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Volume 74; Issue 2
Main
Clinical Genetics
Volume 74; Issue 2
Clinical Genetics
Volume 74; Issue 2
1
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure
B Schüle
,
DD Armstrong
,
H Vogel
,
A Oviedo
,
U Francke
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 866 KB
Your tags:
english, 2008
2
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2)
M Jelani
,
N Wasif
,
G Ali
,
MS Chishti
,
W Ahmad
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 321 KB
Your tags:
english, 2008
3
Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes
FH Menko
,
CMF Kneepkens
,
N De Leeuw
,
EAJ Peeters
,
L Van Maldergem
,
EJ Kamsteeg
,
R Davidson
,
L Rozendaal
,
CA Lasham
,
CMP Peeters-Scholte
,
MC Jansweijer
,
Y Hilhorst-Hofstee
,
JJP Gille
,
YM Heins
,
AWM Nie
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 580 KB
Your tags:
english, 2008
4
Progress toward cell-directed therapy for phenylketonuria
CO Harding
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 265 KB
Your tags:
english, 2008
5
Autism-associated familial microdeletion of Xp11.22
Y Qiao
,
X Liu
,
C Harvard
,
MJ Hildebrand
,
E Rajcan-Separovic
,
JJA Holden
,
MES Lewis
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 327 KB
Your tags:
english, 2008
6
Detection of a significant association between mutations in the ACVRL1 gene and hepatic involvement in German patients with hereditary haemorrhagic telangiectasia
K Brakensiek
,
H Frye-Boukhriss
,
M Mälzer
,
M Abramowicz
,
MJ Bahr
,
N Von Beckerath
,
C Bergmann
,
M Caselitz
,
E Holinski-Feder
,
P Muschke
,
K Oexle
,
G Strobl-Wildemann
,
G Wolff
,
EA El-Harith
,
M Stuhrmann
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 103 KB
Your tags:
english, 2008
7
Mutation analysis of the FLCN gene in Chinese patients with sporadic and familial isolated primary spontaneous pneumothorax
H-Z Ren
,
C-C Zhu
,
C Yang
,
S-L Chen
,
J Xie
,
Y-Y Hou
,
Z-F Xu
,
D-J Wang
,
D-K Mu
,
D-H Ma
,
Y Wang
,
M-H Ye
,
Z-R Ye
,
B-F Chen
,
C-G Wang
,
J Lin
,
D Qiao
,
L Yi
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 269 KB
Your tags:
english, 2008
8
Genetic variations in the leptin and leptin receptor genes are associated with type 2 diabetes mellitus and metabolic traits in the Korean female population
HR Han
,
H-J Ryu
,
HS Cha
,
MJ Go
,
Y Ahn
,
BK Koo
,
YM Cho
,
HK Lee
,
NH Cho
,
C Shin
,
HD Shin
,
K Kimm
,
H-L Kim
,
B Oh
,
KS Park
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 237 KB
Your tags:
english, 2008
9
Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene
MF Coutinho
,
L Lacerda
,
MJ Prata
,
H Ribeiro
,
L Lopes
,
C Ferreira
,
S Alves
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 70 KB
Your tags:
english, 2008
10
Cathepsin S genotypes are associated with Apo-A1 and HDL-cholesterol in lean and obese French populations
N Spielmann
,
DM Mutch
,
F Rousseau
,
F Tores
,
J Hager
,
S Bertrais
,
A Basdevant
,
P Tounian
,
B Dubern
,
P Galan
,
K Clément
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 208 KB
Your tags:
english, 2008
11
Laminopathies in Russian families
GE Rudenskaya
,
AV Polyakov
,
SM Tverskaya
,
EV Zaklyazminskaya
,
AL Chukhrova
,
OE Groznova
,
EK Ginter
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 205 KB
Your tags:
english, 2008
12
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
F Brancati
,
L Travaglini
,
D Zablocka
,
E Boltshauser
,
P Accorsi
,
G Montagna
,
JL Silhavy
,
G Barrano
,
E Bertini
,
F Emma
,
L Rigoli
,
The International JSRD Study Group
,
B Dallapiccola
,
JG Gleeson
,
EM Valen
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 149 KB
Your tags:
english, 2008
13
Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families
M Faiyaz-Ul-Haque
,
SHE Zaidi
,
AA Wahab
,
A Eltohami
,
MS Al-Mureikhi
,
G Al-Thani
,
VD Peltekova
,
L-C Tsui
,
AS Teebi
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 545 KB
Your tags:
english, 2008
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