Volume 44; Issue 1

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Clinical Genetics
Volume 44; Issue 1

Clinical Genetics

Volume 44; Issue 1

1

Familial bilateral antecubital pterygia with severe renal involvement in nail-patella syndrome

R. Rizzo, L. Pavone, G. Micali, J. G. Hall

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 840 KB

english, 1993

2

Prenatal diagnosis of congenital sialidosis

N. Sasagasako, S. Miyahara, N. Saito, N. Shinnoh, T. Kobayashi, I. Goto

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 507 KB

english, 1993

3

Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients

Kristin Eiklid, Lisbeth Tranebjærg, Hans G. Eiken, Jan C. Pedersen, Helge Michalsen, Gjermund Fluge, Marianne Schwartz, Bjørn R. Nilsen, Roald Bolle, Dag Skyberg, Helge Boman, Kare Berg

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 201 KB

english, 1993

4

Congenital contractural arachnodactyly in two double second cousins: possible homozygosity

Tzvy Bistritzer, Kalman Fried, Eli Lahat, Michaela Dvir, Michael Goldberg

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 608 KB

english, 1993

5

Craniofacial anthropometric studies in Waardenburg syndrome type I

Elias O. Da-Silva, Jose E. M. Batista, Marco A. B. Medeiros, Sônia M. S. Fonteles

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 596 KB

english, 1993

6

Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS

Carsten A. Brandt, Ole Kierkegaard, Johnny Hindkjær, Peter K. A. Jensen, Søren Pedersen, Aage J. Therkelsen

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 659 KB

english, 1993

7

A family study on isolated congenital radial and tibial deficiencies in Hungary, 1975–1984

A. E. Czeizel, M. Vitéz, I. Kodaj, W. Lenz

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 443 KB

english, 1993

8

Proposed: an international code of ethics for medical genetics

Dorothy C. Wertz, John C. Fletcher

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 605 KB

english, 1993

9

A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families

Michal Witt, Jadwiga Jaruzelska, Izabela Kuczora, Renata Matuszak, Wojciech Cichy, Krzysztof Borski

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 242 KB

english, 1993

10

Frontonasal malformation and reciprocal translocation t(15;22)(q22;q13)

J. P. Fryns, A. Kleczkowska, H. van den Berghe

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 159 KB

english, 1993

11

Phenotypic intrafamilial heterogeneity in cystic fibrosis

G. Borgo, G. Cabrini, G. Mastella, P. Ronchetto, M. Devoto, G. Romeo

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 174 KB

english, 1993

12

The breakpoints of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization

Yoshimitsu Fukushima, Hirofumi Ohashi, Tomonobu Hasegawa

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 82 KB

english, 1993

13

Malignant lymphoma in a Bloom's syndrome patient treated with insulin

Naomi Kondo, Yukiji Yamada, Junichi Asano, Yoshikazu Yagi, Tadao Orii

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 112 KB

english, 1993

14

Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25

Alina T. Midro, Krystyna Debek, Anna Sawicka, Danuta Marcinkiewicz, Marianna Rogowska

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 342 KB

english, 1993

15

Announcement

Journal:

Clinical Genetics

Year:

1993

File:

PDF, 25 KB

1993