Volume 63; Issue 4

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Clinical Genetics
Volume 63; Issue 4

Clinical Genetics

Volume 63; Issue 4

1

Skeletal dysplasias caused by a disruption of skeletal patterning and endochondral ossification

B Newman, GA Wallis

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 831 KB

english, 2003

2

KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death

S Chen, L Zhang, RM Bryant, GM Vincent, M Flippin, JC Lee, E Brown, F Zimmerman, R Rozich, P Szafranski, C Oberti, R Sterba, D Marangi, PJ Tchou, MK Chung, Q Wang

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 971 KB

english, 2003

3

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies

MC Digilio, A Angioni, M De Santis, A Lombardo, A Giannotti, B Dallapiccola, B Marino

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 1.29 MB

english, 2003

4

A submicroscopic deletion of 11p13 associated with the WAGR syndrome

Guiomar Pérez de Nanclares, Francisco Martínez, Jose Ramon Bilbao, Aurora Navajas, Ricardo Martínez, Ma Asunción López-Arístegui, Luis Castaño

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 103 KB

english, 2003

5

Cerebro–oculo–facial–lymphatic syndrome

JM Milunsky, DM Capin

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 3.04 MB

english, 2003

6

Analysis of Sanfilippo A gene mutations in a large pedigree

P Di Natale, GRD Villani, C Di Domenico, A Daniele, C Dionisi Vici, A Bartuli

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 3.58 MB

english, 2003

7

Genetic heterogeneity for a Nijmegen breakage-like syndrome

P Maraschio, E Spadoni, C Tanzarella, A Antoccia, A Di Masi, M Maghnie, R Varon, I Demuth, L Tiepolo, C Danesino

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 379 KB

english, 2003

8

Tangier disease with unusual clinical manifestations

Genovefa D. Kolovou, David P. Wade, Ranjita Sengupta, Dennis V. Cokkinos

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 64 KB

english, 2003

9

The contribution of USH1C mutations to syndromic and non-syndromic deafness in the UK

DC Blaydon, RF Mueller, TP Hutchin, BP Leroy, SS Bhattacharya, AC Bird, S Malcolm, M Bitner-Glindzicz

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 91 KB

english, 2003

10

Molecular characterization of a unique de novo 15q deletion associated with Prader–Willi syndrome and central visual impairment

C Windpassinger, E Petek, K Wagner, A Langmann, K Buiting, PM Kroisel

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 2.93 MB

english, 2003

11

Failure of prenatal diagnosis of diploid–triploid mosaicism after amniocentesis

E Flori, B Doray, G Rudolf, R Favre, F Girard-Lemaire, C Schluth, I Zix-Kieffer, J Flori, M Loriot, E Schmitt, Y Rumpler

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 1.10 MB

english, 2003

12

Detection of five new mutations in the APC gene using denaturing high-performance liquid chromatography

W Heinritz, A Kujat, UG Froster

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 1.10 MB

english, 2003

13

The developing heart and congenital heart defects: a make or break situation

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 5.68 MB

english, 2003

14

The complicity of segmental duplicity in human genetic disease

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 109 KB

english, 2003

15

Landmarks in genetics through philately: Down syndrome

AE Chudley, BN Chodirker

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 9.52 MB

english, 2003

16

Nature's accounting: the gains, losses and human cost of duplicon-mediated genomic imbalance

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 109 KB

english, 2003

17

Chromosome 22: a little chromosome that presents a larger understanding of genomic disorders

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 109 KB

english, 2003

18

Searching the vast array of genomic disorders

Journal:

Clinical Genetics

Year:

2003

Language:

english

File:

PDF, 109 KB

english, 2003