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BMJ Journals
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Journal of Medical Genetics
CLINICAL
Diagnostics
Clinical diagnostic tests
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Clinical diagnostic tests
Dilated cardiomyopathy, sudden cardiac death, hypoplastic discs, and retinal detachment: a new autosomal dominant syndrome
J A
Goodship
,
J
O'Sullivan
,
P F
Chinnery
,
A K
Ryan
,
N
Ziakas
,
C M
Hall
,
M
Clarke
Journal of Medical Genetics
Mar 2002,
39
(3)
221-223;
DOI:
10.1136/jmg.39.3.221
Unique de novo mutation of
BRCA2
in a woman with early onset breast cancer
M
Robson
,
L
Scheuer
,
K
Nafa
,
N
Ellis
,
K
Offit
Journal of Medical Genetics
Feb 2002,
39
(2)
126-128;
DOI:
10.1136/jmg.39.2.126
A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel
COL1A2
mutation
M T
Johnson
,
S
Morrison
,
S
Heeger
,
S
Mooney
,
P H
Byers
,
N H
Robin
Journal of Medical Genetics
Feb 2002,
39
(2)
128-132;
DOI:
10.1136/jmg.39.2.128
Functional characterisation of
MeCP2
mutations found in male patients with X linked mental retardation
S
Kudo
,
Y
Nomura
,
M
Segawa
,
N
Fujita
,
M
Nakao
,
S
Hammer
,
C
Schanen
,
I
Terai
,
M
Tamura
Journal of Medical Genetics
Feb 2002,
39
(2)
132-136;
DOI:
10.1136/jmg.39.2.132
Acrofacial dysostosis in a patient with the
TSC2-PKD1
contiguous gene syndrome
J G
Dauwerse
,
K
Bouman
,
A J
van Essen
,
A H
van der Hout
,
G
Kolsters
,
M H
Breuning
,
D J M
Peters
Journal of Medical Genetics
Feb 2002,
39
(2)
136-141;
DOI:
10.1136/jmg.39.2.136
Molecular changes in skin predict predisposition to breast cancer
V J
James
,
B E
Willis
Journal of Medical Genetics
Feb 2002,
39
(2)
e1;
DOI:
10.1136/jmg.39.2.e1
Exclusion of
PTEN
,
CTNNB1
, and
PTCH
as candidate genes for Birt-Hogg-Dube syndrome
J R
Toro
,
Y O
Shevchenko
,
J G
Compton
,
S J
Bale
Journal of Medical Genetics
Feb 2002,
39
(2)
e10;
DOI:
10.1136/jmg.39.2.e10
Spastic paraparesis and atypical dementia caused by
PSEN1
mutation (P264L), responsible for Alzheimer's disease
M-L
Jacquemont
,
D
Campion
,
V
Hahn
,
C
Tallaksen
,
T
Frebourg
,
A
Brice
,
A
Durr
Journal of Medical Genetics
Feb 2002,
39
(2)
e2;
DOI:
10.1136/jmg.39.2.e2
Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15
D
Poyatos
,
M
Guitart
,
E
Gabau
,
C
Brun
,
M
Mila
,
J
Vaquerizo
,
M D
Coll
Journal of Medical Genetics
Feb 2002,
39
(2)
e4;
DOI:
10.1136/jmg.39.2.e4
Inositol and folate resistant neural tube defects
P
Cavalli
,
A J
Copp
Journal of Medical Genetics
Feb 2002,
39
(2)
e5;
DOI:
10.1136/jmg.39.2.e5
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