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BMJ Journals
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Journal of Medical Genetics
CLINICAL
Obstetrics and gynaecology
Reproductive medicine
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Reproductive medicine
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 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
Identification of
PTEN
mutations in metastatic melanoma specimens
Julide Tok
Çelebi
,
Igor
Shendrik
,
David N
Silvers
,
Monica
Peacocke
Journal of Medical Genetics
Sep 2000,
37
(9)
653-657;
DOI:
10.1136/jmg.37.9.653
JAGGED
1 expression in human embryos: correlation with the Alagille syndrome phenotype
E A
Jones
,
M
Clement-Jones
,
D I
Wilson
Journal of Medical Genetics
Sep 2000,
37
(9)
658-662;
DOI:
10.1136/jmg.37.9.658
A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25
David A
Cabezas
,
Rachel
Slaugh
,
Fatima
Abidi
,
J Fernando
Arena
,
Roger E
Stevenson
,
Charles E
Schwartz
,
Herbert A
Lubs
Journal of Medical Genetics
Sep 2000,
37
(9)
663-668;
DOI:
10.1136/jmg.37.9.663
Characterisation of the human
GFRα-3
locus and investigation of the gene in Hirschsprung disease
Chinedu I
Onochie
,
Lawrence M
Korngut
,
Judith B
Vanhorne
,
Shirley M
Myers
,
Denise
Michaud
,
Lois M
Mulligan
Journal of Medical Genetics
Sep 2000,
37
(9)
674-679;
DOI:
10.1136/jmg.37.9.674
Deletion (2)(p14p15) in a child with severe neurodevelopmental delay
ISAM M
AMIR
,
KHALIL I
AL-TAWIL
,
MUNEEF M
AL-HATHAL
Journal of Medical Genetics
Sep 2000,
37
(9)
e21;
DOI:
10.1136/jmg.37.9.e21
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
Achondroplasia and nail-patella syndrome: the compound phenotype
M J
WRIGHT
,
M C
AIN
,
M V
CLOUGH
,
G A
BELLUS
,
O
HURKO
,
I
MCINTOSH
Journal of Medical Genetics
Sep 2000,
37
(9)
e25;
DOI:
10.1136/jmg.37.9.e25
FISH deletion mapping defines a single location for the Y chromosome stature gene,
GCY
Stefan
Kirsch
,
B
Weiss
,
M
De Rosa
,
T
Ogata
,
G
Lombardi
,
G A
Rappold
Journal of Medical Genetics
Aug 2000,
37
(8)
593-599;
DOI:
10.1136/jmg.37.8.593
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