Volume 92; Issue 3

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Human Genetics
Volume 92; Issue 3

Human Genetics

Volume 92; Issue 3

1

Diagnosis of human genetic disease using recombinant DNA

D. N. Cooper, J. Schmidtke

Journal:

Year:

1993

Language:

english

File:

PDF, 2.01 MB

english, 1993

2

Duplication detection in Japanese Duchenne muscular dystrophy patients and identification of carriers with partial gene deletions using pulsed-field gel electrophoresis

Mieko Kodaira, Keiko Hiyama, Takenori Karakawa, Hitoshi Kameo, Chiyoko Satoh

Journal:

Year:

1993

Language:

english

File:

PDF, 1.29 MB

english, 1993

3

Loss of heterozygosity and K-rasgene mutations in gastric cancer

G. N. Ranzani, B. Renault, N. S. Pellegata, P. Fattorini, E. Magni, F. Bacci, D. Amadori

Journal:

Year:

1993

Language:

english

File:

PDF, 744 KB

english, 1993

4

Linkage of Wiskott-Aldrich syndrome with three marker loci, DXS426, SYP and TFE3, which map to the Xp11.3–p11.22 region

Suzanne M. Cremin, Wenda L. Greer, Rebecca Bodok-Nutzati, Marianne Schwartz, Monica Peacocke, Katherine A. Siminovitch

Journal:

Year:

1993

Language:

english

File:

PDF, 453 KB

english, 1993

5

Phenylketonuria in Spain: RFLP haplotypes and linked mutations

Lourdes R. Desviat, Belén Pérez, Magdalena Ugarte

Journal:

Year:

1993

Language:

english

File:

PDF, 443 KB

english, 1993

6

Human chromosome 11 complements ataxia-telangiectasia cells but does not complement the defect in AT-like Chinese hamster cell mutants

W. Jongmans, J. Wiegant, M. Oshimura, M. R. James, P. H. M. Lohman, M. Z. Zdzienicka

Journal:

Year:

1993

Language:

english

File:

PDF, 778 KB

english, 1993

7

Retrospective molecular detection of transhyretin Met 111 mutation in a Danish kindred with familial amyloid cardiomyopathy, using DNA from formalin-fixed and paraffin-embedded tissues

Bjørn-Yngvar Nordvåg, Ida Ranløv, Hilde Monica Frostad Riise, Gunnar Husby, M. Raafat El-Gewely

Journal:

Year:

1993

Language:

english

File:

PDF, 497 KB

english, 1993

8

Founder effect in a Belgian-Dutch fragile X population

Sonja Buyle, Edwin Reyniers, Lieve Vits, Kristel Boulle, Ingrid Handig, Floris L. E. Wuyts, Wout Deelen, Dicky J. J. Halley, Ben A. Oostra, Patrick J. Willems

Journal:

Year:

1993

Language:

english

File:

PDF, 381 KB

english, 1993

9

Genetic and molecular analysis of familial isolated growth hormone deficiency

Rosalía Ruiz-Pacheco, Pierre Chatelain, Pierre C. Sizonenko, Michel Bost, Patrick Garandau, Charles Sultan

Journal:

Year:

1993

Language:

english

File:

PDF, 1.08 MB

english, 1993

10

Long range restriction map of the von Hippel-Lindau gene region on human chromosome 3p

Susanne C. Szymanski, Holger Hummerich, Farida Latif, Michael I. Lerman, Gunter Röhrborn, Elisabeth Schröder

Journal:

Year:

1993

Language:

english

File:

PDF, 988 KB

english, 1993

11

Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis

Hagit Sereth, Tzipora Shoshani, Nurit Bashan, Bat-sheva Kerem

Journal:

Year:

1993

Language:

english

File:

PDF, 678 KB

english, 1993

12

Tight linkage between the Beckwith-Wiedemann syndrome and a microsatellite marker for the TH locus

Agneta Nordenskjöld, Fredrik Hedborg, Holger Luthman, Magnus Nordenskjöld

Journal:

Year:

1993

Language:

english

File:

PDF, 331 KB

english, 1993

13

Genetic mapping of the erythropoietin receptor gene

Pertti Sistonen, Ann-Liz Träskelin, Heikki Lehväslaiho, Albert Chapelle

Journal:

Year:

1993

Language:

english

File:

PDF, 408 KB

english, 1993

14

Detection of an exon 53 polymorphism in the dystrophin gene

Thomas W. Prior, Audrey C. Papp, Pamela J. Snyder, Mary S. Sedra

Journal:

Year:

1993

Language:

english

File:

PDF, 428 KB

english, 1993

15

Localization of X chromosome short arm markers relative to synovial sarcoma- and renal adenocarcinoma-associated translocation breakpoints

R. J. Sinke, B. Leeuw, H. A. P. Janssen, D. Olde Weghuis, R. F. Suijkerbuijk, A. M. Meloni, S. Gilgenkrantz, W. Berger, H. H. Ropers, A. A. Sandberg, A. Geurts Kessel

Journal:

Year:

1993

Language:

english

File:

PDF, 553 KB

english, 1993

16

Fetal cells in the maternal circulation during first trimester in pregnancies

Jui-Der Liou, Chia C. Pao, Jyu Jen Hor, Shu-Min Kao

Journal:

Year:

1993

Language:

english

File:

PDF, 358 KB

english, 1993

17

Dinucleotide repeat polymorphisms at the lipoprotein lipase (LPL) locus

T. M. Narcisi, M. C. Schotz, J. Scott, C. C. Shoulders

Journal:

Year:

1993

Language:

english

File:

PDF, 279 KB

english, 1993

18

Announcements

Journal:

Year:

1993

Language:

english

File:

PDF, 103 KB

english, 1993

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