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Volume 72; Issue 2
Main
Clinical Genetics
Volume 72; Issue 2
Clinical Genetics
Volume 72; Issue 2
1
Fidelity of whole-genome amplification of blood spot DNA for HLA typing and SNP analyses
KK Singh
,
SA Spector
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 115 KB
Your tags:
english, 2007
2
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability
A Delahaye
,
Y Sznajer
,
S Lyonnet
,
M Elmaleh-Bergès
,
I Delpierre
,
S Audollent
,
S Wiener-Vacher
,
A-L Mansbach
,
J Amiel
,
C Baumann
,
D Bremond-Gignac
,
T Attié-Bitach
,
A Verloes
,
D Sanlaville
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 436 KB
Your tags:
english, 2007
3
Frequency of Von Hippel-Lindau germline mutations in classic and non-classic Von Hippel-Lindau disease identified by DNA sequencing, Southern blot analysis and multiplex ligation-dependent probe amplification
FJ Hes
,
RB Van Der Luijt
,
ALW Janssen
,
RA Zewald
,
GJ De Jong
,
JW Lenders
,
TP Links
,
GPM Luyten
,
RH Sijmons
,
HJ Eussen
,
DJJ Halley
,
CJM Lips
,
PL Pearson
,
AMW Van Den Ouweland
,
DF Majoor-Krakauer
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 229 KB
Your tags:
english, 2007
4
Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree
NC Meyer
,
CJ Nishimura
,
S McMordie
,
RJH Smith
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 543 KB
Your tags:
english, 2007
5
Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene
LCP Govaerts
,
AE Smit
,
JJ Saris
,
F VanderWerf
,
R Willemsen
,
CE Bakker
,
CI De Zeeuw
,
BA Oostra
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 230 KB
Your tags:
english, 2007
6
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
A Selicorni
,
S Russo
,
C Gervasini
,
P Castronovo
,
D Milani
,
F Cavalleri
,
A Bentivegna
,
M Masciadri
,
A Domi
,
MT Divizia
,
C Sforzini
,
E Tarantino
,
L Memo
,
G Scarano
,
L Larizza
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 412 KB
Your tags:
english, 2007
7
A comparison of counselee and counselor satisfaction in reproductive genetic counseling
CM Aalfs
,
FJ Oort
,
JCJM De Haes
,
NJ Leschot
,
EMA Smets
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 124 KB
Your tags:
english, 2007
8
Sweet successes in diabetes genetics
SM Clee
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 126 KB
Your tags:
english, 2007
9
Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate
AM Koivisto
,
S Ala-Mello
,
S Lemmelä
,
HA Komu
,
J Rautio
,
I Järvelä
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 322 KB
Your tags:
english, 2007
10
The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease
IJ Cohen
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 45 KB
Your tags:
english, 2007
11
Response to Cohen
J Charrow
,
B Dulisse
,
GA Grabowski
,
NJ Weinreb
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 45 KB
Your tags:
english, 2007
12
Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome
S-T Lee
,
C-S Ki
,
HJ Lee
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 177 KB
Your tags:
english, 2007
13
Transmission of familial Mediterranean fever mutations following bone marrow transplantation
I Touitou
,
B Dumont
,
M Pourtein
,
S Perelman
,
A Sirvent
,
C Soler
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 88 KB
Your tags:
english, 2007
14
The importance of the fetal origins of adult disease for geneticists
JG Hall
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 92 KB
Your tags:
english, 2007
15
Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis
L Gort
,
R Santamaria
,
D Grinberg
,
L Vilageliu
,
A Chabás
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 78 KB
Your tags:
english, 2007
16
Mutations in the CHX10 gene in non-syndromic microphthalmia/anophthalmia patients from Qatar
M Faiyaz-Ul-Haque
,
SHE Zaidi
,
MS Al-Mureikhi
,
I Peltekova
,
L-C Tsui
,
AS Teebi
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 155 KB
Your tags:
english, 2007
17
Validation study of the lambda model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish women
C Apicella
,
JG Dowty
,
GS Dite
,
MA Jenkins
,
RT Senie
,
MB Daly
,
IL Andrulis
,
EM John
,
SS Buys
,
FP Li
,
G Glendon
,
W Chung
,
H Ozcelik
,
A Miron
,
K Kotar
,
MC Southey
,
WD Foulkes
,
JL Hopper
Journal:
Clinical Genetics
Year:
2007
Language:
english
File:
PDF, 307 KB
Your tags:
english, 2007
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