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Journal of Medical Genetics
CLINICAL
Ophthalmology
Eye Diseases
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Eye Diseases
CLINICAL
/
Ophthalmology
/
Eye Diseases
Partial trisomy 22 in a liveborn resulting from a rearrangement between chromosomes 6 and 22
GHAZALA
MIRZA
,
KIYOSHI
IMAIZUMI
,
JIANNIS
RAGOUSSIS
Journal of Medical Genetics
Sep 2000,
37
(9)
e22;
DOI:
10.1136/jmg.37.9.e22
Proximal 10q trisomy: a new case with anal atresia
F W F
LAM
,
W K
CHAN
,
S T S
LAM
,
W P
CHU
,
N S
KWONG
Journal of Medical Genetics
Sep 2000,
37
(9)
e24;
DOI:
10.1136/jmg.37.9.e24
The genetics of childhood cataract
P J
Francis
,
V
Berry
,
S S
Bhattacharya
,
A T
Moore
Journal of Medical Genetics
Jul 2000,
37
(7)
481-488;
DOI:
10.1136/jmg.37.7.481
A clinical study of 57 children with fetal anticonvulsant syndromes
S J
Moore
,
P
Turnpenny
,
A
Quinn
,
S
Glover
,
D J
Lloyd
,
T
Montgomery
,
J C S
Dean
Journal of Medical Genetics
Jul 2000,
37
(7)
489-497;
DOI:
10.1136/jmg.37.7.489
Alström syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs
URS
ZUMSTEG
,
PATRICK Y
MULLER
,
ANDRÉ R
MISEREZ
Journal of Medical Genetics
Jul 2000,
37
(7)
e8;
DOI:
10.1136/jmg.37.7.e8
Molecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness
S Nicole
Martin
,
Joanne
Sutherland
,
Alex V
Levin
,
Robert
Klose
,
Megan
Priston
,
Elise
Héon
Journal of Medical Genetics
Jun 2000,
37
(6)
422-427;
DOI:
10.1136/jmg.37.6.422
Mutation analysis of
GABRR1
and
GABRR2
in autosomal recessive retinitis pigmentosa (
RP25
)
I
MARCOS
,
A
RUIZ
,
C J
BLASCHAK
,
S
BORREGO
,
G R
CUTTING
,
G
ANTIÑOLO
Journal of Medical Genetics
Jun 2000,
37
(6)
e5;
DOI:
10.1136/jmg.37.6.e5
Autosomal translocation associated with premature ovarian failure
KAREN A
BURTON
,
CYNTHIA C
VAN EE
,
KIM
PURCELL
,
INGRID
WINSHIP
,
ANDREW N
SHELLING
Journal of Medical Genetics
May 2000,
37
(5)
e2;
DOI:
10.1136/jmg.37.5.e2
Genetic heterogeneity of Usher syndrome type II: localisation to chromosome 5q
S
Pieke-Dahl
,
C G
Möller
,
P M
Kelley
,
L M
Astuto
,
C W R J
Cremers
,
M B
Gorin
,
W J
Kimberling
Journal of Medical Genetics
Apr 2000,
37
(4)
256-262;
DOI:
10.1136/jmg.37.4.256
Genetic susceptibility to age related macular degeneration
John R W
Yates
,
Anthony T
Moore
Journal of Medical Genetics
Feb 2000,
37
(2)
83-87;
DOI:
10.1136/jmg.37.2.83
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