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Volume 65; Issue 1
Main
Clinical Genetics
Volume 65; Issue 1
Clinical Genetics
Volume 65; Issue 1
1
Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?
AA Vorster
,
MT Rebello
,
N Coutts
,
L Ehrenreich
,
AD Gama
,
LJ Roberts
,
R Goliath
,
R Ramesar
,
LJ Greenberg
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 141 KB
Your tags:
english, 2004
2
Cryptic chromosomal rearrangement screening in 30 patients with mental retardation and dysmorphic features
L Rodriguez-Revenga
,
C Badenas
,
A Sánchez
,
J Mallolas
,
A Carrió
,
S Pedrinaci
,
JL Barrionuevo
,
M Milà
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 1.24 MB
Your tags:
english, 2004
3
Predictive testing for Huntington's disease: relationship with partners after testing
M Decruyenaere
,
G Evers-Kiebooms
,
T Cloostermans
,
A Boogaerts
,
K Demyttenaere
,
R Dom
,
JP Fryns
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 102 KB
Your tags:
english, 2004
4
SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism
B Leube
,
R Huber
,
TO Goecke
,
W Sandmann
,
B Royer-Pokora
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 67 KB
Your tags:
english, 2004
5
Screening for Down's syndrome in early and late first and second trimester using six maternal serum markers
M Christiansen
,
SO Larsen
,
C Oxvig
,
Q-P Qin
,
JM Wagner
,
MT Overgaard
,
GJ Gleich
,
L Sottrup-Jensen
,
B Nørgaard-Pedersen
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 113 KB
Your tags:
english, 2004
6
Cytogenetic and molecular analysis of a family with three brothers afflicted with germ-cell cancer
AM Ottesen
,
E Rajpert-De Meyts
,
M Holm
,
I-LF Andersen
,
PH Vogt
,
C Lundsteen
,
NE Skakkebæk
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 699 KB
Your tags:
english, 2004
7
Paternal origin of LMNA mutations in Hutchinson–Gilford progeria
MR D'Apice
,
R Tenconi
,
I Mammi
,
J van den Ende
,
G Novelli
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 68 KB
Your tags:
english, 2004
8
Refining the primary open-angle glaucoma GLC1C region on chromosome 3 by haplotype analysis
JR Samples
,
G Kitsos
,
E Economou-Petersen
,
P Steinkamp
,
R Sykes
,
K Rust
,
C Patzer
,
M Grigoriadou
,
G Aperis
,
K Psilas
,
MB Petersen
,
MK Wirtz
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 955 KB
Your tags:
english, 2004
9
Vitamin D receptor gene variants of BsmI, ApaI, TaqI, and FokI polymorphisms in spinal tuberculosis
P Selvaraj
,
SM Kurian
,
G Chandra
,
AM Reetha
,
N Charles
,
PR Narayanan
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 73 KB
Your tags:
english, 2004
10
Cerebellar ataxia as atypical manifestation of the 3243A>G MELAS mutation
V Petruzzella
,
S Zoccolella
,
A Amati
,
A Torraco
,
P Lamberti
,
F Carnicella
,
L Serlenga
,
S Papa
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 208 KB
Your tags:
english, 2004
11
An integrated approach to management of Marfan syndrome caused by an FBN1 exon 18 mutation in an Australian Aboriginal family
KM Summers
,
D Xu
,
JA West
,
JJ McGill
,
A Galbraith
,
CM Whight
,
SL Brocque
,
M Nataatmadja
,
LK Kong
,
J Dondey
,
D Stark
,
MJ West
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 317 KB
Your tags:
english, 2004
12
A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel α1A-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine
I Alonso
,
J Barros
,
A Tuna
,
A Seixas
,
P Coutinho
,
J Sequeiros
,
I Silveira
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 78 KB
Your tags:
english, 2004
13
Willingness to donate blood samples for genetic research: a survey from a community in Singapore
ML Wong
,
KS Chia
,
WM Yam
,
GR Teodoro
,
KW Lau
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 98 KB
Your tags:
english, 2004
14
Limb girdle muscular dystrophy: use of dHPLC and direct sequencing to detect sarcoglycan gene mutations in a New Zealand cohort
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 541 KB
Your tags:
english, 2004
15
The dichotomy of causation vs consequence in ID
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 76 KB
Your tags:
english, 2004
16
Genes, screens, and means for advancing the diagnosis and anticipatory care of individuals with congenital intellectual disability
MES Lewis
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 76 KB
Your tags:
english, 2004
17
Unmasking the hidden ID of congenital ID causation
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 76 KB
Your tags:
english, 2004
18
Advocating a gene-based template of care for congenital intellectual disability
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 76 KB
Your tags:
english, 2004
19
The dichotomy of causation vs consequence in ID
Journal:
Clinical Genetics
Year:
2004
Language:
english
File:
PDF, 68 KB
Your tags:
english, 2004
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