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BMJ Journals
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Journal of Medical Genetics
CLINICAL
Endocrinology
Email alerts
Endocrinology
Germline mosaicism for a
GNAS1
mutation and Albright hereditary osteodystrophy
MICHEALA A
ALDRED
,
R JANE
BAGSHAW
,
KAY
MACDERMOT
,
DAVID
CASSON
,
SIMON H
MURCH
,
J A
WALKER-SMITH
,
RICHARD C
TREMBATH
Journal of Medical Genetics
Nov 2000,
37
(11)
e35;
DOI:
10.1136/jmg.37.11.e35
Compound heterozygous
ZMPSTE24
mutations reduce prelamin A processing and result in a severe progeroid phenotype
S
Shackleton
,
D T
Smallwood
,
P
Clayton
,
L C
Wilson
,
A K
Agarwal
,
A
Garg
,
R C
Trembath
Journal of Medical Genetics
Jun 2005,
42
(6)
e36;
DOI:
10.1136/jmg.2004.029751
Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems
F
Malfait
,
S
Symoens
,
P
Coucke
,
L
Nunes
,
S
De Almeida
,
A
De Paepe
Journal of Medical Genetics
Jul 2006,
43
(7)
e36;
DOI:
10.1136/jmg.2005.038224
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (
GJB2
) gene
Myrna
Mustapha
,
Nabiha
Salem
,
Valérie
Delague
,
Eliane
Chouery
,
Michella
Ghassibeh
,
Myriam
Rai
,
Jacques
Loiselet
,
Christine
Petit
,
André
Mégarbané
Journal of Medical Genetics
Oct 2001,
38
(10)
e36;
DOI:
10.1136/jmg.38.10.e36
Comorbid
VHL
and
SCA2
mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration
D E
McNeil
,
W M
Linehan
,
G M
Glenn
Journal of Medical Genetics
Jul 2002,
39
(7)
e37;
DOI:
10.1136/jmg.39.7.e37
Divergent phenotypes in Gaucher disease implicate the role of modifiers
O
Goker-Alpan
,
K S
Hruska
,
E
Orvisky
,
P S
Kishnani
,
B K
Stubblefield
,
R
Schiffmann
,
E
Sidransky
Journal of Medical Genetics
Jun 2005,
42
(6)
e37;
DOI:
10.1136/jmg.2004.028019
Wolfram syndrome: a clinical and molecular genetic analysis
Philipp
Eller
,
Bernhard
Föger
,
Roland
Gander
,
Teresa
Sauper
,
Monika
Lechleitner
,
Gerd
Finkenstedt
,
Josef R
Patsch
Journal of Medical Genetics
Nov 2001,
38
(11)
e37;
DOI:
10.1136/jmg.38.11.e37
Familial craniofacial fibrous dysplasia: absence of linkage to
GNAS1
and the gene for cherubism
JONATHAN
MANGION
,
SARAH
EDKINS
,
ALASTAIR N
GOSS
,
MICHAEL R
STRATTON
,
ADRIENNE M
FLANAGAN
Journal of Medical Genetics
Nov 2000,
37
(11)
e37;
DOI:
10.1136/jmg.37.11.e37
Studies on the pathogenesis of Costello syndrome
G M S
Mancini
,
O P
van Diggelen
,
W J
Kleijer
,
M
Di Rocco
,
V
Farina
,
M
Yuksel-Apak
,
H
Kayserili
,
D J J
Halley
Journal of Medical Genetics
Apr 2003,
40
(4)
e37;
DOI:
10.1136/jmg.40.4.e37
Clinical presentation in female patients with Fabry disease
N
Guffon
Journal of Medical Genetics
Apr 2003,
40
(4)
e38;
DOI:
10.1136/jmg.40.4.e38
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