Jakubiczka, S.: search on Z-Library

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51

The size of the CAG repeat in exon 1 of the androgen receptor gene shows no significant relationship to impaired spermatogenesis in an infertile Caucasoid sample of German origin

Dadze, S., Wieland, C., Jakubiczka, S., Funke, K., Schroder, E., Royer-Pokora, B., Willers, R., Wieacker, P.F.

Journal:

Molecular Human Reproduction

Year:

2000

Language:

english

File:

PDF, 230 KB

english, 2000

52

Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures

Angela M. Kaindl, Sibylle Jakubiczka, Thomas Lücke, Oliver Bartsch, Joachim Weis, Gisela Stoltenburg-Didinger, Fuat Aksu, Konrad Oexle, Katrin Koehler, Angela Huebner

Journal:

Year:

2005

Language:

english

File:

PDF, 237 KB

english, 2005

53

Hypoxia inducible factor stabilization improves defective ischemia-induced angiogenesis in a rodent model of chronic kidney disease

Schellinger, Isabel N., Cordasic, Nada, Panesar, Julian, Buchholz, Björn, Jacobi, Johannes, Hartner, Andrea, Klanke, Bernd, Jakubiczka-Smorag, Joanna, Burzlaff, Nicolai, Heinze, Eva, Warnecke, Christi

Journal:

Kidney International

Year:

2017

Language:

english

File:

PDF, 1.64 MB

english, 2017

54

Atypical Phenotypes in Patients With Facioscapulohumeral Muscular Dystrophy 4q35 Deletion

Krasnianski, Michael, Eger, Katharina, Neudecker, Stephan, Jakubiczka, Sibylle, Zierz, Stephan

Journal:

Archives of Neurology

Year:

2003

Language:

english

File:

PDF, 111 KB

english, 2003

55

Campomelic dysplasia without sex reversal in a Turkish patient is due to mutation Ala119Val within the SOX9 gene

Jakubiczka, Sibylle, Bettecken, Thomas, Koch, Giesela, T??ys??z, Beyhan, Wollnik, Bernd, Wieacker, Peter

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 469 KB

english, 2001

56

Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal

Jakubiczka, S., Schröder, C., Ullmann, R., Volleth, M., Ledig, S., Gilberg, E., Kroisel, P., Wieacker, P.

Journal:

Sexual Development

Year:

2010

Language:

english

File:

PDF, 370 KB

english, 2010

57

A search for restriction fragment length polymorphism on the human Y chromosome

Sibylle Jakubiczka, Joachim Arnemann, Howard J. Cooke, Michael Krawczak, Jörg Schmidtke

Journal:

Year:

1989

Language:

english

File:

PDF, 243 KB

english, 1989

58

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn

Reunert, Janine, Wentzell, Rüdiger, Walter, Michael, Jakubiczka, Sibylle, Zenker, Martin, Brune, Thomas, Rust, Stephan, Marquardt, Thorsten

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 314 KB

english, 2012

59

A(870)E mutation of the androgen receptor gene in a patient with complete androgen insensitivity syndrome and sertoli cell tumor

I Knoke, S Jakubiczka, T Ottersen, A Göppinger, P Wieacker

Journal:

Cancer Genetics and Cytogenetics

Year:

1997

Language:

english

File:

PDF, 919 KB

english, 1997

60

Intrachromosomal triplication 12p11.22–p12.3 and gonadal mosaicism of partial tetrasomy 12p,

Heike Eckel, Rainer Wimmer, Marianne Volleth, Sibylle Jakubiczka, Petra Muschke, Peter Wieacker

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 149 KB

english, 2006

61

Dispermic chimerism identified during blood group determination and HLA typing

Mira Mosebach, Andreas Parkner, Sybille Jakubiczka, Peter Wieacker, Marcell U. Heim

Journal:

Transfusion (Wiley)

Year:

2006

Language:

english

File:

PDF, 98 KB

english, 2006

62

The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy

Petra Muschke, Uwe Kölsch, Sibylle Jakubiczka, Ilse Wieland, Thomas Brune, Peter Wieacker

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 143 KB

english, 2007

63

Analysis of aberrant human Y chromosomes by recombinant DNA probes

J. Arnemann, S. Jakubiczka, C. Fonatsch, M. Schürmann, D. Probeck, J. Schmidtke

Journal:

Analytical and Bioanalytical Chemistry

Year:

1986

Language:

english

File:

PDF, 92 KB

english, 1986

64

Sex reversal in a child with the karyotype 46, XY, dup (1) (p22.3p32.3)

P. Wieacker, D. Missbach, S. Jakubiczka, S. Borgmann, N. Albers

Journal:

Clinical Genetics

Year:

1996

Language:

english

File:

PDF, 403 KB

english, 1996

65

Acute Abdomen in a Patient with Undiagnosed Complete Androgen Insensitivity - Akutes Abdomen bei einem Patienten mit nicht diagnostizierter vollständiger Androgen-Insensibilität -

Möckel, J., Jakubiczka, S., Reuss, C., Keck, C., Breckwoldt, M.

Journal:

Geburtshilfe und Frauenheilkunde

Year:

2000

File:

PDF, 360 KB

2000

66

Improvement of the diagnostic procedure in proximal myotonic myopathy/myotonic dystrophy type 2

Sibylle Jakubiczka, Stefan Vielhaber, Wolfram Kress, Peter Küpferling, Ulrike Reuner, Bernhard Kunath, Peter Wieacker

Journal:

Year:

2004

Language:

english

File:

PDF, 232 KB

english, 2004

67

Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males

Solveig Schulz, Sibylle Jakubiczka, Siegfried Kropf, Ingrid Nickel, Petra Muschke, Jürgen Kleinstein

Journal:

Fertility and Sterility

Year:

2006

Language:

english

File:

PDF, 77 KB

english, 2006

68

Haplotypes in the UGT1A1 gene and their role as genetic determinants of bilirubin concentration in healthy German volunteers

Katrin Borucki, Cornelia Weikert, Eva Fisher, Sibylle Jakubiczka, Claus Luley, Sabine Westphal, Jutta Dierkes

Journal:

Clinical Biochemistry

Year:

2009

Language:

english

File:

PDF, 206 KB

english, 2009

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