Volume 45; Issue 2

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Clinical Genetics
Volume 45; Issue 2

Clinical Genetics

Volume 45; Issue 2

1

Chromosome instability in lymphocytes from patients with celiac disease

A. F. Fundia, M. B. González Cid, J. Bai, J. C. Gómez, R. Mazure, K. Vazquez, I. B. Larripa, I. R. Slavutsky

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 497 KB

english, 1994

2

Metaphase quality can be monitored by automatic counting of bands

C. Lundsteen, J. Maahr, T. Gerdes

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 546 KB

english, 1994

3

A fluorescent in situ hybridization analysis of the chromosome constitution of ejaculated sperm in a 47, XYY male

Tie Lan Han, Judith H. Ford, Sean P. Flaherty, Graham C. Webb, Colin D. Matthews

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 416 KB

english, 1994

4

Minimal genetic influences on plasma fibrinogen level in adult males in the NHLBI twin study

Terry Reed, Russell P. Tracy, Richard R. Fabsitz

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 684 KB

english, 1994

5

Apolipoprotein B gene polymorphisms in ischemic heart disease and hypercholesterolemia: effects of age and sex

P. S. Hansen, I. C. Klausen, L. Lemming, L. U. Gerdes, N. Gregersen, O. Faergeman

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 624 KB

english, 1994

6

An 87 bp deletion in exon 5 of the LDL receptor gene in a mother and her son with familial hypercholesterolemia

Gregor Schlüter, Ursula Wick

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 406 KB

english, 1994

7

The gene for familial dystonia with myoclonic jerks responsive to alcohol is not located on the distal end of 9q

J. Wahlström, L Ozelius, P. Kramer, M. Kyllerman, D. Schuback, L. Forsgren, G. Holmgren, U. Drugge, G. Sanner, S. Fahn, X. O. Breakefield

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 493 KB

english, 1994

8

A woman with an apparent non-mosaic 45,X delivered a 46,X,der(X) liveborn female

G. Palka, G. Calabrese, L. Stuppia, P. Guanciali Franchi, E. Morizio, R. Peila, A. Antonucci

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 392 KB

english, 1994

9

Duchenne muscular dystrophy and spinal muscular atrophy type I segregating in the same family

Anders Oldfors, Tommy Martinsson, Ingemar Tessin, Jan Wahlström, Shu Wang

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 821 KB

english, 1994

10

Non-expression of von Hippel-Lindau phenotype in an obligate gene carrier

D. R. Davies, A. M. Norman, R. W. Whitehouse, D. G. R. Evans

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 226 KB

english, 1994

11

Roberts-SC phocomelia syndrome: a case with additional anomalies

Mehmet Satar, Aytuğ Atici, Ufuk Bişak, Nurdan Tunali

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 156 KB

english, 1994

12

A new human mtDNA polymorphism: tRNAGln/4336 (T→C)

David Leroy, Seren Nerby

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 102 KB

english, 1994

13

Autosomal dominant inheritance of thyroglossal duct cyst

S. Castillo-Taucher, P. Castillo

Journal:

Clinical Genetics

Year:

1994

Language:

english

File:

PDF, 101 KB

english, 1994

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