Volume 60; Issue 4

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Human Genetics
Volume 60; Issue 4

Human Genetics

Volume 60; Issue 4

1

Meiotic and synaptonemal complex studies in 45 subfertile males

F. Vidal, C. Templado, J. Navarro, S. Brusadin, S. Marina, J. Egozcue

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 430 KB

english, 1982

2

Genetic aspects of nonchromaffin paraganglioma

Frank Baars, Cor Cremers, Paul Broek, Sipke Geerts, Jan Veldman

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 433 KB

english, 1982

3

Cell morphology in long-term cultures of normal and abnormal amniotic fluids

P. Medina-Gómez, T. H. Johnston

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 452 KB

english, 1982

4

Peculiar findings in a family with keratodermia palmo-plantaris papulosa buschke-fischer-brauer

T. Šalamon, V. Stolié, O. Lazovié-Tepavac, D. Bošnjak

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 715 KB

english, 1982

5

Intracellular phenylalanine and tyrosine concentration in homozygotes and heterozygotes for phenylketonuria (PKU) and hyperphenylalaninemia compared with normals

O. Thalhammer, G. Lubec, Helga Königshofer, Susanne Scheibenreiter, H. Coradello

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 224 KB

english, 1982

6

Fragile site Xq27 and mental retardation. Clinical and cytogenetic manifestation in heterozygotes and hemizygotes of five kindreds

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 558 KB

english, 1982

7

A simple reproducible method for prometaphase chromosome analysis

Joseph Rybak, Avirachan Tharapel, Sheldon Robinett, Mary Garcia, Carl Mankinen, Mahlon Freeman

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 645 KB

english, 1982

8

Polymorphisms of Ag-stained nucleolar organizer regions in man

A. F. Zakharov, A. Z. Davudov, V. A. Benjush, N. A. Egolina

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 543 KB

english, 1982

9

Five new Gc variants detected by isoelectric focusing in agarose gel

Mariann Thymann, Kerstin Hjalmarsson, Margareta Svensson

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 315 KB

english, 1982

10

Genetic control of human apolipoprotein E polymorphism: Comparison of one-and two-dimensional techniques of isoprotein analysis

Gerd Utermann, Armin Steinmetz, Wilfried Weber

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 899 KB

english, 1982

11

Idiopathic hemochromatosis: demonstration of homozygous-heterozygous mating by HLA typing of families

M. L. Bassett, T. J. Doran, J. W. Halliday, H. V. Bashir, L. W. Powell

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 456 KB

english, 1982

12

The effect of aphidicolin on the rate of DNA replication and unscheduled DNA synthesis of Bloom syndrome and normal fibroblasts

Francesco Giannelli, Peter K. Botcherby, Jane A. Avery

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 275 KB

english, 1982

13

Causes of chromosome anomalies suggested by cytogenetic epidemiology of induced abortions

Masaharu Yamamoto, Takashi Ito, Masatomo Watanabe, Gen-ichi Watanabe

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 562 KB

english, 1982

14

Altered frequency of initiation sites of DNA replication in Werner's syndrome cells

Fujio Takeuchi, Fumio Hanaoka, Makoto Goto, Ieo Akaoka, Tada-aki Hori, Masa-atsu Yamada, Terumasa Miyamoto

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 427 KB

english, 1982

15

Transferrin C subtyping in Malaysians and in Indonesians from North Sumatra

S. G. Tan, Y. Y. Gan, K. Asuan

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 158 KB

english, 1982

16

Sexual behaviour is independent of H-Y antigen constitution

Salvatrice Ciccarese, Serafina Massari, Ginevra Guanti

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 188 KB

english, 1982

17

Chromosome abnormalities involving 11p13 and low erythrocyte catalase activity

N. Niikawa, Y. Fukushima, N. Taniguchi, S. Iizuka, T. Kajii

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 279 KB

english, 1982

18

Investigation of genetic markers in a true Hermaphrodite with chi 46,XX/46,XY

Shigeru Minowada, Makoto Hara, Mitsuru Shinohara, Hagime Ishida, Keiko Fukutani, Koichiro Isurugi, Tadao Niijima, Yoshiko Hayashida, Toshiyuki Miki, Kunikazu Kishi

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 244 KB

english, 1982

19

Roberts' — SC phocomelia syndrome with cytogenetic findings

Peter Leonard, John Rendle-Short, Lyn Skardoon

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 233 KB

english, 1982

20

Pyruvate kinase “Göttingen1,2”: Congenital hemolytic anemia, evidence of double heterozygosity, and lack of enzyme cooperativity

W. Schröter, M. Lakomek, M. Scharnetzky, W. Tillmann, H. Winkler

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 585 KB

english, 1982

21

Yqs in an American family of Scottish Descent

Brenda Bordson, Maria Varela

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 167 KB

english, 1982

22

Del(5p) without “cri du chat” phenotype

Carlo Baccichetti

Journal:

Année:

1982

Fichier:

PDF, 27 KB

1982

23

Homocystinuria

Journal:

Année:

1982

Fichier:

PDF, 22 KB

1982

24

Incidence of Hunter's syndrome

I. D. Young, P. S. Harper

Journal:

Année:

1982

Langue:

english

Fichier:

PDF, 104 KB

english, 1982