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Volume 73; Issue 6
Main
Clinical Genetics
Volume 73; Issue 6
Clinical Genetics
Volume 73; Issue 6
1
The epigenetic origins of mental retardation
ME Grant
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 69 KB
Your tags:
english, 2008
2
Loss of dynamic histone regulation underlies mental retardation
ME Grant
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 105 KB
Your tags:
english, 2008
3
DNA methylation and mental retardation
ME Grant
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 84 KB
Your tags:
english, 2008
4
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings
Y Miyoshi
,
M Akagi
,
AK Agarwal
,
N Namba
,
K Kato-Nishimura
,
I Mohri
,
M Yamagata
,
S Nakajima
,
S Mushiake
,
M Shima
,
RJ Auchus
,
M Taniike
,
A Garg
,
K Ozono
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 643 KB
Your tags:
english, 2008
5
First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement
L Sztriha
,
C Panzeri
,
R Kálmánchey
,
N Szabó
,
E Endreffy
,
S Túri
,
C Baschirotto
,
N Bresolin
,
Z Vekerdy
,
MT Bassi
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 160 KB
Your tags:
english, 2008
6
Cytogenetic and molecular characterization of a three-generation family with chromosome 5p terminal deletion
J-S Fang
,
K-F Lee
,
C-T Huang
,
C-L Syu
,
K-J Yang
,
L-H Wang
,
D-L Liao
,
C-H Chen
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 408 KB
Your tags:
english, 2008
7
Mowat–Wilson syndrome: an underdiagnosed syndrome?
E Engenheiro
,
RS Møller
,
M Pinto
,
G Soares
,
M Nikanorova
,
IM Carreira
,
R Ullmann
,
N Tommerup
,
Z Tümer
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 230 KB
Your tags:
english, 2008
8
Genomic and functional analyses of MUTYH in Japanese patients with adenomatous polyposis
R Yanaru-Fujisawa
,
T Matsumoto
,
Y Ushijima
,
M Esaki
,
M Hirahashi
,
M Gushima
,
T Yao
,
Y Nakabeppu
,
M Iida
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 340 KB
Your tags:
english, 2008
9
Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing
JC Defesche
,
EJM Schuurman
,
LN Klaaijsen
,
KL Khoo
,
A Wiegman
,
AFH Stalenhoef
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 280 KB
Your tags:
english, 2008
10
Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23
M Stuhrmann
,
HC Hennies
,
IA Bukhari
,
K Brakensiek
,
G Nürnberg
,
C Becker
,
J Huebener
,
MC Miranda
,
H Frye-Boukhriss
,
S Knothe
,
J Schmidtke
,
E-HA El-Harith
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 422 KB
Your tags:
english, 2008
11
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia
M Tekin
,
H Öztürkmen Akay
,
S Fitoz
,
S Birnbaum
,
FB Cengiz
,
L Sennaroğlu
,
A İncesulu
,
EB Yüksel Konuk
,
A Hasanefendioğlu Bayrak
,
S Şentürk
,
İ Cebeci
,
GE Ütine
,
E Tunçbilek
,
WE Nance
,
D Duman
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 797 KB
Your tags:
english, 2008
12
Genetic factors in congenital heart malformation
G Andelfinger
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 937 KB
Your tags:
english, 2008
13
The skeletal manifestations of the congenital disorders of glycosylation
D Coman
,
M Irving
,
P Kannu
,
J Jaeken
,
R Savarirayan
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 131 KB
Your tags:
english, 2008
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