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Volume 77; Issue 4
Main
Clinical Genetics
Volume 77; Issue 4
Clinical Genetics
Volume 77; Issue 4
1
Non-classic cystic fibrosis associated with D1152H CFTR mutation
P-R Burgel
,
I Fajac
,
D Hubert
,
D Grenet
,
N Stremler
,
M Roussey
,
D Siret
,
J Languepin
,
L Mely
,
A Fanton
,
A Labbé
,
P Domblides
,
P Vic
,
M Dagorne
,
M Reynaud-Gaubert
,
F Counil
,
F Varaigne
,
T Bienvenu
,
G B
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 562 KB
Your tags:
english, 2010
2
Treatment-focused DNA testing for newly diagnosed breast cancer patients: some implications for clinical practice
EA Lobb
,
K Barlow-Stewart
,
G Suthers
,
N Hallowell
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 502 KB
Your tags:
english, 2010
3
Co-occurring diagnoses among FMR1 premutation allele carriers
JE Hunter
,
JK Rohr
,
SL Sherman
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 525 KB
Your tags:
english, 2010
4
DISC1 duplication in two brothers with autism and mild mental retardation
A Crepel
,
J Breckpot
,
J-P Fryns
,
W De la Marche
,
J Steyaert
,
K Devriendt
,
H Peeters
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 563 KB
Your tags:
english, 2010
5
Experts' opinions on ethical issues of genetic research into Alzheimer's disease: results of a Delphi study in the Netherlands
A Van Der Vorm
,
AL Van Der Laan
,
G Borm
,
M Vernooij-Dassen
,
M Olde Rikkert
,
E Van Leeuwen
,
W Dekkers
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 515 KB
Your tags:
english, 2010
6
Risk-reducing mastectomy and salpingo-oophorectomy in unaffected BRCA mutation carriers: uptake and timing
A-B Skytte
,
A-M Gerdes
,
MK Andersen
,
L Sunde
,
K Brøndum-Nielsen
,
M Waldstrøm
,
S Kølvraa
,
D Crüger
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 544 KB
Your tags:
english, 2010
7
Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development
R Moslehi
,
C Signore
,
D Tamura
,
JL Mills
,
JJ DiGiovanna
,
MA Tucker
,
J Troendle
,
T Ueda
,
J Boyle
,
SG Khan
,
K-S Oh
,
AM Goldstein
,
KH Kraemer
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 528 KB
Your tags:
english, 2010
8
A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus
T Yang
,
K Kahrizi
,
N Bazazzadeghan
,
N Meyer
,
H Najmabadi
,
RJH Smith
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 693 KB
Your tags:
english, 2010
9
Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families
DK Bartsch
,
P Langer
,
N Habbe
,
E Matthäi
,
B Chaloupka
,
M Sina
,
SA Hahn
,
EP Slater
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 546 KB
Your tags:
english, 2010
10
Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome
JF Mazzeu
,
AM Vianna-Morgante
,
ACV Krepischi
,
A Oudakker
,
C Rosenberg
,
K Szuhai
,
J McGill
,
J MacCraughan
,
H Van Bokhoven
,
HG Brunner
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 534 KB
Your tags:
english, 2010
11
The Trp117Arg mutation of the COCH gene causes deafness in Koreans
J-I Baek
,
H-J Cho
,
S-J Choi
,
L-S Kim
,
C Zhao
,
BR Sagong
,
U-K Kim
,
S-W Jeong
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 713 KB
Your tags:
english, 2010
12
SCN9A: another sodium channel excited to play a role in human epilepsies
CN Doty
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 81 KB
Your tags:
english, 2010
13
Taking a SUMO off a TRP for bad conduct
MA Pouladi
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 62 KB
Your tags:
english, 2010
14
Genome-wide association studies identify new interesting loci for late-onset Alzheimer's disease
N Skotte
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 133 KB
Your tags:
english, 2010
15
microRNAs in diseases: from candidate to modifier genes
S Bandiera
,
E Hatem
,
S Lyonnet
,
A Henrion-Caude
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 556 KB
Your tags:
english, 2010
16
Erratum
Journal:
Clinical Genetics
Year:
2010
File:
PDF, 461 KB
Your tags:
2010
17
Claudins: unlocking the code to tight junction function during embryogenesis and in disease
IR Gupta
,
AK Ryan
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 730 KB
Your tags:
english, 2010
18
Announcement
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 474 KB
Your tags:
english, 2010
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