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Volume 73; Issue 1
Main
Clinical Genetics
Volume 73; Issue 1
Clinical Genetics
Volume 73; Issue 1
1
Sex-linked deafness
MB Petersen
,
Q Wang
,
PJ Willems
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 157 KB
Your tags:
english, 2008
2
De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma
B Drera
,
G Tadini
,
F Balbo
,
L Marchese
,
S Barlati
,
M Colombi
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 260 KB
Your tags:
english, 2008
3
Genetic heterogeneity of autosomal dominant hypercholesterolemia
M Varret
,
M Abifadel
,
J-P Rabès
,
C Boileau
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 190 KB
Your tags:
english, 2008
4
Sotos syndrome caused by a paracentric inversion disrupting the NSD1 gene
V Malan
,
MC De Blois
,
M Prieur
,
MC Perrier-Waill
,
C Huguet-Nedjar
,
L Gegas
,
C Turleau
,
M Vekemans
,
A Munnich
,
SP Romana
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 184 KB
Your tags:
english, 2008
5
Array-based genotype–phenotype correlation in a case of supernumerary ring chromosome 12
J Davidsson
,
A Collin
,
M Öreberg
,
D Gisselsson
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 403 KB
Your tags:
english, 2008
6
Two novel functional mutations in the Na+,K+-ATPase α2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes
M-J Castro
,
B Nunes
,
B De Vries
,
C Lemos
,
KRJ Vanmolkot
,
JJMW Van Den Heuvel
,
T Temudo
,
J Barros
,
J Sequeiros
,
RR Frants
,
JB Koenderink
,
JM Pereira-Monteiro
,
AMJM Van Den Maagdenberg
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 450 KB
Your tags:
english, 2008
7
Analysis of the HFE gene (H63D and C282Y) mutations in patients with iron overload, family members and controls from Antioquia, Northwest Colombia
IC Avila-Gomez
,
G Latorre-Sierra
,
JC Restrepo-Gutierrez
,
G Correa-Arango
,
M Jimenez-Del-Rio
,
C Velez-Pardo
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 68 KB
Your tags:
english, 2008
8
Disruption of the IL1RAPL1 gene associated with a pericentromeric inversion of the X chromosome in a patient with mental retardation and autism
SS Bhat
,
S Ladd
,
F Grass
,
JE Spence
,
CK Brasington
,
RJ Simensen
,
CE Schwartz
,
BR DuPont
,
RE Stevenson
,
AK Srivastava
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 246 KB
Your tags:
english, 2008
9
A life without pain? Hedonists take note
FBJ Young
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 67 KB
Your tags:
english, 2008
10
When adaptive processes go awry: gain-of-function in SCN9A
FBJ Young
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 166 KB
Your tags:
english, 2008
11
Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNASer(UCN) in sensorineural hearing loss
V Labay
,
G Garrido
,
AC Madeo
,
WE Nance
,
TB Friedman
,
PL Friedman
,
I Del Castillo
,
AJ Griffith
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 254 KB
Your tags:
english, 2008
12
A novel arginine-to-cysteine substitution in the triple helical region of the α1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers–Danlos phenotype
AM Lund
,
F Joensen
,
E Christensen
,
M Dunø
,
F Skovby
,
M Schwartz
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 167 KB
Your tags:
english, 2008
13
Polymorphisms spanning the 0N exon and promoter of the estrogen receptor-beta (ERβ) gene ESR2 are associated with venous ulceration
JJ Ashworth
,
JV Smyth
,
N Pendleton
,
M Horan
,
A Payton
,
J Worthington
,
WE Ollier
,
GS Ashcroft
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 192 KB
Your tags:
english, 2008
14
Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver–Russell syndrome
T Eggermann
,
N Schönherr
,
K Eggermann
,
K Buiting
,
MB Ranke
,
HA Wollmann
,
G Binder
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 161 KB
Your tags:
english, 2008
15
Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome
AL Schulz
,
B Albrecht
,
C Arici
,
I Van Der Burgt
,
A Buske
,
G Gillessen-Kaesbach
,
R Heller
,
D Horn
,
CA Hübner
,
GC Korenke
,
R König
,
W Kress
,
G Krüger
,
P Meinecke
,
J Mücke
,
B Plecko
,
E Rossier
,
A Schinze
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 435 KB
Your tags:
english, 2008
16
Myocardin gene regulatory variants as surrogate markers of cardiac hypertrophy – study in a genetically homogeneous population
JE Kontaraki
,
FI Parthenakis
,
AP Patrianakos
,
IK Karalis
,
PE Vardas
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 129 KB
Your tags:
english, 2008
17
Skeletal dysplasias and the growth plate
BA Alman
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 210 KB
Your tags:
english, 2008
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