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Volume 74; Issue 5
Main
Clinical Genetics
Volume 74; Issue 5
Clinical Genetics
Volume 74; Issue 5
1
CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine
AH Stam
,
KRJ Vanmolkot
,
HPH Kremer
,
J Gärtner
,
J Brown
,
E Leshinsky-Silver
,
R Gilad
,
EE Kors
,
WS Frankhuizen
,
HB Ginjaar
,
J Haan
,
RR Frants
,
MD Ferrari
,
AMJM Van Den Maagdenberg
,
GM Terwindt
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 212 KB
Your tags:
english, 2008
2
A novel mutation in the FOXC1 gene in a family with Axenfeld–Rieger syndrome and Peters’ anomaly
N Weisschuh
,
C Wolf
,
B Wissinger
,
E Gramer
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 238 KB
Your tags:
english, 2008
3
Segmental maternal UPD(7q) in Silver–Russell syndrome
T Eggermann
,
N Schönherr
,
S Jäger
,
C Spaich
,
MB Ranke
,
HA Wollmann
,
G Binder
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 83 KB
Your tags:
english, 2008
4
Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology
SC Menon
,
VV Michels
,
PA Pellikka
,
JD Ballew
,
ML Karst
,
KJ Herron
,
SM Nelson
,
RJ Rodeheffer
,
TM Olson
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 446 KB
Your tags:
english, 2008
5
Drayer’s syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)
P Rump
,
T Dijkhuizen
,
B Sikkema-Raddatz
,
HH Lemmink
,
YJ Vos
,
JBGM Verheij
,
CMA Van Ravenswaaij
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 434 KB
Your tags:
english, 2008
6
Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations
WT Wright
,
SV Heggarty
,
IS Young
,
DP Nicholls
,
R Whittall
,
SE Humphries
,
CA Graham
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 298 KB
Your tags:
english, 2008
7
Ghosal syndrome – genetics unveiled
RA Stein
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 91 KB
Your tags:
english, 2008
8
The genetic basis of uric acid variance
RA Stein
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 209 KB
Your tags:
english, 2008
9
A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome
R Day
,
B Beckett
,
D Donnai
,
A Fryer
,
M Heidenblad
,
P Howard
,
B Kerr
,
S Mansour
,
U Maye
,
S McKee
,
S Mohammed
,
E Sweeney
,
M Tassabehji
,
BBA De Vries
,
J Clayton-Smith
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 343 KB
Your tags:
english, 2008
10
Adaptation to living with a genetic condition or risk: a mini-review
BB Biesecker
,
L Erby
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 104 KB
Your tags:
english, 2008
11
Psychosocial outcome following genetic risk counselling for familial colorectal cancer. A comparison of affected patients and family members
M Keller
,
R Jost
,
CM Haunstetter
,
H Sattel
,
C Schroeter
,
U Bertsch
,
F Cremer
,
P Kienle
,
M Tariverdian
,
M Kloor
,
J Gebert
,
A Brechtel
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 175 KB
Your tags:
english, 2008
12
A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12-p35.1
HY Li
,
N Li
,
H Jiang
,
L Shen
,
JF Guo
,
RX Zhang
,
K Xia
,
Q Pan
,
XH Zi
,
BS Tang
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 130 KB
Your tags:
english, 2008
13
Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
DJ Morris-Rosendahl
,
J Najm
,
AMA Lachmeijer
,
L Sztriha
,
M Martins
,
A Kuechler
,
V Haug
,
C Zeschnigk
,
P Martin
,
M Santos
,
C Vasconcelos
,
H Omran
,
U Kraus
,
MS Van der Knaap
,
G Schuierer
,
K Kutsche
,
G Uya
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 421 KB
Your tags:
english, 2008
14
Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2
BC Ballif
,
A Theisen
,
DM McDonald-McGinn
,
EH Zackai
,
JH Hersh
,
BA Bejjani
,
LG Shaffer
Journal:
Clinical Genetics
Year:
2008
Language:
english
File:
PDF, 420 KB
Your tags:
english, 2008
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