Volume 27; Issue 1

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Clinical Genetics
Volume 27; Issue 1

Clinical Genetics

Volume 27; Issue 1

1

Balanced reciprocal translocations: risk factors for aneuploid segregant viability

John R. Davis, Beverly Barton Rogers, Roberta M. Hagaman, Cole A. Thies, Iris C. Veomett

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 1.25 MB

english, 1985

2

Biochemical studies in Niemann-Pick disease. III: In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease

Marie T. Vanier, Robert Rousson, Isabelle Garcia, Geneviève Bailloud, Marie-Christine Juge, A. Revol, P. Louisot

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 828 KB

english, 1985

3

The relative risk for standard 21 trisomy has not increased in young mothers in Belgium, 1960–1978

G. Evers-Kiebooms, R. Vlietinck, H. van den Berghe

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 633 KB

english, 1985

4

HLA-DR antigens and phenotypes in Dutch coeliac children and their families

M. L. Mearin, J. Bouquet, N. Mourad, E. Schoorel, M. Sinaasappel, I. Biemond, G. M. Th. Schreuder, A. S. P&lt, sc&gt, EÑA, H. H. van Gelderen, J. J. van Rood

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 360 KB

english, 1985

5

Sister chromatid exchange with and without in vitro mutagen induction in cultured skin fibroblasts from patients with adenomatosis of the colon and rectum

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 508 KB

english, 1985

6

Survival in trisomy 18: Life tables for use in genetic counselling and clinical paediatrics

P. E. Carter, J. H. Pearn, J. Bell, N. Martin, N. G. Anderson

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 196 KB

english, 1985

7

Diabetes mellitus in Huntington disease

Lindsay A. Farrer

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 392 KB

english, 1985

8

Genetic counseling for autosomal dominant diseases with a negative family history

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 222 KB

english, 1985

9

5-azacytidine treatments in the characterization of a t(1;21)(q12;q22) carrier karyotype

D. Schindler, T. Haaf, M. Schmid

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 479 KB

english, 1985

10

Late onset GM2 gangliosidosis: an α-locus genetic compound with near normal hexosaminidase activity

Joel Charrow, Koji Inui, David A. Wenger

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 467 KB

english, 1985

11

A new nail dysplasia syndrome with onychonychia and absence and/or hypoplasia of distal phalanges

Roberta Goldshlag Cooks, Marjorie Hertz, Marissa Bat Miriam Katznelson, Richard M. Goodman

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 522 KB

english, 1985

12

Trisomy 10 mosaicism in a newborn boy; delineation of the syndrome

H. F. de France, F. A. Beemer, R. Ch. Senders, S. C. E. Schaminee-Main

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 393 KB

english, 1985

13

Karsch-Neugebauer syndrome: split foot/split hand and congenital nystagmus

Robert T. Pilarski, Richard M. Pauli, George H. Bresnick, Ruth M. Lebovitz

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 348 KB

english, 1985

14

Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome

D. G. Starr, J. P. McClure, J. M. Connor

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 186 KB

english, 1985

15

De novo t(4;5) (q3100; q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment

Horacio Rivera, Araceli Rolón, José Sánchez-Corona, José María Cantú

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 288 KB

english, 1985

16

Letter to the Editors

Fiorella Shabtai, Jacob Hart, Isaac Halbrecht

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 113 KB

english, 1985

17

Announcement

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 34 KB

english, 1985

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

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