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Volume 13; Issue 2
Main
Clinical Genetics
Volume 13; Issue 2
Clinical Genetics
Volume 13; Issue 2
1
Synthetic substrate ß-glucosidase activity in leukocytes: A reproducible method for the identification of patients and carriers of Gaucher's disease
David A. Wenger
,
Cameron Clark
,
Martha Sattler
,
Candace Wharton
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 523 KB
Your tags:
english, 1978
2
A new syndrome characterized by mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency
Lydia Aguilar
,
Rubén Lisker
,
J. Hernández-Peniche
,
C. Martínez-Villar
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 309 KB
Your tags:
english, 1978
3
Serial duplication of 10 (q11→q22) in a patient with minor congenital malformations
Walther Vogel
,
Elke Back
,
Winfried Imm
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 364 KB
Your tags:
english, 1978
4
Amniotic fluid cell mosaicism for presumptive trisomy 20
M. L. Rodriguhz
,
D. Luthy
,
J. G. Hall
,
T. H. Norwood
,
H. Hoehn
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 314 KB
Your tags:
english, 1978
5
Humero-radial synostosis
Rawatmal B. Surana
,
Stanley M. Sinkford
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 153 KB
Your tags:
english, 1978
6
Galactose-1-phosphate accumulation by a Duarte-transferase deficiency double heterozygote
Charles H. Wharton
,
Helen K. Berry
,
Mary K. Bofinger
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 330 KB
Your tags:
english, 1978
7
Familial syndrome of progressive cone dystrophy, degenerative liver disease and endocrine dysfunction : II. Clinical and metabolic studies
I. Frøyshov Larsen
,
E. Hansen
,
K. Berg
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 963 KB
Your tags:
english, 1978
8
Familial syndrome of progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction : III. Genetic studies
Kark Berg
,
Ingegerd Frøyshov Larsen
,
Egill Hansen
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 678 KB
Your tags:
english, 1978
9
Osteopathia striata with cranial sclerosis. An autosomal dominant entity
F. T. Horan
,
P. H. Beighton
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 347 KB
Your tags:
english, 1978
10
Cystic fibrosis liver sialyltransferase
Jack A. Alhadeff
,
George Cimino
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 353 KB
Your tags:
english, 1978
11
Fine structure alterations of elastic fibers in pseudoxanthoma elasticum
Russell Ross
,
Philip J. Fialkow
,
Lawrence K. Altman
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 1.00 MB
Your tags:
english, 1978
12
Prenatal diagnosis of 5p-
Karen David
,
Sara Kaffe
,
Lotte Strauss
,
Lillian Y. F. Hsu
,
Andrea Serotkin
,
Kurt Hirschhorn
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 406 KB
Your tags:
english, 1978
13
Observations of ridge appearances in a normal population and in Down syndrome patients (21-trisomy) using the scanning electron microscope: Preliminary report
Hiroshi Shiono
,
Shigeru Muraoka
,
Hishashi Kazama
,
Jun-ichi Kadowaki
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 481 KB
Your tags:
english, 1978
14
Double pre-ß lipoprotein in ischaemic heart disease
A. D. Postle
,
J. M. Darmady
,
D. C. Siggers
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 212 KB
Your tags:
english, 1978
15
Two cases of an abnormal short arm of chromosome 8 (8p+) associated with mental retardation
Karin Hongell
,
Sakari Knuutila
,
Thomas Westermarck
Journal:
Clinical Genetics
Year:
1978
Language:
english
File:
PDF, 324 KB
Your tags:
english, 1978
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