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Volume 68; Issue 5
Main
Clinical Genetics
Volume 68; Issue 5
Clinical Genetics
Volume 68; Issue 5
1
Analysis of PINK1 in Asian patients with familial parkinsonism
EK Tan
,
K Yew
,
E Chua
,
H Shen
,
RD Jamora
,
E Lee
,
KY Puong
,
Y Zhao
,
R Pavanni
,
MC Wong
,
K Puvan
,
Y Yih
,
LCS Tan
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 320 KB
Your tags:
english, 2005
2
Mapping of an autosomal dominant gene for Dupuytren's contracture to chromosome 16q in a Swedish family
FZ Hu
,
A Nystrom
,
A Ahmed
,
M Palmquist
,
R Dopico
,
I Mossberg
,
J Gladitz
,
M Rayner
,
JC Post
,
GD Ehrlich
,
RA Preston
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 121 KB
Your tags:
english, 2005
3
Subtelomeric chromosome aberrations: still a lot to learn
U Moog
,
YHJM Arens
,
JCM Van Lent-Albrechts
,
PEA Huijts
,
EEJ Smeets
,
CTRM Schrander-Stumpel
,
JJM Engelen
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 951 KB
Your tags:
english, 2005
4
Discrepancies in upper and lower limb patterning in split hand foot malformation
AM Elliott
,
MH Reed
,
T Roscioli
,
JA Evans
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 743 KB
Your tags:
english, 2005
5
Recurrent trisomy 21: four cases in three generations
JL Gair
,
L Arbour
,
R Rupps
,
R Jiang
,
H Bruyère
,
WP Robinson
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 595 KB
Your tags:
english, 2005
6
Frequency of truly cryptic subtelomere abnormalities – a study of 534 patients and literature review
S Yu
,
E Baker
,
L Hinton
,
HJ Eyre
,
W Waters
,
S Higgins
,
GR Sutherland
,
E Haan
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 87 KB
Your tags:
english, 2005
7
Expansion of an intermediate allele of the FMR1 gene in only two generations
A Zuñiga
,
J Juan
,
M Mila
,
A Guerrero
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 68 KB
Your tags:
english, 2005
8
Recent insights into the Smith–Lemli–Opitz syndrome
H Yu
,
SB Patel
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 138 KB
Your tags:
english, 2005
9
Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population
T Todorov
,
A Savov
,
H Jelev
,
E Panteleeva
,
D Konstantinova
,
Z Krustev
,
V Mihaylova
,
I Tournev
,
L Tankova
,
N Tzolova
,
I Kremensky
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 67 KB
Your tags:
english, 2005
10
Allelic heterogeneity of the carbohydrate sulfotransferase-6 gene in patients with macular corneal dystrophy
A Sultana
,
M S Sridhar
,
G K Klintworth
,
D Balasubramanian
,
C Kannabiran
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 277 KB
Your tags:
english, 2005
11
Attenuated familial adenomatous polyposis and Muir–Torre syndrome linked to compound biallelic constitutional MYH gene mutations
G Ponti
,
M Ponz de Leon
,
S Maffei
,
M Pedroni
,
L Losi
,
C Di Gregorio
,
V Gismondi
,
A Scarselli
,
P Benatti
,
B Roncari
,
S Seidenari
,
G Pellacani
,
C Varotti
,
E Prete
,
L Varesco
,
L Roncucci
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 1.49 MB
Your tags:
english, 2005
12
Evidence for deletion of 9q as a two-step process in chronic myeloid leukemia
C Rudduck-Sivaswaren
,
S-L Tien
,
P Lim
,
E Lim
,
DKH Lie
,
PHC Tan
,
ASG Lee
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 452 KB
Your tags:
english, 2005
13
Genetic diagnosis of PLP gene duplications/deletions in patients with Pelizaeus–Merzbacher disease
Q Gao
,
VC Thurston
,
GH Vance
,
SR Dlouhy
,
ME Hodes
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 72 KB
Your tags:
english, 2005
14
Taking out the trash: dynein mutations in autophagy and neurodegenerative disorders
Y Bombard
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 220 KB
Your tags:
english, 2005
15
Genetic screening for colon cancer
JR Helm
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 220 KB
Your tags:
english, 2005
16
The association between SNPs in the MHC2TA promoter and immune-related human diseases
M Kang
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 220 KB
Your tags:
english, 2005
17
An analysis of PAX1 in the development of vertebral malformations
PF Giampietro
,
CL Raggio
,
CE Reynolds
,
SK Shukla
,
E McPherson
,
N Ghebranious
,
FS Jacobsen
,
V Kumar
,
T Faciszewski
,
RM Pauli
,
K Rasmussen
,
JK Burmester
,
C Zaleski
,
S Merchant
,
D David
,
JL Weber
,
I Glur
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 568 KB
Your tags:
english, 2005
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