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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
Association of
PLUNC
gene polymorphisms with susceptibility to nasopharyngeal carcinoma in a Chinese population
Y
He
,
G
Zhou
,
Y
Zhai
,
X
Dong
,
L
Lv
,
F
He
,
K
Yao
Journal of Medical Genetics
Feb 2005,
42
(2)
172-176;
DOI:
10.1136/jmg.2004.022616
A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes
D Z
Loesch
,
M
Cook
,
L
Litewka
,
E
Gould
,
A
Churchyard
,
F
Tassone
,
H R
Slater
,
E
Storey
Journal of Medical Genetics
Mar 2008,
45
(3)
179-181;
DOI:
10.1136/jmg.2007.054171
A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13
F
Brancati
,
E M
Valente
,
A
Sarkozy
,
J
Fehèr
,
M
Castori
,
P
Del Duca
,
R
Mingarelli
,
A
Pizzuti
,
B
Dallapiccola
Journal of Medical Genetics
Mar 2004,
41
(3)
188-192;
DOI:
10.1136/jmg.2003.012872
Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases
V
Cormier-Daire
,
A L
Delezoide
,
N
Philip
,
P
Marcorelles
,
K
Casas
,
Y
Hillion
,
L
Faivre
,
D L
Rimoin
,
A
Munnich
,
P
Maroteaux
,
M
Le Merrer
Journal of Medical Genetics
Mar 2003,
40
(3)
195-200;
DOI:
10.1136/jmg.40.3.195
The performance of CGH array for the detection of cryptic constitutional chromosome imbalances
J
Schoumans
,
B-M
Anderlid
,
E
Blennow
,
B T
Teh
,
M
Nordenskjöld
Journal of Medical Genetics
Mar 2004,
41
(3)
198-202;
DOI:
10.1136/jmg.2003.013920
The frequency of mtDNA 8994 polymorphism and detection of the NARP 8993 mutation
R G F
Gray
,
P A
Davies
,
A
Marshall
,
S K
Heath
Journal of Medical Genetics
Mar 2002,
39
(3)
204-205;
DOI:
10.1136/jmg.39.3.204
Assignment of the locus for ichthyosis prematurity syndrome to chromosome 9q33.3–34.13
J
Klar
,
T
Gedde-Dahl
,
M
Larsson
,
M
Pigg
,
B
Carlsson
,
D
Tentler
,
A
Vahlquist
,
N
Dahl
Journal of Medical Genetics
Mar 2004,
41
(3)
208-212;
DOI:
10.1136/jmg.2003.012567
Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions
D
Concolino
,
M A
Iembo
,
E
Rossi
,
S
Giglio
,
G
Coppola
,
E
Miraglia del Giudice
,
P
Strisciuglio
Journal of Medical Genetics
Mar 2002,
39
(3)
214-216;
DOI:
10.1136/jmg.39.3.214
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome
V P
Sybert
Journal of Medical Genetics
Mar 2002,
39
(3)
217-220;
DOI:
10.1136/jmg.39.3.217
Rett syndrome and the
MECP2
gene
Tessa
Webb
,
Farida
Latif
Journal of Medical Genetics
Apr 2001,
38
(4)
217-223;
DOI:
10.1136/jmg.38.4.217
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