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BMJ Journals
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Journal of Medical Genetics
CLINICAL
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CLINICAL
Hereditary ovarian cancer resulting from a non-ovarian cancer cluster region (OCCR)
BRCA2
mutation: is the OCCR useful clinically?
M
Al-Saffar
,
W D
Foulkes
Journal of Medical Genetics
Nov 2002,
39
(11)
e68;
DOI:
10.1136/jmg.39.11.e68
Genomic deletion within
GLDC
is a major cause of non-ketotic hyperglycinaemia
Junko
Kanno
,
Tim
Hutchin
,
Fumiaki
Kamada
,
Ayumi
Narisawa
,
Yoko
Aoki
,
Yoichi
Matsubara
,
Shigeo
Kure
Journal of Medical Genetics
Mar 2007,
44
(3)
e69;
DOI:
10.1136/jmg.2006.043448
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
R
Gooding
,
J
Colomer
,
R
King
,
D
Angelicheva
,
L
Marns
,
Y
Parman
,
D
Chandler
,
J
Bertranpetit
,
L
Kalaydjieva
Journal of Medical Genetics
Dec 2005,
42
(12)
e69;
DOI:
10.1136/jmg.2005.034132
Neuroferritinopathy in a French family with late onset dominant dystonia
P F
Chinnery
,
A R J
Curtis
,
C
Fey
,
A
Coulthard
,
D
Crompton
,
A
Curtis
,
A
Lombés
,
J
Burn
Journal of Medical Genetics
May 2003,
40
(5)
e69;
DOI:
10.1136/jmg.40.5.e69
Somatic mosaicism is rare in unaffected parents of patients with sporadic tuberous sclerosis
P S
Roberts
,
S
Dabora
,
E A
Thiele
,
D N
Franz
,
S
Jozwiak
,
D J
Kwiatkowski
Journal of Medical Genetics
May 2004,
41
(5)
e69;
DOI:
10.1136/jmg.2003.014126
Continuous medical education approaches for clinical genetics: a postal survey of general practitioners
N
Qureshi
,
R
Hapgood
,
S
Armstrong
Journal of Medical Genetics
Nov 2002,
39
(11)
e69;
DOI:
10.1136/jmg.39.11.e69
The severe form of type I hyperprolinaemia results from homozygous inactivation of the
PRODH
gene
H
Jacquet
,
J
Berthelot
,
C
Bonnemains
,
G
Simard
,
P
Saugier-Veber
,
G
Raux
,
D
Campion
,
D
Bonneau
,
T
Frebourg
Journal of Medical Genetics
Jan 2003,
40
(1)
e7;
DOI:
10.1136/jmg.40.1.e7
Germline mutation analysis of the transforming growth factor β receptor type II (
TGFBR2
) and E-cadherin (
CDH1
) genes in early onset and familial colorectal cancer
LOVEENA
VERMA
,
TIMOTHY R
PORTER
,
FRANCES M
RICHARDS
,
M HELEN
RAJPAR
,
D GARETH R
EVANS
,
FIONA
MACDONALD
,
EAMONN R
MAHER
Journal of Medical Genetics
Feb 2001,
38
(2)
e7;
DOI:
10.1136/jmg.38.2.e7
No evidence of an association between the T16189C mtDNA variant and late onset dementia
A M
Gibson
,
J A
Edwardson
,
D M
Turnbull
,
I G
McKeith
,
C M
Morris
,
P F
Chinnery
Journal of Medical Genetics
Jan 2004,
41
(1)
e7;
DOI:
10.1136/jmg.2003.010983
Refined mapping of the gene for otopalatodigital syndrome type I
T
Kosho
,
T
Uemura
,
M
Tanimura
,
H
Ohashi
,
K
Muroya
,
T
Ogata
Journal of Medical Genetics
Feb 2002,
39
(2)
e7;
DOI:
10.1136/jmg.39.2.e7
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CLINICAL
Cardiovascular medicine
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(33)
Cardiomyopathy
(95)
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(93)
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(63)
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(48)
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(32)
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(4)
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(272)
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(399)
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(120)
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(9)
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(344)
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(113)
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(125)
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(45)
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