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Journal of Medical Genetics
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Diabetes
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DFNA49, a novel locus for autosomal dominant non-syndromic hearing loss, maps proximal to DFNA7/DFNM1 region on chromosome 1q21-q23
M A
Moreno-Pelayo
,
S
Modamio-Høybjør
,
A
Mencía
,
I
del Castillo
,
S
Chardenoux
,
M
Fernández-Burriel
,
M
Lathrop
,
C
Petit
,
F
Moreno
Journal of Medical Genetics
Nov 2003,
40
(11)
832-836;
DOI:
10.1136/jmg.40.11.832
Mutations in hepatocyte nuclear factor-1β and their related phenotypes
E L
Edghill
,
C
Bingham
,
S
Ellard
,
A T
Hattersley
Journal of Medical Genetics
Jan 2006,
43
(1)
84-90;
DOI:
10.1136/jmg.2005.032854
Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib
S
Vuillaumier-Barrot
,
C
Le Bizec
,
P
de Lonlay
,
A
Barnier
,
G
Mitchell
,
V
Pelletier
,
C
Prevost
,
J M
Saudubray
,
G
Durand
,
N
Seta
Journal of Medical Genetics
Nov 2002,
39
(11)
849-851;
DOI:
10.1136/jmg.39.11.849
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son
G
Puoti
,
F
Carrara
,
S
Sampaolo
,
M
De Caro
,
C M
Vincitorio
,
F
Invernizzi
,
M
Zeviani
Journal of Medical Genetics
Nov 2003,
40
(11)
858-863;
DOI:
10.1136/jmg.40.11.858
A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14–21
T B
Kim
,
B
Isaacson
,
T A
Sivakumaran
,
A
Starr
,
B J B
Keats
,
M M
Lesperance
Journal of Medical Genetics
Nov 2004,
41
(11)
872-876;
DOI:
10.1136/jmg.2004.020628
A novel mutation in a patient with insulin-like growth factor 1 (IGF1) deficiency
G
Bonapace
,
D
Concolino
,
S
Formicola
,
P
Strisciuglio
Journal of Medical Genetics
Dec 2003,
40
(12)
913-917;
DOI:
10.1136/jmg.40.12.913
APOE and TGF-β1 genes are associated with obesity phenotypes
J-R
Long
,
P-Y
Liu
,
Y-J
Liu
,
Y
Lu
,
D-H
Xiong
,
L
Elze
,
R R
Recker
,
H-W
Deng
Journal of Medical Genetics
Dec 2003,
40
(12)
918-924;
DOI:
10.1136/jmg.40.12.918
Association of single nucleotide polymorphisms in the oxidised LDL receptor 1 (OLR1) gene in patients with acute myocardial infarction
R
Mango
,
F
Clementi
,
P
Borgiani
,
G B
Forleo
,
M
Federici
,
G
Contino
,
E
Giardina
,
L
Garza
,
I E
Fahdi
,
R
Lauro
,
J L
Mehta
,
G
Novelli
,
F
Romeo
Journal of Medical Genetics
Dec 2003,
40
(12)
933-936;
DOI:
10.1136/jmg.40.12.933
The mitochondrial superoxide dismutase A16V polymorphism in the cardiomyopathy associated with hereditary haemochromatosis
L
Valenti
,
D
Conte
,
A
Piperno
,
P
Dongiovanni
,
A L
Fracanzani
,
M
Fraquelli
,
A
Vergani
,
C
Gianni
,
L
Carmagnola
,
S
Fargion
Journal of Medical Genetics
Dec 2004,
41
(12)
946-950;
DOI:
10.1136/jmg.2004.019588
Molecular changes in skin predict predisposition to breast cancer
V J
James
,
B E
Willis
Journal of Medical Genetics
Feb 2002,
39
(2)
e1;
DOI:
10.1136/jmg.39.2.e1
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