Volume 66; Issue 4

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Clinical Genetics
Volume 66; Issue 4

Clinical Genetics

Volume 66; Issue 4

1

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

H Blons, D Feldmann, V Duval, O Messaz, F Denoyelle, N Loundon, A Sergout-Allaoui, M Houang, F Duriez, D Lacombe, B Delobel, J Leman, H Catros, H Journel, V Drouin-Garraud, M-F Obstoy, A Toutain, S Od

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 123 KB

english, 2004

2

Genetic discrimination: the clinician perspective

R Nedelcu, KR Blazer, BU Schwerin, P Gambol, P Mantha, GC Uman, JN Weitzel

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 94 KB

english, 2004

3

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations

A Kumar, SH Blanton, M Babu, M Markandaya, SC Girimaji

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 531 KB

english, 2004

4

Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor

JJ Higgins, RQ Lombardi, EK Tan, J Jankovic, J Pucilowska, JP Rooney

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 99 KB

english, 2004

5

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

T Kleefstra, CE Franken, YHJM Arens, GJA Ramakers, HG Yntema, EA Sistermans, CFCH Hulsmans, WN Nillesen, H Van Bokhoven, BBA De Vries, BCJ Hamel

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 693 KB

english, 2004

6

Genetic variation at the perilipin (PLIN) locus is associated with obesity-related phenotypes in White women

L Qi, D Corella, JV Sorlí, O Portolés, H Shen, O Coltell, D Godoy, AS Greenberg, JM Ordovas

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 150 KB

english, 2004

7

The dynamics of X-inactivation skewing as women age

C Hatakeyama, CL Anderson, CL Beever, MS Peñaherrera, CJ Brown, WP Robinson

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 153 KB

english, 2004

8

Refined mapping of the autosomal recessive non-syndromic deafness locus DFNB13 using eight novel microsatellite markers

S Masmoudi, I Charfedine, IB Rebeh, A Rebai, A Tlili, AM Ghorbel, H Belguith, C Petit, M Drira, H Ayadi

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 118 KB

english, 2004

9

Cost analysis of DNA-based testing in a large Canadian family with multiple endocrine neoplasia type 2

DM Gilchrist, DW Morrish, PJ Bridge, JL Brown

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 81 KB

english, 2004

10

Common variants in β2- and β3-adrenergic receptor genes and uncoupling protein 1 as predictors of the risk for type 2 diabetes and body weight changes. The Finnish Diabetes Prevention Study

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 82 KB

english, 2004

11

T-box genes and congenital heart/limb malformations

D Isphording, AM Leylek, J Yeung, A Mischel, H-G Simon

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 3.37 MB

english, 2004

12

Will the new cytogenetics replace the old cytogenetics?

M Salman, SC Jhanwar, H Ostrer

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 2.44 MB

english, 2004

13

Genetic basis of Prader–Willi syndrome in Korea: less uniparental disomy than has been recognized?

H-J Kim, H-J Cho, D-K Jin, E-K Kwon, C-S Ki, J-W Kim, S-H Kim

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 91 KB

english, 2004

14

Genetic landmarks through philately – epilepsy and clinical genetic issues

BN Chodirker, AE Chudley

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 2.72 MB

english, 2004

15

HD aggregates accelerate autophagy

D Rogers, BR Leavitt

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 182 KB

english, 2004

16

Turning up the heat on hereditary neuropathies

SS Lee, BR Leavitt

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 182 KB

english, 2004

17

Computational biology to the rescue: the ongoing quest to understand Bardet–Biedl syndrome

AK Bhogal, BR Leavitt

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 182 KB

english, 2004

18

Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human

LJ Richards, C Plachez, T Ren

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 1.47 MB

english, 2004

19

Erratum

Journal:

Clinical Genetics

Year:

2004

File:

PDF, 30 KB

2004

20

Erratum

Journal:

Clinical Genetics

Year:

2004

File:

PDF, 28 KB

2004

21

Erratum

Journal:

Clinical Genetics

Year:

2004

File:

PDF, 28 KB

2004

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