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BMJ Journals
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Journal of Medical Genetics
CLINICAL
Dermatology
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Dermatology
Streptococcal infection distinguishes different types of psoriasis
P
Weisenseel
,
B
Laumbacher
,
P
Besgen
,
D
Ludolph-Hauser
,
T
Herzinger
,
M
Roecken
,
R
Wank
,
J C
Prinz
Journal of Medical Genetics
Oct 2002,
39
(10)
767-768;
DOI:
10.1136/jmg.39.10.767
Spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type): three further cases and evidence of autosomal dominant inheritance
C M
Hall
,
N H
Elcioglu
,
K D
MacDermot
,
A C
Offiah
,
R M
Winter
Journal of Medical Genetics
Sep 2002,
39
(9)
666-670;
DOI:
10.1136/jmg.39.9.666
Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis
D
Zuccarello
,
D C
Salpietro
,
S
Gangemi
,
V
Toscano
,
M V
Merlino
,
S
Briuglia
,
G
Bisignano
,
M
Mangino
,
R
Mingarelli
,
B
Dallapiccola
Journal of Medical Genetics
Sep 2002,
39
(9)
671-675;
DOI:
10.1136/jmg.39.9.671
Exceptionally mild Angelman syndrome phenotype associated with an incomplete imprinting defect
K
Brockmann
,
R
Böhm
,
J
Bürger
Journal of Medical Genetics
Sep 2002,
39
(9)
e51;
DOI:
10.1136/jmg.39.9.e51
The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels
R A
Whittall
,
S
Matheus
,
T
Cranston
,
G J
Miller
,
S E
Humphries
Journal of Medical Genetics
Sep 2002,
39
(9)
e57;
DOI:
10.1136/jmg.39.9.e57
Analysis of the
p63
gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts
L L
Barrow
,
H
van Bokhoven
,
S
Daack-Hirsch
,
T
Andersen
,
S E C
van Beersum
,
R
Gorlin
,
J C
Murray
Journal of Medical Genetics
Aug 2002,
39
(8)
559-566;
DOI:
10.1136/jmg.39.8.559
PTPN11
mutations in LEOPARD syndrome
E
Legius
,
C
Schrander-Stumpel
,
E
Schollen
,
C
Pulles-Heintzberger
,
M
Gewillig
,
J-P
Fryns
Journal of Medical Genetics
Aug 2002,
39
(8)
571-574;
DOI:
10.1136/jmg.39.8.571
Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome
M M
van Haelst
,
H J F M M
Eussen
,
F
Visscher
,
J L M
de Ruijter
,
S L S
Drop
,
D
Lindhout
,
C H
Wouters
,
L C P
Govaerts
Journal of Medical Genetics
Aug 2002,
39
(8)
582-585;
DOI:
10.1136/jmg.39.8.582
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of
CREBBP
O
Bartsch
,
K
Locher
,
P
Meinecke
,
W
Kress
,
E
Seemanová
,
A
Wagner
,
K
Ostermann
,
G
Rödel
Journal of Medical Genetics
Jul 2002,
39
(7)
496-501;
DOI:
10.1136/jmg.39.7.496
The
p63
gene in EEC and other syndromes
H G
Brunner
,
B C J
Hamel
,
H
van Bokhoven
Journal of Medical Genetics
Jun 2002,
39
(6)
377-381;
DOI:
10.1136/jmg.39.6.377
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