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Volume 79; Issue 4
Main
Clinical Genetics
Volume 79; Issue 4
Clinical Genetics
Volume 79; Issue 4
1
Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches
A Drousiotou
,
I DiMeo
,
R Mineri
,
Th Georgiou
,
G Stylianidou
,
V Tiranti
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 553 KB
Your tags:
english, 2011
2
Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance
M Al-Owain
,
N Kaya
,
H Al-Zaidan
,
N Al-Hashmi
,
A Al-Bakheet
,
M Al-Muhaizea
,
A Chedrawi
,
RK Basran
,
A Milunsky
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 673 KB
Your tags:
english, 2011
3
Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly
J Albuisson
,
B Isidor
,
M Giraud
,
O Pichon
,
T Marsaud
,
A David
,
C Le Caignec
,
S Bezieau
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 994 KB
Your tags:
english, 2011
4
Autism severity is associated with child and maternal MAOA genotypes
IL Cohen
,
X Liu
,
MES Lewis
,
A Chudley
,
C Forster-Gibson
,
M Gonzalez
,
EC Jenkins
,
WT Brown
,
JJA Holden
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 601 KB
Your tags:
english, 2011
5
Constitutional FLCN mutations in patients with suspected Birt–Hogg–Dubé syndrome ascertained for non-cutaneous manifestations
A Maffé
,
B Toschi
,
G Circo
,
D Giachino
,
S Giglio
,
A Rizzo
,
A Carloni
,
V Poletti
,
S Tomassetti
,
C Ginardi
,
S Ungari
,
M Genuardi
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 600 KB
Your tags:
english, 2011
6
Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II
K-E Lee
,
H-Y Kang
,
S-K Lee
,
S-H Yoo
,
J-C Lee
,
Y-H Hwang
,
KH Nam
,
J-S Kim
,
J-C Park
,
J-W Kim
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 1.08 MB
Your tags:
english, 2011
7
PRKCSH GAG trinucleotide repeat is a mutational target in gastric carcinomas with high-level microsatellite instability
R Palmirotta
,
F Guadagni
,
A Savonarola
,
G Ludovici
,
ML De Marchis
,
D Palli
,
M Falchetti
,
L Ottini
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 480 KB
Your tags:
english, 2011
8
Response to Palmirotta et al.: The frequency of the PRKCSH GAG trinucleotide repeat in PCLD patients
E Waanders
,
MJ Janssen
,
JPH Drenth
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 471 KB
Your tags:
english, 2011
9
Chromosome 8p23.2-pter: a critical region for mental retardation, autism and epilepsy?
A Nucaro
,
T Pisano
,
I Chillotti
,
C Montaldo
,
D Pruna
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 518 KB
Your tags:
english, 2011
10
Response to Nucaro et al.
S S-F Gau
,
C-H Chen
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 463 KB
Your tags:
english, 2011
11
SETBP1 mutations in two Thai patients with Schinzel–Giedion syndrome
K Suphapeetiporn
,
C Srichomthong
,
V Shotelersuk
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 710 KB
Your tags:
english, 2011
12
Nature and nurture: the complex genetics of myopia and refractive error
R Wojciechowski
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 872 KB
Your tags:
english, 2011
13
Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis
J McDonald
,
K Damjanovich
,
A Millson
,
W Wooderchak
,
JM Chibuk
,
DA Stevenson
,
F Gedge
,
P Bayrak-Toydemir
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 636 KB
Your tags:
english, 2011
14
Colonoscopy use following mutation detection in Lynch syndrome: exploring a role for cancer screening in adaptation
DW Hadley
,
S Ashida
,
JF Jenkins
,
KA Calzone
,
IR Kirsch
,
LM Koehly
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 520 KB
Your tags:
english, 2011
15
Unraveling the genetic and molecular basis of posterior column ataxia and retinitis pigmentosa
LM Sutton
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 538 KB
Your tags:
english, 2011
16
Exploring the genetic origins of Treacher Collins syndrome
E Fisher
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 496 KB
Your tags:
english, 2011
17
A specific subtype of Infantile Parkinsonism-dystonia identified
E Fisher
Journal:
Clinical Genetics
Year:
2011
Language:
english
File:
PDF, 743 KB
Your tags:
english, 2011
18
Erratum
Journal:
Clinical Genetics
Year:
2011
File:
PDF, 456 KB
Your tags:
2011
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