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Volume 78; Issue 2
Main
Clinical Genetics
Volume 78; Issue 2
Clinical Genetics
Volume 78; Issue 2
1
Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome
M Menéndez
,
S Castellví-Bel
,
M Pineda
,
R De Cid
,
J Muñoz
,
S González
,
À Teulé
,
F Balaguer
,
T Ramón y Cajal
,
Josep M. Reñé
,
I Blanco
,
A Castells
,
G Capellà
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 566 KB
Your tags:
english, 2010
2
Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis
LE Almaguer-Mederos
,
NS Falcón
,
YR Almira
,
YG Zaldivar
,
DC Almarales
,
EM Góngora
,
MP Herrera
,
KE Batallán
,
RR Armiñán
,
MV Manresa
,
GS Cruz
,
J Laffita-Mesa
,
TM Cyuz
,
V Chang
,
G Auburger
,
S Gispert
,
LV
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 585 KB
Your tags:
english, 2010
3
Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients
B Lakhal
,
R Braham
,
R Berguigua
,
N Bouali
,
M Zaouali
,
M Chaieb
,
RA Veitia
,
A Saad
,
H Elghezal
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 558 KB
Your tags:
english, 2010
4
Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency on l-carnitine supplementation
K Sarafoglou
,
AHC Tridgell
,
K Bentler
,
K Redlinger-Grosse
,
SA Berry
,
LA Schimmenti
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 502 KB
Your tags:
english, 2010
5
De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features
P Makrythanasis
,
I Moix
,
S Gimelli
,
J Fluss
,
K Aliferis
,
SE Antonarakis
,
MA Morris
,
F Béna
,
A Bottani
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 791 KB
Your tags:
english, 2010
6
Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2
S Alliman
,
J Coppinger
,
J Marcadier
,
H Thiese
,
P Brock
,
S Shafer
,
C Weaver
,
A Asamoah
,
K Leppig
,
S Dyack
,
B Morash
,
R Schultz
,
BS Torchia
,
AN Lamb
,
BA Bejjani
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 637 KB
Your tags:
english, 2010
7
Delineation of 15q13.3 microdeletions
A Masurel-Paulet
,
J Andrieux
,
P Callier
,
JM Cuisset
,
C Le Caignec
,
M Holder
,
C Thauvin-Robinet
,
B Doray
,
E Flori
,
MP Alex-Cordier
,
M Beri
,
O Boute
,
B Delobel
,
A Dieux
,
L Vallee
,
S Jaillard
,
S Odent
,
B
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 718 KB
Your tags:
english, 2010
8
Gaucher disease: frequency of the N370S mutation in the Greek population
E Dimitriou
,
M Moraitou
,
C Troungos
,
K Schulpis
,
H Michelakakis
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 482 KB
Your tags:
english, 2010
9
Osteoglophonic dysplasia: A ‘common’ mutation in a rare disease
AJ Sow
,
R Ramli
,
ZA Latiff
,
S Ichikawa
,
AK Gray
,
R Nordin
,
MN Abd Jabar
,
SHA Primuharsa Putra
,
CH Siar
,
MJ Econs
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 501 KB
Your tags:
english, 2010
10
Autosomal recessive LMNA mutation causing Restrictive Dermopathy
GJ Youn
,
M Uzunyan
,
L Vachon
,
J Johnson
,
TL Winder
,
S Yano
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 493 KB
Your tags:
english, 2010
11
Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China
F Xiong
,
M Sun
,
X Zhang
,
R Cai
,
Y Zhou
,
J Lou
,
L Zeng
,
Q Sun
,
Q Xiao
,
X Shang
,
X Wei
,
T Zhang
,
P Chen
,
X Xu
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 747 KB
Your tags:
english, 2010
12
Genetic factors in non-syndromic congenital heart malformations
MW Wessels
,
PJ Willems
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 629 KB
Your tags:
english, 2010
13
Exome sequencing: expanding the genetic testing toolbox
CE Kobelka
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 557 KB
Your tags:
english, 2010
14
Don't change that (calcium) channel: mutations in the same calcium channel gene can cause multiple distinct phenotypes
JN Sawkins
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 494 KB
Your tags:
english, 2010
15
‘Kir’-ing thyrotoxic periodic paralysis
MH Kang
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 480 KB
Your tags:
english, 2010
16
Evaluation of phone-based genetic counselling in African American women using culturally tailored visual aids
T Pal
,
C Stowe
,
A Cole
,
J-H Lee
,
X Zhao
,
S Vadaparampil
Journal:
Clinical Genetics
Year:
2010
Language:
english
File:
PDF, 529 KB
Your tags:
english, 2010
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