Volume 38; Issue 5

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Clinical Genetics
Volume 38; Issue 5

Clinical Genetics

Volume 38; Issue 5

1

Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity

M. Genuardi, M. Zollino, A. Bellussi, W. Fuhrmann, G. Neri

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 601 KB

english, 1990

2

Fetal hydrops in Sardinia: implications for genetic counselling

R. Galanello, M. A. Sanna, L. Maccioni, D. Gasperini, M. A. Melis, C. Rosatelli, G. Monni, A. Cao

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 363 KB

english, 1990

3

Genetic marker family studies in familial Mediterranean fever (FMF) in Armenians

T. Shohat, G. M. Petersen, R. S. Sparkes, D. Langfield, J. Bickal, J. R. Korenberg, A. D. Schwabe, J. I. Rotter

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 435 KB

english, 1990

4

Amniotic fluid microvillar enzyme activity in fetal malformations

Mária Szabó, Lajos Veress, Farkas Teichmann, Åkos Münnich, Mariann Huszka, Zoltán Papp

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 346 KB

english, 1990

5

A new syndrome of aphalangy, hemivertebrae, and urogenital-intestinal dysgenesis

Virginia P. Johnson, David P. Munson

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 868 KB

english, 1990

6

A familial form of convulsive disorder with or without mental retardation limited to females: extension of a pedigree limits possible genetic mechanisms

Keith Fabisiak, Robert P. Erickson

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 420 KB

english, 1990

7

Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance

L. van Maldergem, Y. Gillerot, M. Godhaird, E. Nemec, L. Koulischer

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 264 KB

english, 1990

8

Neurofibromatosis 2: a clinically and genetically heterogeneous disease? Report on 10 sporadic cases

L. Mayfrank, B. Wullich, G. Wolff, J. Finke, E. Gouzoulis, J. M. Gilsbach

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 536 KB

english, 1990

9

Three years' diagnostic experience with direct karyotyping of neonatal blood

I. Garnham, G. R. Sutherland

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 167 KB

english, 1990

10

Autosomal dominant craniosynostosis of the sutura metopica

Raoul C. M. Hennekam, Marie-Jose van den Boogaard

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 426 KB

english, 1990

11

The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child

R. Gillis, A. Klar, E. Gross-Kieselstein

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 427 KB

english, 1990

12

Cardio-facio cutaneous syndrome: neurological manifestations

Varda Gross-Tsur, Eva Gross-Kieselstein, Naomi Amir

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 324 KB

english, 1990

13

Diabetes mellitus in a young man with Bloom's syndrome

Seiji Mori, Naomi Kondo, Fumiaki Motoyoshi, Seiji Yamaguchi, Hideo Kaneko, Tadao Orii

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 309 KB

english, 1990

14

Partial lipodystrophy syndromes – a further male case

W. Reardon, I. K. Temple, H. Mackinnon, J. V. Leonard, M. Baraitser

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 448 KB

english, 1990

15

Letters to the Editors

Journal:

Clinical Genetics

Année:

1990

Langue:

english

Fichier:

PDF, 375 KB

english, 1990