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Volume 77; Issue 5
Main
Clinical Genetics
Volume 77; Issue 5
Clinical Genetics
Volume 77; Issue 5
1
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency
E Quintana
,
L Gort
,
C Busquets
,
A Navarro-Sastre
,
W Lissens
,
S Moliner
,
M Lluch
,
MA Vilaseca
,
L De Meirleir
,
A Ribes
,
P Briones
,
PDH Working Group
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 620 KB
Your tags:
english, 2010
2
Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age–a sibling control study
JJ McGill
,
AC Inwood
,
DJ Coman
,
ML Lipke
,
D De Lore
,
SJ Swiedler
,
JJ Hopwood
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 600 KB
Your tags:
english, 2010
3
Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome
S-C Chao
,
J-S Chen
,
C-H Tsai
,
JY-M Lin
,
Y-J Lin
,
HS Sun
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 921 KB
Your tags:
english, 2010
4
Prenatal diagnosis of Duchenne muscular dystrophy by comparative genomic hybridization
M Bovolenta
,
P Rimessi
,
B Dolcini
,
A Ravani
,
A Ferlini
,
F Gualandi
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 699 KB
Your tags:
english, 2010
5
Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations
JM Drijvers
,
DJ Lefeber
,
SA De Munnik
,
R Pfundt
,
N Van De Leeuw
,
C Marcelis
,
C Thiel
,
C Koerner
,
RA Wevers
,
E Morava
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 539 KB
Your tags:
english, 2010
6
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
R Dorfman
,
T Nalpathamkalam
,
C Taylor
,
T Gonska
,
K Keenan
,
XW Yuan
,
M Corey
,
L-C Tsui
,
J Zielenski
,
P Durie
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 633 KB
Your tags:
english, 2010
7
A marker associated with increased risk for severe liver disease in cystic fibrosis
W De Haan
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 498 KB
Your tags:
english, 2010
8
A folate receptor defect that causes treatable neurological disorder in children
W De Haan
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 499 KB
Your tags:
english, 2010
9
Lipodystrophy and muscular dystrophy caused by PTRF mutations
W De Haan
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 559 KB
Your tags:
english, 2010
10
Pink-creamy whole blood in a 3-month-old infant with a homozygous deletion in the lipoprotein lipase gene
HJ Avis
,
HJ Scheffer
,
JJP Kastelein
,
GM Dallinga-Thie
,
FA Wijburg
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 606 KB
Your tags:
english, 2010
11
Psychosocial impact of Von Hippel–Lindau disease: levels and sources of distress
CRM Lammens
,
EMA Bleiker
,
S Verhoef
,
FJ Hes
,
MGEM Ausems
,
D Majoor-Krakauer
,
RH Sijmons
,
RB Van Der Luijt
,
AMW Van Den Ouweland
,
Tam Van Os
,
N Hoogerbrugge
,
EB Gómez García
,
CJ Dommering
,
CM Gundy
,
NK
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 552 KB
Your tags:
english, 2010
12
Clinical and molecular aspects of aniridia
H Kokotas
,
MB Petersen
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 603 KB
Your tags:
english, 2010
13
A new classification system for primary lymphatic dysplasias based on phenotype
F Connell
,
G Brice
,
S Jeffery
,
V Keeley
,
P Mortimer
,
S Mansour
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 1.11 MB
Your tags:
english, 2010
14
Genetics professionals' experiences with grief and loss: implications for support and training
G Geller
,
CH Rushton
,
C Francomano
,
K Kolodner
,
BA Bernhardt
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 543 KB
Your tags:
english, 2010
15
Heterozygous 5p13.3-13.2 deletion in a patient with type I Chiari malformation and bilateral Duane retraction syndrome
F Bayrakli
,
K Bilguvar
,
D Ceyhan
,
AG Ercan-Sencicek
,
T Cankaya
,
S Bayrakli
,
I Guney
,
SM Mane
,
MW State
,
M Gunel
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 639 KB
Your tags:
english, 2010
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