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Volume 68; Issue 3
Main
Clinical Genetics
Volume 68; Issue 3
Clinical Genetics
Volume 68; Issue 3
1
Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype–phenotype correlation
S Bernal
,
C Medà
,
T Solans
,
C Ayuso
,
B Garcia-Sandoval
,
D Valverde
,
E Del Rio
,
M Baiget
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 363 KB
Your tags:
english, 2005
2
Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000–2005
BP Brooks
,
R Kleta
,
C Stuart
,
M Tuchman
,
A Jeong
,
SG Stergiopoulos
,
T Bei
,
B Bjornson
,
L Russell
,
J-P Chanoine
,
S Tsagarakis
,
LR Kalsner
,
CA Stratakis
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 95 KB
Your tags:
english, 2005
3
Psychological functioning in African American women at an increased risk of hereditary breast and ovarian cancer
CH Halbert
,
L Kessler
,
A Collier
,
E Paul Wileyto
,
K Brewster
,
B Weathers
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 102 KB
Your tags:
english, 2005
4
‘Indirect’ BRCA1/2 testing. A useful approach in hereditary breast and ovarian cancer families without a living affected relative
DG Cruger
,
TA Kruse
,
AM Gerdes
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 102 KB
Your tags:
english, 2005
5
Novel genomic insertion–deletion in MLH1: possible mechanistic role for non-homologous end-joining DNA repair
S McVety
,
R Younan
,
L Li
,
PH Gordon
,
N Wong
,
WD Foulkes
,
G Chong
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 1.37 MB
Your tags:
english, 2005
6
Sir Archibald Garrod and Alkaptonuria –‘story of metabolic genetics’
C Prasad
,
PA Galbraith
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 5.89 MB
Your tags:
english, 2005
7
A novel locus for autosomal dominant hereditary gingival fibromatosis, GINGF3, maps to chromosome 2p22.3-p23.3
X Ye
,
L Shi
,
Y Cheng
,
Q Peng
,
S Huang
,
J Liu
,
M Huang
,
B Peng
,
Z Bian
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 1.85 MB
Your tags:
english, 2005
8
Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations
EM Fernandez-Valero
,
A Ballart
,
C Iturriaga
,
M Lluch
,
J Macias
,
MT Vanier
,
M Pineda
,
MJ Coll
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 129 KB
Your tags:
english, 2005
9
An exploratory comparison of genetic counselling protocols for HNPCC predictive testing
K Brain
,
S Sivell
,
K Bennert
,
L Howell
,
L France
,
S Jordan
,
MT Rogers
,
J Gray
,
J Sampson
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 104 KB
Your tags:
english, 2005
10
Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2
S Irshad
,
RLP Santos
,
D Muhammad
,
K Lee
,
N McArthur
,
S Haque
,
W Ahmad
,
SM Leal
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 116 KB
Your tags:
english, 2005
11
Silent, but deadly: epigenetic control of ID4 in leukemia
DT Yamashita
,
BR Leavitt
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 747 KB
Your tags:
english, 2005
12
Association of repeat polymorphisms in the estrogen receptors α, β, and androgen receptor genes with knee osteoarthritis
P Fytili
,
E Giannatou
,
V Papanikolaou
,
F Stripeli
,
Th Karachalios
,
K Malizos
,
A Tsezou
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 143 KB
Your tags:
english, 2005
13
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations
SR Sheela
,
M Latha
,
P Liu
,
K Lem
,
SG Kaler
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 342 KB
Your tags:
english, 2005
14
Erratum
Journal:
Clinical Genetics
Year:
2005
File:
PDF, 1.05 MB
Your tags:
2005
15
Syndromic and non-syndromic GLI3 phenotypes
LG Biesecker
,
J Johnston
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 955 KB
Your tags:
english, 2005
16
Response to Biesecker and Johnston
H Fujioka
,
T Ariga
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 955 KB
Your tags:
english, 2005
17
TB or not TB? Ipr1 answers the question
J Pearson
,
BR Leavitt
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 747 KB
Your tags:
english, 2005
18
Got NGF? Promising gene therapy results in Alzheimer's disease
SN Sivananthan
,
BR Leavitt
Journal:
Clinical Genetics
Year:
2005
Language:
english
File:
PDF, 747 KB
Your tags:
english, 2005
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