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Volume 63; Issue 4
Main
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 2003
5
Cerebro–oculo–facial–lymphatic syndrome
JM Milunsky
,
DM Capin
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 3.04 MB
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
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
Your tags:
english, 2003
13
The developing heart and congenital heart defects: a make or break situation
BG Bruneau
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 5.68 MB
Your tags:
english, 2003
14
The complicity of segmental duplicity in human genetic disease
M. E. S. Lewis
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 109 KB
Your tags:
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
Your tags:
english, 2003
16
Nature's accounting: the gains, losses and human cost of duplicon-mediated genomic imbalance
M. E. S. Lewis
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 109 KB
Your tags:
english, 2003
17
Chromosome 22: a little chromosome that presents a larger understanding of genomic disorders
M. E. S. Lewis
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 109 KB
Your tags:
english, 2003
18
Searching the vast array of genomic disorders
M. E. S. Lewis
Journal:
Clinical Genetics
Year:
2003
Language:
english
File:
PDF, 109 KB
Your tags:
english, 2003
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