Volume 19; Issue 1

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Clinical Genetics
Volume 19; Issue 1

Clinical Genetics

Volume 19; Issue 1

1

Slowly progressive autosomal dominant spastic paraplegia with late onset, variable expression and reduced penetrance: a basis for diagnosis and counseling

Allan B. Burdick, Lester A. Owens, Charles R. Peterson

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 404 KB

english, 1981

2

Family analysis of Werner's syndrome: A survey of 42 Japanese families with a review of the literature

Makoto Goto, Kiyoaki Tanimoto, Yoshihiko Horiuchi, Takehiko Sasazuki

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 411 KB

english, 1981

3

Prenatal diagnosis of Gaucher disease Assay of the ß-glucosidase activity in amniotic fluid cells cultivated in two laboratories with different cultivation conditions

Lars Svennerholm, Gunilla Håkansson, Jan Lindsten, Jan Wahlström, Sten Dreborg

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 413 KB

english, 1981

4

Spondylocostal dysostosis in South African sisters

P. Beighton, F. T. Horan

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 232 KB

english, 1981

5

Automatic chromosome analysis : II. Karyotyping of banded human chromosomes using band transition sequences

Claes Lundsteen, Tommy Gerdes, Erik Granum, John Philip, Kim Philip

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 555 KB

english, 1981

6

Trisomy 3 mosaicism in a live-born infant

C. Metaxotou, Ch. Tsenghi, I. Bitzos, M. Strataki-Benetou, A. Kalpini-Mavrou, N. Matsaniotis

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 324 KB

english, 1981

7

Abnormality of chromosome 16 and its phenotypic expression

N. L. Golden, R. Bilenker, W. E. Johnson, J. A. Tischfield

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 345 KB

english, 1981

8

Familial additional chromosomal fragment ascertained in amniotic cell culture

H. Haas-Andela, S. Hansen, W. Foerster, W. Fuhrmann

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 302 KB

english, 1981

9

In utero diagnosis of achondrogenesis, type I

Wilbur L. Smith, Thomas D. Breitweiser, Nuhad Dinno

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 346 KB

english, 1981

10

Identification of heterozygotes for glycogenosis 2 (Acid maltase deficiency)

M. C. B. Loonen, A. W. Schram, J. F. Koster, M. F. Niermeijer, H. F. M. Busch, J. J. Martin, B. Brouwer-Kelder, W. Mekes, R. G. Slee, J. M. Tager

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 538 KB

english, 1981

11

Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 194 KB

english, 1981

12

Apparent influence of marker genotypes on variation in serum cholesterol in monozygotic twins

P. Magnus, K. Berg, A.-L. Børresen, W. E. Nance

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 208 KB

english, 1981

13

Roberts's syndrome : II. Aberrant Y-chromosome behavior

Elaine Louie, James German

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 256 KB

english, 1981

14

Familial sex chromosome mosaicism (yes) and interchromosomal effects (no)

Frederick Hecht

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 110 KB

english, 1981

15

International Conference on Dermatoglyphics

Journal:

Clinical Genetics

Year:

1981

Language:

english

File:

PDF, 113 KB

english, 1981