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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
Cancer surveillance is often inadequate in people at high risk for colorectal cancer
E M
Stoffel
,
J E
Garber
,
S
Grover
,
L
Russo
,
J
Johnson
,
S
Syngal
Journal of Medical Genetics
May 2003,
40
(5)
e54;
DOI:
10.1136/jmg.40.5.e54
Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia
I
Wieland
,
P
Muschke
,
S
Jakubiczka
,
M
Volleth
,
B
Freigang
,
P F
Wieacker
Journal of Medical Genetics
May 2004,
41
(5)
e54;
DOI:
10.1136/jmg.2003.010587
FBN2
mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly
P A
Gupta
,
D D
Wallis
,
T O
Chin
,
H
Northrup
,
V T
Tran-Fadulu
,
J A
Towbin
,
D M
Milewicz
Journal of Medical Genetics
May 2004,
41
(5)
e56;
DOI:
10.1136/jmg.2003.012880
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
Haemochromatosis (
HFE
) gene C282Y mutation and the risk of coronary artery disease and myocardial infarction: a study in 1279 patients undergoing coronary angiography
R
Surber
,
H H
Sigusch
,
H
Kuehnert
,
H R
Figulla
Journal of Medical Genetics
May 2003,
40
(5)
e58;
DOI:
10.1136/jmg.40.5.e58
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
Molecular screening for Smith-Magenis syndrome among patients with mental retardation of unknown cause
J L
Struthers
,
N
Carson
,
M
McGill
,
M M
Khalifa
Journal of Medical Genetics
Oct 2002,
39
(10)
e59;
DOI:
10.1136/jmg.39.10.e59
Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations
G
Barbi
,
E
Rossier
,
S
Vossbeck
,
H
Hummler
,
D
Lang
,
F
Flock
,
R
Terinde
,
J
Wirth
,
W
Vogel
,
H
Kehrer-Sawatzki
Journal of Medical Genetics
Feb 2002,
39
(2)
e6;
DOI:
10.1136/jmg.39.2.e6
Deletion in the
ABL
gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation
A
Aboura
,
P
Labrune
,
F
Perreaux
,
V
Poncet
,
S
Brisset
,
L
Foix-L’Helias
,
G
Tachdjian
Journal of Medical Genetics
Jan 2003,
40
(1)
e6;
DOI:
10.1136/jmg.40.1.e6
Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association
ROBERTA
CINTI
,
MANUELA
PRIOLO
,
MARGHERITA
LERONE
,
GIORGIO
GIMELLI
,
MARCO
SERI
,
MARGHERITA
SILENGO
,
ROBERTO
RAVAZZOLO
Journal of Medical Genetics
Feb 2001,
38
(2)
e6;
DOI:
10.1136/jmg.38.2.e6
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