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Volume 32; Issue 6
Main
Clinical Genetics
Volume 32; Issue 6
Clinical Genetics
Volume 32; Issue 6
1
Elevated 1,25-dihydroxyvitamin D and normocalcaemia in presumed familial Williams syndrome
J. Knudtzon
,
L. Aksnes
,
L. A. Akslen
,
D. Aarskog
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 549 KB
Your tags:
english, 1987
2
Distal symphalangism with involvement of the thumbs and great toes
S. Matthews
,
S. Farnish
,
I. D. Young
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 319 KB
Your tags:
english, 1987
3
Trisomy 18 clustering in Kuwait
Kamal K. Naguib
,
Sadika A. Al-Awadi
,
M. J. Marafie
,
S. Y. Al-Huji
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 260 KB
Your tags:
english, 1987
4
A boy with Down's syndrome having recombinant chromosome 21 but no SOD-1 excess
Kiyoshi Miyazaki
,
Tsutomu Yamanaka
,
Nobuaki Ogasawara
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 440 KB
Your tags:
english, 1987
5
A peculiar subphenotype in the fra(X) syndrome: extreme obesity-short stature-stubby hands and feet-diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome?
J. P. Fryns
,
M. Haspeslagh
,
A. M. Dereymaeker
,
Ph. Volcke
,
H. van den Berghe
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 440 KB
Your tags:
english, 1987
6
Postmortem Menkes diagnosis from carrier testing of female relatives
T. Tønnesen
,
M. Siengo
,
A.-M. Gerdes
,
J. C. Hansen
,
E. Reske-Nielsen
,
P. Francescmni
,
N. Horn
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 361 KB
Your tags:
english, 1987
7
Isolated autosomal recessive renal magnesium loss in two sisters
W. B. Geven
,
L. A. H. Monnens
,
J. L. Willems
,
W. Buijs
,
C. J. Hamel
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 277 KB
Your tags:
english, 1987
8
Gamma-glutamyl transferase activity in the amniotic fluid of fetuses with chromosomal aberrations and inborn errors of metabolism
M. Macek
,
G. Annerén
,
K. H. Gustavson
,
K. Held
,
H. Tomášová
,
J. Hronková
,
J. Burjanková
,
I. Hrycejová
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 399 KB
Your tags:
english, 1987
9
On the origin of recurrent trisomy 21: determination using chromosomal and DNA polymorphisms
A. J. H. Hamers
,
G. P. M. Vaes-Peeters
,
R. J. E. Jongbloed
,
A. M. Millington-Ward
,
H. Meujer
,
C. E. M. De Die-Smulders
,
J. P. M. Geraedts
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 365 KB
Your tags:
english, 1987
10
Unusual pedigree patterns in families with spinal muscular atrophy
Angela E. Lin
,
Kenneth L. Garverl
,
Henry Wessel
,
Bashar Katirji
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 107 KB
Your tags:
english, 1987
11
A boy with thanatophoric dysplasia surviving 212 days
Hidefumi Tonoki
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 194 KB
Your tags:
english, 1987
12
Convoluted cells as a marker for maternal cell contamination in CVS culture
Richard Penketh
,
Joy Delhanty
,
Heather Cooke
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 66 KB
Your tags:
english, 1987
13
What is the ichthyosis in the so-called ichthyosis-cheek-eyebrow (ICE) syndrome?
Heiko Traupe
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 64 KB
Your tags:
english, 1987
14
18ph+ is a so-called normal chromosomal variant
Ram S. Verma
,
Arvind Babu
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 119 KB
Your tags:
english, 1987
15
Similar facia! anomalies in patients with dicentric Y and long arm Y deletion
N. Fitch
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 49 KB
Your tags:
english, 1987
16
Deletion of the DXS165 locus in patients with classical Choroideremia
F.P.M. Cremers
,
F. Brunsmann
,
T.J.R. van de Pol
,
I.H. Pawlowitzki
,
K. Paulsen
,
B. Wieringa
,
H.H. Ropers
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 195 KB
Your tags:
english, 1987
17
Announcements
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 49 KB
Your tags:
english, 1987
18
Erratum
Journal:
Clinical Genetics
Year:
1987
Language:
english
File:
PDF, 41 KB
Your tags:
english, 1987
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