Volume 32; Issue 5

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Clinical Genetics
Volume 32; Issue 5

Clinical Genetics

Volume 32; Issue 5

1

Linkage of G8 (D4S10) in two Swedish families with Huntington's disease

G. Holmgren, E. Winnberg Almqvtst, M. Anyret, M. Conneally, W. Hobbs, B. Mattsson, J. Wahlström, B. Winblad, J. F. Gusella

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 433 KB

english, 1987

2

Prader-Willi syndrome in two siblings: one with normal karyotype, one with a terminal deletion of distal Xq

Tatsuya Ishikawa, Manabu Kanayama, Yoshiro Wada

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 365 KB

english, 1987

3

Homozygous variegate porphyria A severe skin disease of Infancy

Pertti Mustajoki, Raimo Tenhunen, Kirsti Maria Niemi, Yves Nordmann, Helena Kääriäinen, Reijo Norio

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 457 KB

english, 1987

4

New type of spinocerebellar degeneration syndrome in a northern Swedish population

K.-H. Gustavson, K. Modrzewska, A. Erikson, U. Andersson

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 470 KB

english, 1987

5

Progressive mental regression in siblings with Morquio disease Type B (mucopolysaccharidosis IV B)

R. Giuguani, M. Jackson, S. J. Skinner, C. M. Vimal, A. H. Fensom, N. Fahmy, A. Sjövall, P. F. Benson

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 1.08 MB

english, 1987

6

X-linked dysmorphic syndrome with mental retardation

F. Prieto, L. Badía, F. Mulas, A. Monfort, F. Mora

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 807 KB

english, 1987

7

Familial dysbetalipoproteinemic subjects with the E3/E2 phenotype exhibit an E2 isoform with only one cysteine residue

Maruke Smit, Peter de Knuff, Rune R. Frants, Eduard C. Klasen, Louis M. Havekes

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 552 KB

english, 1987

8

Free proximal trisomy 21 without the Down syndrome

Jonathan P. Park, Doris H. Wurster-Hill, Patricia A. Andrews, William C. Cooley, John M. Graham

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 536 KB

english, 1987

9

A rapid and efficient screening method for DNA restriction fragment length polymorphisms

Thomas L. J. Boehm, Andreas Werle, Dusan Drahovsky

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 464 KB

english, 1987

10

A new autosomal dominant craniofacial deafness syndrome

S. Kassutto, Z. Kassutto, T. Ben-Ami, R. M. Goodman

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 412 KB

english, 1987

11

X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type)

Alan E. H. Emery

Journal:

Clinical Genetics

Year:

1987

Language:

english

File:

PDF, 502 KB

english, 1987