Volume 65; Issue 5

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Clinical Genetics
Volume 65; Issue 5

Clinical Genetics

Volume 65; Issue 5

1

Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness

D Shears, H Conlon, T Murakami, K Fukai, R Alles, R Trembath, M Bitner-Glindzicz

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 1.94 MB

english, 2004

2

Association between −250G/A polymorphism of the hepatic lipase gene promoter and coronary artery disease and HDL-C levels in a Southern Brazilian population

FM De Andrade, FR Silveira, M Arsand, ALS Antunes, MR Torres, AJ Zago, SM Callegari-Jaques, MH Hutz

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 117 KB

english, 2004

3

Deletion of the TWIST gene in a large five-generation family

IM De Heer, AJM Hoogeboom, HJ Eussen, JM Vaandrager, A De Klein

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 437 KB

english, 2004

4

A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization

DA Koolen, LELM Vissers, W Nillesen, D Smeets, CMA Van Ravenswaaij, EA Sistermans, JA Veltman, BDA De Vries

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 1.10 MB

english, 2004

5

Getting at the heart of coronary disease

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 96 KB

english, 2004

6

Genomics goes to the dogs

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 96 KB

english, 2004

7

Texas physicians' perceptions of genomic medicine as an innovation

SG Suther, P Goodson

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 125 KB

english, 2004

8

A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis

MB Delatycki, KJ Allen, P Gow, J MacFarlane, C Radomski, J Thompson, MR Hayden, YP Goldberg, ME Samuels

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 509 KB

english, 2004

9

Prenatal diagnosis of de novo X;autosome translocations

L Abrams, PD Cotter

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 167 KB

english, 2004

10

Erratum

Journal:

Clinical Genetics

Year:

2004

File:

PDF, 36 KB

2004

11

A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome

SJ Hassed, D Hopcus-Niccum, L Zhang, S Li, JJ Mulvihill

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 2.30 MB

english, 2004

12

Mutations in the hMLH1 gene in Slovenian patients with gastric carcinoma

P Hudler, K Voulk, M Liovic, S Repse, R Juvan, R Komel

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 151 KB

english, 2004

13

Variations in high-density lipoprotein cholesterol in relation to physical activity and Taq 1B polymorphism of the cholesteryl ester transfer protein gene

M Mukherjee, KR Shetty

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 111 KB

english, 2004

14

Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 87 KB

english, 2004

15

Implementation of HaemScreen, a workplace-based genetic screening program for hemochromatosis

AE Nisselle, MB Delatycki, V Collins, S Metcalfe, MA Aitken, D Du Sart, J Halliday, I Macciocca, A Wakefield, V Hill, A Gason, B Warner, V Calabro, R Williamson, KJ Allen

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 152 KB

english, 2004

16

Genetic landmarks through philately – autism spectrum disorders: a genetic update : Section Editor: Albert E. Chudley, e-mail: achudley@hsc.mb.ca

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 2.43 MB

english, 2004