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BMJ Journals
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Journal of Medical Genetics
CLINICAL
Neurology
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Neurology
Mitochondrial DNA inheritance in patients with deleted mtDNA
Lluis
Quintana-Murci
,
Agnes
Rötig
,
Arnold
Munnich
,
Pierre
Rustin
,
Thomas
Bourgeron
Journal of Medical Genetics
Sep 2001,
38
(9)
e28;
DOI:
10.1136/jmg.38.9.e28
Partial hexasomy 15pter→15q13 including
SNRPN
and D15S10: first molecular cytogenetically proven case report
A
Nietzel
,
B
Albrecht
,
H
Starke
,
A
Heller
,
G
Gillessen-Kaesbach
,
U
Claussen
,
T
Liehr
Journal of Medical Genetics
Mar 2003,
40
(3)
e28;
DOI:
10.1136/jmg.40.3.e28
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia
C
Goizet
,
R
Ben Yaou
,
L
Demay
,
P
Richard
,
S
Bouillot
,
M
Rouanet
,
E
Hermosilla
,
G
Le Masson
,
A
Lagueny
,
G
Bonne
,
X
Ferrer
Journal of Medical Genetics
Mar 2004,
41
(3)
e29;
DOI:
10.1136/jmg.2003.013383
Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain
KRYSTYNA H
CHRZANOWSKA
,
MARKUS
STUMM
,
MONIKA
BEKIESIŃSKA-FIGATOWSKA
,
RAYMONDA
VARON
,
MAGDALENA
BIAŁECKA
,
HANNA
GREGOREK
,
JACEK
MICHAŁKIEWICZ
,
MAŁGORZATA
KRAJEWSKA-WALASEK
,
SERGIUSZ
JÓŹWIAK
,
ANDRÉ
REIS
Journal of Medical Genetics
Jan 2001,
38
(1)
e3;
DOI:
10.1136/jmg.38.1.e3
Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
G-J
Lee-Chen
,
S-P
Lin
,
S-Z
Lin
,
C-K
Chuang
,
K-T
Hsiao
,
C-F
Huang
,
W-C
Lien
Journal of Medical Genetics
Feb 2002,
39
(2)
e3;
DOI:
10.1136/jmg.39.2.e3
Genotype-phenotype correlations in tuberous sclerosis
PETRUS J
DE VRIES
,
PATRICK F
BOLTON
Journal of Medical Genetics
May 2000,
37
(5)
e3;
DOI:
10.1136/jmg.37.5.e3
Induction of instability of normal length trinucleotide repeats within human disease genes
L
Fernàndez-López
,
E
Piñeiro
,
R
Marcos
,
A
Velázquez
,
J
Surrallés
Journal of Medical Genetics
Jan 2004,
41
(1)
e3;
DOI:
10.1136/jmg.2003.010298
Partial tetrasomy 21 in a male infant
ANNE M
SLAVOTINEK
,
XIAO-NING
CHEN
,
ANN
JACKSON
,
LORRAINE
GAUNT
,
ALASTAIR
CAMPBELL
,
JILL
CLAYTON-SMITH
,
JULIE R
KORENBERG
Journal of Medical Genetics
Oct 2000,
37
(10)
e30;
DOI:
10.1136/jmg.37.10.e30
Mutation analysis in the candidate Möbius syndrome genes
PGT
and
GATA2
on chromosome 3 and
EGR2
on chromosome 10
B
van der Zwaag
,
H T F M
Verzijl
,
D
Beltran-Valero de Bernabe
,
V L
Schuster
,
H
van Bokhoven
,
H
Kremer
,
M
van Reen
,
G H
Wichers
,
H G
Brunner
,
G W
Padberg
Journal of Medical Genetics
Jun 2002,
39
(6)
e30;
DOI:
10.1136/jmg.39.6.e30
Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity
D
BARALLE
,
A M
DEARLOVE
,
R
BEACH
,
C
FFRENCH-CONSTANT
,
E
REID
Journal of Medical Genetics
Oct 2000,
37
(10)
e31;
DOI:
10.1136/jmg.37.10.e31
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