Volume 41; Issue 6

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Clinical Genetics
Volume 41; Issue 6

Clinical Genetics

Volume 41; Issue 6

1

Familial spastic paraplegia with neuropathy and poikiloderma. A new syndrome?

G. Antiñolo, M. Nieto, S. Borrego, J. Sierra, M. Rufo, M. L. Siljeström

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 450 KB

english, 1992

2

20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome

P. Grammatico, F. Cupilari, C. Di Rosa, M. Falcolini, G. Del Porto

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 410 KB

english, 1992

3

Identical twins with an autosomal recessive form of spondylocostal dysostosis

M. Satar, M. N. Kozanoḡlu, L. Atilla

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 349 KB

english, 1992

4

A syndrome of progressive sensorineural deafness and cataract inherited as an autosomal dominant trait

A. Guala, V. Germinetti, F. Sebastiani, M. C. Silengo

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 235 KB

english, 1992

5

Hair-nail dysplasia - a new pure autosomal dominant ectodermal dysplasia

Marta Pinhairo, Newton Freire-Maia

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 394 KB

english, 1992

6

Intrachromosomal insertion of chromosome 7

Sandra A. Farrell, Grace Chow

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 316 KB

english, 1992

7

Differentiated recurrence risk estimations in the Prader-Willi syndrome

Ingo Kennerknecht

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 550 KB

english, 1992

8

Cytogenetic and dermatoglyphic findings in a familial case of hypomelanosis of Ito (incontinentia pigmenti achromians)

Walter Vormittag, Christian Ensinger, Manfred Raff

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 475 KB

english, 1992

9

Population variation and genetics of plasma homocyst(e)ine level

Káro Berg, M. Rans Malinow, Pater Kiarulf, Barbara Upson

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 650 KB

english, 1992

10

Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin

Jacquie Gresnbarg, Michelle Babaya, Raj Ramasar, Pater Beighton

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 362 KB

english, 1992

11

One hundred requests for predictive testing for Huntington's disease

Sheila A. Simpson, Jahn Basson, David Alexander, Kathryn Allan, Alan W. Johnston

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 428 KB

english, 1992

12

Human β-mannosidosis: a 3-year-old boy with speech impairment and emotional instability

Livia Poenaru, Saïd Akli, Francis Rocchiccioli, Fatrica Eydoux, Pierre Zamet

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 357 KB

english, 1992

13

Chromosomal aberrations in Sotos syndrome

Masato Tsukahara, Tadashi Kajii

Journal:

Clinical Genetics

Year:

1992

File:

PDF, 33 KB

1992

14

Announcements

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 64 KB

english, 1992