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Volume 81; Issue 6
Main
Clinical Genetics
Volume 81; Issue 6
Clinical Genetics
Volume 81; Issue 6
1
Next-generation sequencing: ready for the clinics?
AN Desai
,
A Jere
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 604 KB
Your tags:
english, 2012
2
PTEN in colorectal cancer: a report on two Cowden syndrome patients
R Kersseboom
,
HJ Dubbink
,
WE Corver
,
AJP van Tilburg
,
JW Poley
,
ME van Leerdam
,
PN Atmodimedjo
,
IMBH van de Laar
,
JM Collée
,
WNM Dinjens
,
H Morreau
,
A Wagner
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 1.08 MB
Your tags:
english, 2012
3
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
M Iascone
,
R Ciccone
,
L Galletti
,
D Marchetti
,
F Seddio
,
AR Lincesso
,
L Pezzoli
,
A Vetro
,
D Barachetti
,
L Boni
,
D Federici
,
AM Soto
,
JV Comas
,
P Ferrazzi
,
O Zuffardi
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 1.45 MB
Your tags:
english, 2012
4
Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology
CE Cottrell
,
J Mendell
,
M Hart-Kothari
,
D Ell
,
DL Thrush
,
C Astbury
,
M Pastore
,
JM Gastier-Foster
,
RE Pyatt
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 699 KB
Your tags:
english, 2012
5
Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated
E Chabchoub
,
D Willekens
,
JR Vermeesch
,
J-P Fryns
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 662 KB
Your tags:
english, 2012
6
Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria
SHE Zaidi
,
M Faiyaz-Ul-Haque
,
T Shuaib
,
A Balobaid
,
Z Rahbeeni
,
H Abalkhail
,
A Al-Abdullatif
,
Z Al-Hassnan
,
I Peltekova
,
M Al-Owain
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 654 KB
Your tags:
english, 2012
7
Evidence for disease penetrance relating to CNV size: Pelizaeus–Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22
CMB Carvalho
,
M Bartnik
,
D Pehlivan
,
P Fang
,
J Shen
,
JR Lupski
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 945 KB
Your tags:
english, 2012
8
Fabry disease ‘The New Great Imposter’: results of the French Observatoire in Internal Medicine Departments (FIMeD)
O Lidove
,
P Kaminsky
,
E Hachulla
,
V Leguy-Seguin
,
C Lavigne
,
I Marie
,
F Maillot
,
C Serratrice
,
A Masseau
,
P Chérin
,
J Cabane
,
E Noel
,
on behalf of the FIMeD investigators
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 563 KB
Your tags:
english, 2012
9
Genotype–phenotype correlation in colorectal polyposis
KF Newton
,
EKL Mallinson
,
J Bowen
,
F Lalloo
,
T Clancy
,
J Hill
,
DGR Evans
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 735 KB
Your tags:
english, 2012
10
High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey
S Kalb
,
AO Caglayan
,
A Degerliyurt
,
S Schmid
,
S Ceylaner
,
N Hatipoglu
,
K Hinderhofer
,
H Rehder
,
S Kurtoglu
,
G Ceylaner
,
J Zschocke
,
M Witsch-Baumgartner
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 611 KB
Your tags:
english, 2012
11
Two novel germline KRAS mutations: expanding the molecular and clinical phenotype
Z Stark
,
G Gillessen-Kaesbach
,
MM Ryan
,
IC Cirstea
,
L Gremer
,
MR Ahmadian
,
R Savarirayan
,
M Zenker
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 809 KB
Your tags:
english, 2012
12
Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?
DR Bertola
,
AC Pereira
,
AS Brasil
,
L Suzuki
,
C Leite
,
R Falzoni
,
U Tannuri
,
AB Poplawski
,
KM Janowski
,
CA Kim
,
LM Messiaen
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 646 KB
Your tags:
english, 2012
13
Variant late-infantile neuronal ceroid lipofuscinosis due to a novel heterozygous CLN8 mutation and de novo 8p23.3 deletion
NM Allen
,
B O’hIci
,
G Anderson
,
T Nestor
,
S Ann Lynch
,
MD King
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 743 KB
Your tags:
english, 2012
14
E-genetics: exploring the acceptability and feasibility of using technology in cancer genetics services
J Hilgart
,
JA Hayward
,
R Iredale
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 514 KB
Your tags:
english, 2012
15
Whole-genome sequencing and the physician
A Thorogood
,
BM Knoppers
,
WJ Dondorp
,
GMWR de Wert
Journal:
Clinical Genetics
Year:
2012
Language:
english
File:
PDF, 479 KB
Your tags:
english, 2012
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