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Volume 79; Issue 3
Main
Clinical Genetics
Volume 79; Issue 3
Clinical Genetics
Volume 79; Issue 3
1
Functional analysis of splicing mutations in MYO7A and USH2A genes
T Jaijo
,
E Aller
,
MJ Aparisi
,
G García-García
,
I Hernan
,
MJ Gamundi
,
C Nájera
,
M Carballo
,
JM Millán
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 645 KB
Your tags:
english, 2011
2
Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees
S Basit
,
A Wali
,
A Aziz
,
N Muhammad
,
M Jelani
,
W Ahmad
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 683 KB
Your tags:
english, 2011
3
RUNX2 analysis of Danish cleidocranial dysplasia families
L Hansen
,
AK Riis
,
A Silahtaroglu
,
H Hove
,
E Lauridsen
,
H Eiberg
,
S Kreiborg
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 682 KB
Your tags:
english, 2011
4
Clinical features and X-inactivation in females heterozygous for creatine transporter defect
JM van de Kamp
,
GMS Mancini
,
PJW Pouwels
,
OT Betsalel
,
SJM van Dooren
,
I de Koning
,
ME Steenweg
,
C Jakobs
,
MS van der Knaap
,
GS Salomons
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 644 KB
Your tags:
english, 2011
5
Twenty-five novel mutations including duplications in the ATP7A gene
M-P Moizard
,
N Ronce
,
S Blesson
,
E Bieth
,
L Burglen
,
C Mignot
,
I Mortemousque
,
N Marmin
,
B Dessay
,
C Danesino
,
F Feillet
,
P Castelnau
,
A Toutain
,
C Moraine
,
M Raynaud
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 644 KB
Your tags:
english, 2011
6
Response to Satgé and Vekemans
K. Pussegoda
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 463 KB
Your tags:
english, 2011
7
Down syndrome patients are less likely to develop some (but not all) malignant solid tumours
Daniel Satgé
,
Michel Vekemans
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 470 KB
Your tags:
english, 2011
8
PRRX1 is mutated in a fetus with agnathia-otocephaly
C Sergi
,
D Kamnasaran
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 653 KB
Your tags:
english, 2011
9
Evolutionary evidence of the effect of rare variants on disease etiology
IP Gorlov
,
OY Gorlova
,
ML Frazier
,
MR Spitz
,
CI Amos
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 741 KB
Your tags:
english, 2011
10
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly
BWM van Bon
,
A Hoischen
,
J Hehir-Kwa
,
APM de Brouwer
,
C Ruivenkamp
,
ACJ Gijsbers
,
CL Marcelis
,
N de Leeuw
,
JA Veltman
,
HG Brunner
,
BBA de Vries
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 698 KB
Your tags:
english, 2011
11
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males
D Germanaud
,
M Rossi
,
G Bussy
,
D Gérard
,
L Hertz-Pannier
,
P Blanchet
,
H Dollfus
,
F Giuliano
,
V Bennouna-Greene
,
P Sarda
,
S Sigaudy
,
A Curie
,
MC Vincent
,
R Touraine
,
V des Portes
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 1.84 MB
Your tags:
english, 2011
12
Duchenne/Becker muscular dystrophy in the family: have potential carriers been tested at a molecular level?
ATJM Helderman-van den Enden
,
JC van den Bergen
,
MH Breuning
,
JJGM Verschuuren
,
A Tibben
,
E Bakker
,
HB Ginjaar
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 544 KB
Your tags:
english, 2011
13
Perceiving cancer-risks and heredity-likelihood in genetic-counseling: how counselees recall and interpret BRCA 1/2-test results
J Vos
,
JC Oosterwijk
,
E Gómez-García
,
FH Menko
,
AM Jansen
,
RD Stoel
,
CJ van Asperen
,
A Tibben
,
AM Stiggelbout
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 607 KB
Your tags:
english, 2011
14
Mutations in NMDA receptors influence neurodevelopmental disorders causing epilepsy and intellectual disability
M Metzler
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 542 KB
Your tags:
english, 2011
15
Disturbances in endocannabinoid metabolism causes autosomal recessive neurodegeneration
M Metzler
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 85 KB
Your tags:
english, 2011
16
Mutations in a novel cilia–centrosome protein cause a cystic kidney disease associated with retinal degeneration
M Metzler
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 133 KB
Your tags:
english, 2011
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