuinness, John A. Phillips, Chanda T. Moseley, Charalambos B. Magoulas, Iain C. A. F. Robinson, James G. Patton

Journal:

Year:

2003

Language:

english

File:

PDF, 596 KB

english, 2003

6

SONIC HEDGEHOGmutations causing human holoprosencephaly impair neural patterning activity

Can Schell-Apacik, Mariel Rivero, Jessica L. Knepper, Erich Roessler, Maximilian Muenke, Jeffrey E. Ming

Journal:

Year:

2003

Language:

english

File:

PDF, 1.09 MB

english, 2003

7

Methods in molecular biology, vol

Journal:

Year:

2003

Language:

english

File:

PDF, 83 KB

english, 2003

8

David J. Galas, Stephen J. McCormack (eds): Genomic Technologies — Present and Future. Functional Genomics Series, Vol 1 (Series ed: Milton H. Saier Jr)

Journal:

Year:

2003

Language:

english

File:

PDF, 98 KB

english, 2003

9

Common 5′ β-globin RFLP haplotypes harbour a surprising level of ancestral sequence mosaicism

Matthew T. Webster, John B. Clegg, Rosalind M. Harding

Journal:

Year:

2003

Language:

english

File:

PDF, 551 KB

english, 2003

10

Interphase FISH, the structure of reciprocal translocation chromosomes and physical mapping studies rule out the duplication of theNF1gene at 17q11.2. A reply

Hildegard Kehrer-Sawatzki, Ludwine Messiaen

Journal:

Year:

2003

Language:

english

File:

PDF, 208 KB

english, 2003

11

Cis-acting variation in the expression of a high proportion of genes in human brain

Nicholas J. Bray, Paul R. Buckland, Michael J. Owen, Michael C. O'Donovan

Journal:

Year:

2003

Language:

english

File:

PDF, 279 KB

english, 2003

12

Bone dysplasias: an atlas of genetic disorders of skeletal development, 2nd edition

Journal:

Year:

2003

Language:

english

File:

PDF, 95 KB

english, 2003

13

Hyaluronan is not elevated in urine or serum in Hutchinson-Gilford Progeria Syndrome

Leslie B. Gordon, Ingrid A. Harten, Anthony Calabro, Geetha Sugumaran, Antonei B. Csoka, W. Ted Brown, Vincent Hascall, Bryan P. Toole

Journal:

Year:

2003

Language:

english

File:

PDF, 362 KB

english, 2003

14

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype

Adriana Maria Montaño, Ilkka Kaitila, Kazuko Sukegawa, Shunji Tomatsu, Zenichiro Kato, Haruki Nakamura, Seiji Fukuda, Tadao Orii, Naomi Kondo

Journal:

Year:

2003

Language:

english

File:

PDF, 267 KB

english, 2003

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