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1

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

T. Dörk, Bernd Dworniczak, Christa Aulehla-Scholz, Dagmar Wieczorek, Ingolf Böhm, Antonia Mayerova, Hans H. Seydewitz, Eberhard Nieschlag, Dieter Meschede, Jürgen Horst, Hans-Jürgen Pander, Herbert Sp

Journal:

Year:

1997

Language:

english

File:

PDF, 166 KB

english, 1997

2

Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?

Bernd Dworniczak, Luba Kalaydjieva, Sabine Pankoke, Christa Aulehla-Scholz, Gregory Allen, Jürgen Horst

Journal:

Year:

1992

Language:

english

File:

PDF, 839 KB

english, 1992

3

Identification of a novel missense mutation (G314E) in exon 7 of the cystic fibrosis transmembrane conductance regulator gene identified in a CF patient with pancreatic sufficiency

Astrid Golla, Annette Deufel, Christa Aulehla-Scholz, Ingolf Böhm, Bruno Hilz, Thomas Meitinger, Thomas Deufel

Journal:

Year:

1994

Language:

english

File:

PDF, 226 KB

english, 1994

4

Mutational spectrum in German patients with phenylalanine hydroxylase deficiency

Christa Aulehla-Scholz, Helmut Heilbronner

Journal:

Year:

2003

Language:

english

File:

PDF, 32 KB

english, 2003

5

A pitfall in the prenatal diagnosis of β-thalassaemia by RFLP

C. Aulehla-Scholz, P. Miny, W. Holzgreve, J. T. Epplen, J. Horst

Journal:

Prenatal Diagnosis

Year:

1989

Language:

english

File:

PDF, 162 KB

english, 1989

6

Hb D Los Angeles (D-Punjab) and Hb Presbyterian: analysis of the defect at the DNA level

J. Schnee, C. Aulehla-Scholz, A. Eigel, J. Horst

Journal:

Year:

1990

Language:

english

File:

PDF, 366 KB

english, 1990

7

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene

B. Dworniczak, L. Kalaydjieva, C. Aulehla-Scholz, K. Ullrich, I. Kremensky, B. Radeva, J. Horst

Journal:

Year:

1991

Language:

english

File:

PDF, 379 KB

english, 1991

8

Molecular analysis of PKU haplotypes in the population of southern Poland

Marta Zygulska, Antonin Eigel, Christa Aulehla-Scholz, Jacek J. Pietrzyk, Jürgen Horst

Journal:

Year:

1991

Language:

english

File:

PDF, 300 KB

english, 1991

9

Molecular basis of β-thalassemia in Turkey: detection of rare mutations by direct sequencing

C. Aulehla-Scholz, S. Basaran, L. Agaoglu, A. Arcasoy, W. Holzgreve, P. Miny, F. Ridolfi, J. Horst

Journal:

Year:

1990

Language:

english

File:

PDF, 305 KB

english, 1990

10

Phenylketonuria: detection of a frequent haplotype 4 allele mutation

Bernd Dworniczak, Christa Aulehla-Scholz, Jürgen Horst

Journal:

Year:

1989

Language:

english

File:

PDF, 271 KB

english, 1989

11

Cystic fibrosis: typing 89 German families with linked DNA probes

J. Weber, C. Aulehla-Scholz, R. Kaiser, A. Eigel, M. Neugebauer, J. Horst, K. Olek

Journal:

Year:

1988

Language:

english

File:

PDF, 216 KB

english, 1988

12

Phenylketonuria: distribution of DNA diagnostic patterns in German families

C. Aulehla-Scholz, M. Vorgerd, E. Sautter, D. Leupold, R. Mahlmann, K. Ullrich, K. Olek, J. Horst

Journal:

Year:

1988

Language:

english

File:

PDF, 375 KB

english, 1988

13

The frequency of the CF ΔF508 deletion in CF chromosomes of different ethnic origin

C. Aulehla-Scholz, R. Kaiser, J. Weber, O. Pivetta, A. Eigel, B. Dworniczak, K. Olek, J. Horst

Journal:

Year:

1990

Language:

english

File:

PDF, 213 KB

english, 1990

14

Quality of diagnostic mutation analyses for phenylketonuria

J. Zschocke, C. Aulehla-Scholz, S. Patton

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 228 KB

english, 2008

15

Leitlinie zur Molekulargenetischen Diagnostik der Cystischen Fibrose

M. Stuhrmann-Spangenberg, C. Aulehla-Scholz, B. Dworniczak, J. Reiss

Journal:

medizinische genetik

Year:

2009

Language:

german

File:

PDF, 404 KB

german, 2009

16

Problems in detecting mosaic DNA methylation in Angelman syndrome

Horsthemke, Bernhard, Lich, Christina, Buiting, Karin, Achmann, Roland, Aulehla-Scholz, Christa, Baumer, Alessandra, Bürger, Joachim, Dworniczak, Bernd, Gläser, Dieter, Holinski-Feder, Elke

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 77 KB

english, 2003

17

Phenylalanine hydroxylase gene: silent mutation uncovers evolutionary origin of different alleles

Bernd Dworniczak, Christa Aulehla-Scholz, Jürgen Horst

Journal:

Clinical Genetics

Year:

1990

Language:

english

File:

PDF, 269 KB

english, 1990

18

Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles

L. Kalaydjieva, B. Dworniczak, I. Kromensky, K. Koprivarova, B. Radeva, R. Milusheva, C. Aulehla-Scholz, J. Horst

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 612 KB

english, 1992

19

Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

S. Bunge, H. Wedemann, D. David, D.J. Terwilliger, L.I. van den Born, C. Aulehla-Scholz, C. Samanns, M. Horn, J. Ott, E. Schwinger, A. Schinzel, M.J. Denton, A. Gal

Journal:

Year:

1993

File:

PDF, 218 KB

1993

20

BH4-sensitive hyperphenylalaninemia: new case and review of literature

Thomas Lücke, Sabine Illsinger, Christa Aulehla-Scholz, Johannes Sander, Anibh M. Das

Journal:

Pediatric Neurology

Year:

2003

Language:

english

File:

PDF, 42 KB

english, 2003

21

Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern Europe

Dworniczak, B., Aulehla-Scholz, C., Kalaydjieva, L., BartholomÃ©, K., Grudda, K., Horst, J.

Journal:

Year:

1991

Language:

english

File:

PDF, 940 KB

english, 1991

22

Phenylalanine hydroxylase gene: Novel missense mutation in exon 7 causing severe phenylketonuria

Dworniczak, Bernd, Grudda, Klaus, Stümper, Judith, Bartholomé, Klaus, Aulehla-Scholz, Christa, Horst, Jürgen

Journal:

Year:

1991

Language:

english

File:

PDF, 1.69 MB

english, 1991

23

DIRECT SEQUENCING OF AMPLIFIED DNA IN PRENATAL DIAGNOSIS OF β-THALASSAEMIA

Aulehla-Scholz, C., Spiegelberg, R., Miny, P., Holzgreve, W., Eigel, A., Dworniczak, B., Horst, J.

Journal:

Year:

1989

Language:

english

File:

PDF, 283 KB

english, 1989

24

[Part 1: Biological Sciences] || Integration and Expression of a Truncated Simian Virus 40 early Gene Fragment in Mammalian Cells

Jurgen Horst, Christine Weckler, Elard Jacob, Christa Aulehla-Scholz and Wolfgang Deppert

Journal:

Proceedings of the National Academy of Sciences

Year:

1982

Language:

english

File:

PDF, 1.77 MB

english, 1982

25

Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.

Kalaydjieva, L, Dworniczak, B, Aulehla-Scholz, C, Devoto, M, Romeo, G, Sturhmann, M, Kucinskas, V, Yurgelyavicius, V, Horst, J

Journal:

Journal of Medical Genetics

Year:

1991

Language:

english

File:

PDF, 787 KB

english, 1991

26

Classical phenylketonuria in Bulgaria: RFLP haplotypes and frequency of the major mutations.

Kalaydjieva, L, Dworniczak, B, Aulehla-Scholz, C, Kremensky, I, Bronzova, J, Eigel, A, Horst, J

Journal:

Journal of Medical Genetics

Year:

1990

Language:

english

File:

PDF, 545 KB

english, 1990

27

In frame deletion (ΔF311) within a short trinucleotide repeat of the first transmembrane region of the cystic fibrosis gene

Meitinger, Thomas, Golla, Astrid, Dörner, Christa, Deufel, Annette, Aulehla-Scholz, Christa, Böhm, Ingolf, Reinhardt, Dietrich, Deufel, Thomas

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 1.20 MB

english, 1993

28

Erfahrungen mit der pränatalen Diagnostik von Sichelzellenanämie und Thalassämien im ersten Schwangerschaftstrimenon: Aspekte für den Frauenarzt

Holzgreve, W., Aulehla-Scholz, C., Griese, E., Oehme, R., Miny, P., Horst, J.

Journal:

Geburtshilfe und Frauenheilkunde

Year:

1987

File:

PDF, 1.24 MB

1987

29

Integration and expression of a truncated simian virus 40 early gene fragment in mammalian cells.

Horst, J., Weckler, C., Jacob, E., Aulehla-Scholz, C., Deppert, W.

Journal:

Proceedings of the National Academy of Sciences

Year:

1982

Language:

english

File:

PDF, 1.43 MB

english, 1982

30

Subcloning of the Histone DNA Sequences of Phage Lambda Sam 7 h 22 in Plasmid pBR 322

Aulehla-Scholz, Ch., Jacob, E.

Journal:

Zeitschrift für Naturforschung C

Year:

1980

Language:

english

File:

PDF, 6.58 MB

english, 1980

31

A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA

Spiegelberg, R, Aulehla-Scholz, C, Erlich, H, Horst, J

Journal:

Year:

1989

File:

PDF, 667 KB

1989