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Volume 33; Issue 5
Main
Clinical Genetics
Volume 33; Issue 5
Clinical Genetics
Volume 33; Issue 5
1
Isolated “clinical anophthalmia” in an extensively affected Arab kindred
Gertrude Kohn
,
Raghda El Shawwa
,
Eyyas El Rayyes
Journal:
Clinical Genetics
Year:
1988
Language:
english
File:
PDF, 244 KB
Your tags:
english, 1988
2
Higher resolution banding techniques in the clinical routine
Anna Latos-Bielenska
,
Horst Hameister
Journal:
Clinical Genetics
Year:
1988
Language:
english
File:
PDF, 399 KB
Your tags:
english, 1988
3
Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients
Marie T. Vanier
,
David A. Wenger
,
Marcella E. Comly
,
Robert Rousson
,
Roscoe O. Brady
,
Peter G. Pentchev
Journal:
Clinical Genetics
Year:
1988
Language:
english
File:
PDF, 1.05 MB
Your tags:
english, 1988
4
Counseling needs and attitudes toward prenatal diagnosis and abortion in fragile-X families
David L. Meryash
,
Dianne Abuelo
Journal:
Clinical Genetics
Year:
1988
Language:
english
File:
PDF, 502 KB
Your tags:
english, 1988
5
Partial 6p trisomy associated with infantile autism
Larry Burd
,
John T. Martsolf
,
Jacob Kerbeshian
,
S. M. Jalal
Journal:
Clinical Genetics
Year:
1988
Language:
english
File:
PDF, 315 KB
Your tags:
english, 1988
6
Enzyme replacement in Fabry endothelial cells and fibroblasts: uptake experiments and electron microscopical studies
L. Hasholt
,
A. Wandall
,
S. A. Sørensen
Journal:
Clinical Genetics
Year:
1988
Language:
english
File:
PDF, 1017 KB
Your tags:
english, 1988
7
16q21 is critical for 16q deletion syndrome
K. Naritomi
,
N. Shiroma
,
Y. Izumikawa
,
K. Sameshima
,
S. Ohdo
,
K. Hirayama
Journal:
Clinical Genetics
Year:
1988
Language:
english
File:
PDF, 259 KB
Your tags:
english, 1988
8
Km mutant of acid α-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement
Yoshiyuki Suzuki
,
Akihiko Tsuji
,
Kiyoshi Omura
,
Gen Nakamura
,
Shoichi Awa
,
Marian Kroos
,
Arnold J. J. Reuser
Journal:
Clinical Genetics
Year:
1988
Language:
english
File:
PDF, 672 KB
Your tags:
english, 1988
9
Partial trisomy 20q due to paternal t(8;20) translocation: Case report and review of the literature
G. Pierquin
,
C. Herens
,
P. Dodinval
,
J. Frederic
,
I. Weber
,
J. Senterre
,
J. P. Fryns
Journal:
Clinical Genetics
Year:
1988
Language:
english
File:
PDF, 210 KB
Your tags:
english, 1988
10
X-linked recessive aqueductal stenosis without macrocephaly
Richard I. Kelley
,
Michael T. Mennuti
,
William F. Hickey
,
Elaine H. Zackai
Journal:
Clinical Genetics
Year:
1988
Language:
english
File:
PDF, 313 KB
Your tags:
english, 1988
11
Mixed hearing loss in Larsen Syndrome
Christopher S. Stanley
,
James W. Thelin
,
Judith H. Miles
Journal:
Clinical Genetics
Year:
1988
Language:
english
File:
PDF, 287 KB
Your tags:
english, 1988
12
Announcements
Journal:
Clinical Genetics
Year:
1988
Language:
english
File:
PDF, 67 KB
Your tags:
english, 1988
13
Erratum
Journal:
Clinical Genetics
Year:
1988
File:
PDF, 32 KB
Your tags:
1988
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