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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
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
Surviving campomelic dysplasia has the radiological features of the previously reported ischio-pubic-patella syndrome
A C
Offiah
,
S
Mansour
,
S
McDowall
,
J
Tolmie
,
P
Sim
,
C M
Hall
Journal of Medical Genetics
Sep 2002,
39
(9)
e50;
DOI:
10.1136/jmg.39.9.e50
Molecular analysis of the aldolase B gene in patients with hereditary fructose intolerance from Spain
J C
Sánchez-Gutiérrez
,
T
Benlloch
,
M A
Leal
,
B
Samper
,
I
García-Ripoll
,
J E
Felíu
Journal of Medical Genetics
Sep 2002,
39
(9)
e56;
DOI:
10.1136/jmg.39.9.e56
Allelic variants in the 5` non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX)
C
Bergmann
,
K
Zerres
,
S
Rudnik-Schöneborn
,
T
Eggermann
,
J M
Schröder
,
J
Senderek
Journal of Medical Genetics
Sep 2002,
39
(9)
e58;
DOI:
10.1136/jmg.39.9.e58
Twelve novel
FBN1
mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of
FBN1
mutation testing in clinical practice
D J
Halliday
,
S
Hutchinson
,
L
Lonie
,
J A
Hurst
,
H
Firth
,
P A
Handford
,
P
Wordsworth
Journal of Medical Genetics
Aug 2002,
39
(8)
589-593;
DOI:
10.1136/jmg.39.8.589
Interstitial telomeres of an inv(9)(p11.2;q34) involved in a jumping translocation found in a woman through a stable unbalanced translocation in her malformed child
E
Sala
,
N
Villa
,
P
Riva
,
T
Varisco
,
L
Larizza
,
L
Dalprà
Journal of Medical Genetics
Aug 2002,
39
(8)
e42;
DOI:
10.1136/jmg.39.8.e42
Multifocal glomus tumours of the fingers in two patients with neurofibromatosis type 1
L
De Smet
,
R
Sciot
,
E
Legius
Journal of Medical Genetics
Aug 2002,
39
(8)
e45;
DOI:
10.1136/jmg.39.8.e45
A necropsy case of Denys-Drash syndrome with a
WT1
mutation in exon 7
R
Fukuzawa
,
J
Sakamoto
,
R W
Heathcott
,
J-I
Hata
Journal of Medical Genetics
Aug 2002,
39
(8)
e48;
DOI:
10.1136/jmg.39.8.e48
Management of women with a family history of breast cancer in the North West Region of England: training for implementing a vision of the future
M
McAllister
,
K
O'Malley
,
P
Hopwood
,
B
Kerr
,
A
Howell
,
D G R
Evans
Journal of Medical Genetics
Jul 2002,
39
(7)
531-535;
DOI:
10.1136/jmg.39.7.531
Novel
BRCA2
mutation in a Polish family with hamartoma and two male breast cancers
E
Kwiatkowska
,
I
Brozek
,
E
Izycka-Swieszewska
,
J
Limon
,
A
Mackiewicz
Journal of Medical Genetics
Jul 2002,
39
(7)
e35;
DOI:
10.1136/jmg.39.7.e35
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