Volume 37; Issue 6

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Clinical Genetics
Volume 37; Issue 6

Clinical Genetics

Volume 37; Issue 6

1

Marfan syndrome: a diagnostic dilemma

Denis Viuoen, Peter Beighton

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 359 KB

english, 1990

2

A familial interstitial deletion of the long arm of chromosome 21

B. Roland, D. M. Cox, D. I. Hoar, S. B. Fowlow, A. S. Robertson

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 459 KB

english, 1990

3

Monozygotic twins concordant for Rubinstein-Taybi syndrome

Qais Ghanem, Saleh Dawod

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 557 KB

english, 1990

4

Frequency and effects of the apolipoprotein A-IV polymorphism

Sophia Visvikis, Josiane Steinmetz, Eric Boerwinkle, René Gueguen, Marie-Madeleine Galteau, Gérard Siest

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 528 KB

english, 1990

5

Haplotype analysis for CF-linked DNA polymorphisms in Switzerland

S. Liechti-Gallati, B. U. Niederer, V. Schneider, M. Mächler, M. Alkan, N. Malik, S. Braga, H. Moser

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 467 KB

english, 1990

6

In situ hybridization analysis of isodicentric X-chromosomes with short arm fusion

Jørn E. Koch, Steen Kølvraa, Jens M. Hertz, Kirsten Rasmussen, Niels Gregersen, Gerner F. Fly, Lars A. Bolund

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 385 KB

english, 1990

7

Intragenic deletions in 164 boys with Duchenne muscular dystrophy (DMD) studied with dystrophin cDNA

M. Upadhyaya, R. A. Smith, N. S. T. Thomas, A. M. Norman, P. S. Harper

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 377 KB

english, 1990

8

Rate of recombination of chromosomes 21 in parents of children with Down syndrome

A. J. H. Hamers, H. Meyer, R. J. E. Jongbloed, R. R. W. J. van der Hulst, J. P. M. Geraedts

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 395 KB

english, 1990

9

The cis-configuration effects of rare chromosomal fragile sites

Gilbert B. Côté

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 203 KB

english, 1990

10

Restriction site polymorphism at the LPA (Lp(a) apoliprotein; apoliprotein(a)) locus

Kåre Berg, Ikuko Kondo, Dennis Drayna, Richard Lawn

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 549 KB

english, 1990

11

Robinow syndrome: report of two patients with cystic kidney disease

Lynn Wiens, D. K. Strickland, Barbara Sniffen, Bradley A. Warady

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 350 KB

english, 1990

12

High urinary excretion of N-(pyrrole-2-carboxyl) glycine in type II hyperprolinemia

Moacir Wajner, Clóvis M. D. Wannmacher, Paul Purkiss

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 334 KB

english, 1990

13

Duplication 3p and cyclopia

B. Dallapiccola, G. Ferranti

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 136 KB

english, 1990

14

Neurodevelopmentai models of mental illness

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 145 KB

english, 1990

15

Real effects of consanguinity

Nurettin Basaran

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 78 KB

english, 1990

16

Fraser syndrome and mouse ‘bleb’ mutants

Robin M. Winter

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 98 KB

english, 1990

17

Announcements

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 50 KB

english, 1990