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Volume 77; Issue 6
Main
Clinical Genetics
Volume 77; Issue 6
Clinical Genetics
Volume 77; Issue 6
1
Novel and recurrent p14ARF mutations in Italian familial melanoma
F Binni
,
I Antigoni
,
P De Simone
,
S Majore
,
V Silipo
,
A Crisi
,
A Amantea
,
D Pacchiarini
,
M Castori
,
C De Bernardo
,
C Catricalà
,
P Grammatico
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 607 KB
Your tags:
english, 2010
2
Germline mosaicism in keratitis–ichthyosis–deafness syndrome: pre-natal diagnosis in a familial lethal form
E Sbidian
,
D Feldmann
,
J Bengoa
,
S Fraitag
,
V Abadie
,
Y De Prost
,
C Bodemer
,
S Hadj-Rabia
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 687 KB
Your tags:
english, 2010
3
Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH
A Lindstrand
,
J Schoumans
,
P Gustavsson
,
N Hanemaaijer
,
H Malmgren
,
E Blennow
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 865 KB
Your tags:
english, 2010
4
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation
MS Hildebrand
,
NP Thorne
,
CJ Bromhead
,
K Kahrizi
,
JA Webster
,
Z Fattahi
,
M Bataejad
,
WJ Kimberling
,
D Stephan
,
H Najmabadi
,
M Bahlo
,
RJH Smith
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 713 KB
Your tags:
english, 2010
5
Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project
A Taylor
,
D Wang
,
K Patel
,
R Whittall
,
G Wood
,
M Farrer
,
RDG Neely
,
S Fairgrieve
,
D Nair
,
M Barbir
,
JL Jones
,
S Egan
,
R Everdale
,
Y Lolin
,
E Hughes
,
JA Cooper
,
SG Hadfield
,
G Norbury
,
SE Humphries
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 581 KB
Your tags:
english, 2010
6
Low predisposition to instability of the Friedreich ataxia gene in Cuban population
T C Mariño
,
Y G Zaldivar
,
J M L Mesa
,
L A Mederos
,
R A Rodríguez
,
D A Gotay
,
R R Labrada
,
N C Ochoa
,
P MacLeod
,
L V Pérez
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 526 KB
Your tags:
english, 2010
7
An unbalanced translocation resulting in a duplication of Xq28 causes a Rett syndrome-like phenotype in a female patient
B Auber
,
P Burfeind
,
C Thiels
,
EA Alsat
,
M Shoukier
,
T Liehr
,
H Nelle
,
I Bartels
,
G Salinas-Riester
,
F Laccone
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 718 KB
Your tags:
english, 2010
8
FOXL2 mutations in Tunisian patients with blepharophimosis–ptosis–epicanthus inversus syndrome
L Kraoua
,
M Chaabouni
,
M Trabelsi
,
I Chelly
,
F Maazoul
,
N Ben Abdallah
,
S Boukthir
,
S Barsaoui
,
H Chaabouni
,
R M’rad
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 503 KB
Your tags:
english, 2010
9
Conquering the complex world of human septins: implications for health and disease
EA Peterson
,
EM Petty
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 865 KB
Your tags:
english, 2010
10
Nexilin: a potential novel factor contributing to dilated cardiomyopathy
S Franciosi
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 547 KB
Your tags:
english, 2010
11
HDAC7: a viable target in the treatment of cystic fibrosis
S Franciosi
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 568 KB
Your tags:
english, 2010
12
De novo nonsense mutations in the sodium channel gene, SCN2A, in sporadic intractable epilepsy
S Franciosi
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 533 KB
Your tags:
english, 2010
13
Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome
B Budny
,
M Badura-Stronka
,
A Materna-Kiryluk
,
A Tzschach
,
M Raynaud
,
A Latos-Bielenska
,
HH Ropers
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 966 KB
Your tags:
english, 2010
14
The Human Phenotype Ontology
PN Robinson
,
S Mundlos
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 1.50 MB
Your tags:
english, 2010
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