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BMJ Journals
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Journal of Medical Genetics
CLINICAL
Diagnostics
Clinical diagnostic tests
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Clinical diagnostic tests
A new case of Yq microdeletion transmitted from a normal father to two infertile sons
V
Gatta
,
L
Stuppia
,
G
Calabrese
,
E
Morizio
,
P
Guanciali-Franchi
,
G
Palka
Journal of Medical Genetics
Jun 2002,
39
(6)
e27;
DOI:
10.1136/jmg.39.6.e27
Klinefelter-like phenotype and primary infertility in a male with a paracentric Xq inversion
A H
Németh
,
I W
Gallen
,
M
Crocker
,
E
Levy
,
E
Maher
Journal of Medical Genetics
Jun 2002,
39
(6)
e28;
DOI:
10.1136/jmg.39.6.e28
Xp;Yp translocation inherited from the father in an
SRY
,
RBM
, and
TSPY
positive true hermaphrodite with oligozoospermia
LUCJUSZ
JAKUBOWSKI
,
ANNA
JEZIOROWSKA
,
MARIA
CONSTANTINOU
,
ZOFIA
HELSZER
,
ANNETTE
BAUMSTARK
,
WALTHER
VOGEL
,
DIANA
MIKIEWICZ-SYGULA
,
BOGDAN
KAULZEWSKI
Journal of Medical Genetics
Oct 2000,
37
(10)
e28;
DOI:
10.1136/jmg.37.10.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
Novel
TBX5
mutations and molecular mechanism for Holt-Oram syndrome
C
Fan
,
M A
Duhagon
,
C
Oberti
,
S
Chen
,
Y
Hiroi
,
I
Komuro
,
P I
Duhagon
,
R
Canessa
,
Q
Wang
Journal of Medical Genetics
Mar 2003,
40
(3)
e29;
DOI:
10.1136/jmg.40.3.e29
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
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
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
A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH
Sarah L
Dee
,
Andrew T
Clark
,
Lionel R
Willatt
,
John R W
Yates
Journal of Medical Genetics
Sep 2001,
38
(9)
e32;
DOI:
10.1136/jmg.38.9.e32
A second heterozygous
MDR3
nonsense mutation associated with intrahepatic cholestasis of pregnancy
C
Gendrot
,
Y
Bacq
,
M-C
Brechot
,
J
Lansac
,
C
Andres
Journal of Medical Genetics
Mar 2003,
40
(3)
e32;
DOI:
10.1136/jmg.40.3.e32
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