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Volume 38; Issue 2
Main
Clinical Genetics
Volume 38; Issue 2
Clinical Genetics
Volume 38; Issue 2
1
Spinal muscular atrophy type I combined with atrial septal defect in three sibs
P. Møller
,
N. Moe
,
O. D. Saugstad
,
K. Skullerud
,
M. Velken
,
K. Berg
,
S. Nitter-Hauge
,
A.-L. Børresen
Journal:
Clinical Genetics
Year:
1990
Language:
english
File:
PDF, 202 KB
Your tags:
english, 1990
2
Rhizomelic chondrodysplasia punctata and survival beyond one year: a review of the literature and five case reports
T. D. Wardinsky
,
R. A. Pagon
,
B. R. Powell
,
B. McGillivray
,
M. Stephan
,
J. Zonana
,
A. Moser
Journal:
Clinical Genetics
Year:
1990
Language:
english
File:
PDF, 997 KB
Your tags:
english, 1990
3
Exclusion mapping of 12 X-linked disease loci and 10 DNA probes from the long arm of the X-chromosome
H.-M. Yang
,
T. Lund
,
E. Niebuhr
,
S. Nørby
,
M. Schwartz
,
L. Shen
Journal:
Clinical Genetics
Year:
1990
Language:
english
File:
PDF, 780 KB
Your tags:
english, 1990
4
Heart-hand syndrome II. A report of Tabatznik syndrome with new findings
Margherita C. Silengo
,
M. Biagioli
,
A. Guala
,
Graciela Lopez-Bell
,
R. Lala
Journal:
Clinical Genetics
Year:
1990
Language:
english
File:
PDF, 1.19 MB
Your tags:
english, 1990
5
Morphologic variants in parents of children with malformation syndromes: are they indicators of somatic mosaicism?
Károly Méhes
,
György Kosztolányi
Journal:
Clinical Genetics
Year:
1990
Language:
english
File:
PDF, 198 KB
Your tags:
english, 1990
6
Right-sided microtia and conductive hearing loss with variable expressivity in three generations
Karen Helene Ørstavik
,
Sverre Medbø
,
Iain W. S. Mair
Journal:
Clinical Genetics
Year:
1990
Language:
english
File:
PDF, 403 KB
Your tags:
english, 1990
7
Partial trisomy 4p resulting from a balanced intrachromosomal insertion, 4(q313p14p16)
Rosalind Hastings
,
Beverley Hamer
,
Simon Roth
,
Mary Lucas
Journal:
Clinical Genetics
Year:
1990
Language:
english
File:
PDF, 351 KB
Your tags:
english, 1990
8
Disomic balanced reciprocal translocation
Patrick L. Wilmot
,
Lawrence R. Shapiro
,
Anthony C. Casamassima
Journal:
Clinical Genetics
Year:
1990
Language:
english
File:
PDF, 148 KB
Your tags:
english, 1990
9
Incontinentia pigmenti: XXY male with a family history
J. García-Dorado
,
P. de Unamuno
,
E. Fernández-López
,
J. Salazar Veloz
,
M. Armijo
Journal:
Clinical Genetics
Year:
1990
Language:
english
File:
PDF, 953 KB
Your tags:
english, 1990
10
The Proteus syndrome: association with nephrogenic diabetes insipidus
Gökhan S. Hotamisligil
,
Fadil Ertogan
Journal:
Clinical Genetics
Year:
1990
Language:
english
File:
PDF, 566 KB
Your tags:
english, 1990
11
Congenital tracheal stenosis in Pfeiffer syndrome
Pamela Stone
,
Cynthia L. Trevenen
,
Ian Mitchell
,
Noreen Rudd
Journal:
Clinical Genetics
Year:
1990
Language:
english
File:
PDF, 352 KB
Your tags:
english, 1990
12
Megalocornea, macrocephaly, mental and motor retardation (MMMM)
M. Frydman
,
M. Berkenstadt
,
A. Raas-Rothschild
,
R. M. Goodman
Journal:
Clinical Genetics
Year:
1990
Language:
english
File:
PDF, 484 KB
Your tags:
english, 1990
13
Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion
E. Legius
,
E. Baten
,
M. Stul
,
P. Marynen
,
J.-J. Cassiman
Journal:
Clinical Genetics
Year:
1990
Language:
english
File:
PDF, 323 KB
Your tags:
english, 1990
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