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Volume 68; Issue 1
Main
Clinical Genetics
Volume 68; Issue 1
Clinical Genetics
Volume 68; Issue 1
1
Mutation analysis of Wilson disease in the Spanish population – identification of a prevalent substitution and eight novel mutations in the ATP7B gene
E Margarit
,
V Bach
,
D Gómez
,
M Bruguera
,
P Jara
,
R Queralt
,
F Ballesta
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 838 KB
Your tags:
english, 2005
2
Inhibin A is a maternal serum marker for Down's syndrome early in the first trimester
M Christiansen
,
B Nørgaard-Pedersen
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 121 KB
Your tags:
english, 2005
3
De novoα-actin mutations in monozygotic twins
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 61 KB
Your tags:
english, 2005
4
Living with Marfan syndrome: coping with stigma
KF Peters
,
KA Apse
,
A Blackford
,
B McHugh
,
D Michalic
,
BB Biesecker
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 125 KB
Your tags:
english, 2005
5
LMNA mutation position predicts organ system involvement in laminopathies
RA Hegele
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 329 KB
Your tags:
english, 2005
6
Is reduced CAG repeat length in androgen receptor gene associated with risk of prostate cancer in Indian population?
DK Mishra
,
K Thangaraj
,
A Mandhani
,
A Kumar
,
RD Mittal
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 103 KB
Your tags:
english, 2005
7
Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland
A Ługowska
,
J Berger
,
A Tylki-Szymańska
,
B Löschl
,
B Molzer
,
M Zobel
,
B Czartoryska
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 119 KB
Your tags:
english, 2005
8
Chromosomal changes in prostate cancer: A fluorescence in situ hybridization study
K Das
,
W Lau
,
CR Sivaswaren
,
Tan PH
,
SMC Fook-Chong
,
Tien SL
,
C Cheng
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 2.22 MB
Your tags:
english, 2005
9
Simultaneous identification of chromosomes 18, X and Y in uncultured amniocytes by using multi-primed in situ labelling technique
M Gadji
,
K Krabchi
,
R Drouin
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 427 KB
Your tags:
english, 2005
10
DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy
SA Hamed
,
AJ Sutherland-Smith
,
JRM Gorospe
,
J Kendrick-Jones
,
EP Hoffman
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 1.24 MB
Your tags:
english, 2005
11
Osteopenia and osteoporosis: previously unrecognized manifestations of Fabry disease
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 75 KB
Your tags:
english, 2005
12
Frequency of hereditary non-polyposis colorectal cancer among Uruguayan patients with colorectal cancer
C Sarroca
,
A Della Valle
,
R Fresco
,
E Renkonen
,
P Peltömaki
,
HT Lynch
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 132 KB
Your tags:
english, 2005
13
A CFTR mutation (D1152H) in a family with mild lung disease and normal sweat chlorides
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 74 KB
Your tags:
english, 2005
14
Detection of hemizygosity in Hermansky – Pudlak syndrome by quantitative real-time PCR
AE Griffin
,
BR Cobb
,
PD Anderson
,
DA Claassen
,
A Helip-Wooley
,
M Huizing
,
WA Gahl
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 1.34 MB
Your tags:
english, 2005
15
Expressing the nature of quantitative traits
SM Clee
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 900 KB
Your tags:
english, 2005
16
Expressing the nature of quantitative traits
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 900 KB
Your tags:
english, 2005
17
Expressing the nature of quantitative traits
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 900 KB
Your tags:
english, 2005
18
Expressing the nature of quantitative traits
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 900 KB
Your tags:
english, 2005
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