S. Rudnik-Schöneborn: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

1

PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Fabian Küpper, Frank Schneider, Christian Dornia, Ellen Windelen, Thomas Eggermann, Sabine Rudnik-Schöneborn, Jutta Kirfel, Laszlo Furu, Luiz F. Onuchic, Sandro Rossett

Journal:

Year:

2004

Language:

english

File:

PDF, 277 KB

english, 2004

2

Psychopathology and familial stress – comparison of boys with Fragile X syndrome and Spinal Muscular Atrophy

A. Von Gontard, M. Backes, C. Laufersweiler-Plass, C. Wendland, G. Lehmkuhl, K. Zerres, S. Rudnik-Schöneborn

Journal:

Journal of Child Psychology and Psychiatry

Year:

2002

Language:

english

File:

PDF, 110 KB

english, 2002

3

Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC)

Carsten Bergmann, Klaus Zerres, Thomas Peschgens, Jan Senderek, Helmut Hörnchen, Sabine Rudnik-Schöneborn

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 172 KB

english, 2003

4

Zystennieren – eine Übersicht

N. Ortiz Brüchle, A. Venghaus, J. von Bothmer, S. Rudnik-Schöneborn, T. Eggermann, C. Bergmann, K. Zerres

Journal:

medizinische genetik

Year:

2010

Language:

german

File:

PDF, 667 KB

german, 2010

5

Digital necroses and vascular thrombosis in severe spinal muscular atrophy

Sabine Rudnik-Schöneborn, Silke Vogelgesang, Sven Armbrust, Luitgard Graul-Neumann, Christoph Fusch, Klaus Zerres

Journal:

Year:

2010

Language:

english

File:

PDF, 191 KB

english, 2010

6

PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)

Carsten Bergmann, Jan Senderek, Frank Schneider, Christian Dornia, Fabian Küpper, Thomas Eggermann, Sabine Rudnik-Schöneborn, Jutta Kirfel, Markus Moser, Reinhard Büttner, Klaus Zerres

Journal:

Year:

2004

Language:

english

File:

PDF, 163 KB

english, 2004

7

New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene

K Zerres, J Senderek, S Rudnik-Schöneborn, T Eggermann, J Kunze, T Mononen, H Kääriäinen, J Kirfel, M Moser, R Buettner, C Bergmann

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 703 KB

english, 2004

8

Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

Bergmann, Carsten, Senderek, Jan, Windelen, Ellen, Kupper, Fabian, Middeldorf, Iris, Schneider, Frank, Dornia, Christian, Rudnik-Schoneborn, Sabine, Konrad, Martin, Schmitt, Claus P., Seeman, Tomas, N

Journal:

Kidney International

Year:

2005

Language:

english

File:

PDF, 497 KB

english, 2005

9

Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy

Peter Reilich, Nicolai Schramm, Benedikt Schoser, Peter Schneiderat, Nicola Strigl-Pill, Josef Müller-Höcker, Wolfram Kress, Andreas Ferbert, Sabine Rudnik-Schöneborn, Johannes Noth, Hanns Lochmüller,

Journal:

Journal of Neurology

Year:

2010

Language:

english

File:

PDF, 578 KB

english, 2010

10

Spinale Muskelatrophien

S. Rudnik-Schöneborn, K. Zerres

Journal:

medizinische genetik

Year:

2009

Language:

german

File:

PDF, 552 KB

german, 2009

11

Extensor-tendon hypoplasia and multiple pterygia: Escobar syndrome in a 7-year-old boy

A. Aslani, U. Kleiner, E.M. Noah, N. Pallua, S. Rudnik-Schöneborn

Journal:

British Journal of Plastic Surgery

Year:

2002

Language:

english

File:

PDF, 7.38 MB

english, 2002

12

Cost a barrier for self-paid vaccination in Poland

Rudnik-Schöneborn, S., Lorson, C.L., Shababi, M.

Journal:

PharmacoEconomics & Outcomes News

Year:

2013

Language:

english

File:

PDF, 111 KB

english, 2013

13

Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum

Rudnik-Schöneborn, S., Zerres, K., Graul-Neumann, L., Wiegand, S., Mellerowicz, H., Hehr, U.

Journal:

Molecular Syndromology

Year:

2010

Language:

english

File:

PDF, 489 KB

english, 2010

14

Hereditary Neuropathies: Update 2017

Rudnik-Schöneborn, Sabine, Auer-Grumbach, Michaela, Senderek, Jan

Journal:

Neuropediatrics

Year:

2017

Language:

english

File:

PDF, 481 KB

english, 2017

15

Autosomal recessive polycystic kidney disease

K. Zerres, Sabine Rudnik-Schöneborn, Carsten Steinkamm, Jutta Becker, Gabi Mücher

Journal:

Journal of Molecular Medicine

Year:

1998

Language:

english

File:

PDF, 1.11 MB

english, 1998

16

Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients

Carina Awater, Klaus Zerres, Sabine Rudnik-Schöneborn

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

2012

Language:

english

File:

PDF, 630 KB

english, 2012

17

A new splice site mutation in the SMN1 gene causes discrepant results in SMN1 deletion screening approaches

Thomas Eggermann, Katja Eggermann, Miriam Elbracht, Klaus Zerres, Sabine Rudnik-Schöneborn

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 238 KB

english, 2008

18

Clinical variability of autosomal dominant spinal muscular atrophy

M. Rietschel, S. Rudnik-Schöneborn, K. Zerres

Journal:

Journal of the Neurological Sciences

Year:

1992

Language:

english

File:

PDF, 595 KB

english, 1992

19

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations

Rudnik-Schöneborn, Sabine, Deden, Florian, Eggermann, Katja, Eggermann, Thomas, Wieczorek, Dagmar, Sellhaus, Bernd, Yamoah, Alfred, Goswami, Anand, Claeys, Kristl G., Weis, Joachim, Zerres, Klaus

Journal:

Year:

2016

Language:

english

File:

PDF, 2.51 MB

english, 2016

20

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

Wan, Jijun, Steffen, Janos, Yourshaw, Michael, Mamsa, Hafsa, Andersen, Erik, Rudnik-Schöneborn, Sabine, Pope, Kate, Howell, Katherine B., McLean, Catriona A., Kornberg, Andrew J., Joseph, Jörg, Lockha

Journal:

Year:

2016

Language:

english

File:

PDF, 1.41 MB

english, 2016

21

Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria

Schatz, Ulrich A., Weiss, Simone, Wenninger, Stephan, Schoser, Benedikt, Muss, Wolfgang H., Bittner, Reginald E., Schmidt, Wolfgang M., Schossig, Anna S., Rudnik-Schöneborn, Sabine, Baumann, Matthias

Journal:

Year:

2018

Language:

english

File:

PDF, 587 KB

english, 2018

22

Prenatal prediction in families with autosomal recessive proximal spinal muscular atrophy (5q11.2–q13.3): Molecular genetics and clinical experience in 109 cases

Dr. B. Wirth, S. Rudnik-Schöneborn, E. Hahnen, D. Röhrig, K. Zerres

Journal:

Prenatal Diagnosis

Year:

1995

Language:

english

File:

PDF, 894 KB

english, 1995

23

Pregnancy and spinal muscular atrophy

Sabine Rudnik-Schöneborn, Klaus Zerres, Jaakko Ignatius, Marcella Rietschel

Journal:

Journal of Neurology

Year:

1992

Language:

english

File:

PDF, 471 KB

english, 1992

24

Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

Shababi, Monir, Lorson, Christian L., Rudnik-Schöneborn, Sabine S.

Journal:

Journal of Anatomy

Year:

2014

Language:

english

File:

PDF, 170 KB

english, 2014

25

A new case of proximal monosomy 1p36, extending the phenotype

Sabine Rudnik-Schöneborn, Klaus Zerres, Martin Häusler, Alexandra Lott, Timo Krings, Herdit M. Schüler

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 183 KB

english, 2008

26

A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)

Markus Moser, Sonja Matthiesen, Jutta Kirfel, Hubert Schorle, Carsten Bergmann, Jan Senderek, Sabine Rudnik-Schöneborn, Klaus Zerres, Reinhard Buettner

Journal:

Year:

2005

Language:

english

File:

PDF, 1.98 MB

english, 2005

27

Neuromuskuläre Krankheiten

T. Grimm, W. Kress, S. Rudnik-Schöneborn, K. Zerres

Journal:

medizinische genetik

Year:

2009

Language:

german

File:

PDF, 128 KB

german, 2009

28

C.P.1.08 A homozygous deletion of TPM3 causing severe nemaline myopathy in two Turkish sib pairs from separate families

V. Lehtokari, K. Pelin, K. Donner, T. Voit, S. Rudnik-Schöneborn, C. Wallgren-Pettersson

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 48 KB

english, 2007

29

Prinzipien der humangenetischen Beratung und genetischen Diagnostik in der Gastroenterologie

Prof. Dr. K. Zerres, J. Glas, T. Eggermann, S. Rudnik-Schöneborn

Journal:

Der Gastroenterologe

Year:

2013

Language:

german

File:

PDF, 559 KB

german, 2013

30

Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

Kaindl, A. M., Guenther, U.-P., Rudnik-Schoneborn, S., Varon, R., Zerres, K., Schuelke, M., Hubner, C., von Au, K.

Journal:

Journal of Child Neurology

Year:

2007

Language:

english

File:

PDF, 2.78 MB

english, 2007

31

Stress and Coping in Parents of Children and Adolescents with Spinal Muscular Atrophy

von Gontard, A., Rudnik-Schöneborn, S., Zerres, K.

Journal:

Klinische Pädiatrie

Year:

2012

Language:

english

File:

PDF, 183 KB

english, 2012

32

Different entities of proximal spinal muscular atrophy within one family

B. Wirth, D. Tessarolo, E. Hahnen, S. Rudnik-Schöneborn, H. Raschke, M. Liguori, M. Giacanelli, K. Zerres

Journal:

Year:

1997

Language:

english

File:

PDF, 206 KB

english, 1997

33

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Senderek, Jan, Krieger, Michael, Stendel, Claudia, Bergmann, Carsten, Moser, Markus, Breitbach-Faller, Nico, Rudnik-Schöneborn, Sabine, Blaschek, Astrid, Wolf, Nicole I, Harting, Inga

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 240 KB

english, 2005

34

A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany

Carsten Bergmann, J.Michael Schröder, Sabine Rudnik-Schöneborn, Klaus Zerres, Jan Senderek

Journal:

Molecular Brain Research

Year:

2001

Language:

english

File:

PDF, 41 KB

english, 2001

35

Proximal and distal spinal muscular atrophy in one family: molecular genetic studies provide further evidence for the non-allelic origin of both diseases.

Spranger, S, Rudnik-Schoneborn, S, Spranger, M, Schachtele, M, Zerres, K, Wirth, B

Journal:

Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 525 KB

english, 1997

36

Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region

R. Korinthenberg, M. Sauer, U.-P. Ketelsen, C. O. Hanemann, G. Stoll, M. Graf, A. Baborie, B. Volk, B. Wirth, S. Rudnik-Schöneborn, K. Zerres

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 610 KB

english, 1997

37

Kidney growth and renal function in unilateral multicystic dysplastic kidney disease

Ulrike John, Sabine Rudnik-Schöneborn, Klaus Zerres, Joachim Misselwitz

Journal:

Pediatric Nephrology

Year:

1998

Language:

english

File:

PDF, 57 KB

english, 1998

38

Fine Mapping and Narrowing of the Genetic Interval of the Spinal Muscular Atrophy Region by Linkage Studies

B. Wirth, B. Voosen, D. Röhrig, M. Knappt, B. Piechaczek, S. Rudnik-Schöneborn, K. Zerres

Journal:

Year:

1993

File:

PDF, 315 KB

1993

39

Early morphological evidence of autosomal recessive polycystic kidney disease

Klaus Zerres, Gabi Mucher, Sabine Rudnik-Schöneborn, Philip Smith, Peter Lunt, Adrian Charles, Helen Porter

Journal:

Year:

1995

Language:

english

File:

PDF, 382 KB

english, 1995

40

Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals

Hahnen, Eric, Forkert, Randolf, Marke, Christine, Rudnik-Schöneborn, Sabine, Schönling, Jutta, Zerres, Klaus, Creavin, T., Wirth, Brunhilde

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.44 MB

english, 1995

41

Pontocerebellar hypoplasia type 1: Clinical spectrum and relevance of EXOSC3 mutations

Rudnik-Schoneborn, S., Senderek, J., Jen, J. C., Houge, G., Seeman, P., Puchmajerova, A., Graul-Neumann, L., Seidel, U., Korinthenberg, R., Kirschner, J., Seeger, J., Ryan, M. M., Muntoni, F., Steinli

Journal:

Year:

2013

Language:

english

File:

PDF, 632 KB

english, 2013

42

Concurrence of dystonia 1 and Charcot-Marie-Tooth Neuropathy, type 1 A, in a large family

Birgit Zirn, Christoph Korenke, Michael Wagner, Sabine Rudnik-Schöneborn, Ulrich Müller

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 511 KB

english, 2011

43

Enuresis and urinary incontinence in children and adolescents with spinal muscular atrophy

A. Von Gontard, C. Laufersweiler-Plass, M. Backes, K. Zerres, S. Rudnik-Schöneborn

Journal:

BJU International

Year:

2001

Language:

english

File:

PDF, 60 KB

english, 2001

44

No evidence for linkage of autosomal dominant proximal spinal muscular atrophies to chromosome 5q markers

Katrin Kausch, Clemens R. Müller, Tiemo Grimm, Kenneth Ricker, Marcella Rietschel, Sabine Rudnik-Schöneborn, Klaus Zerres

Journal:

Year:

1991

Language:

english

File:

PDF, 127 KB

english, 1991

45

Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin

Lehtokari, Vilma-Lotta, Pelin, Katarina, Donner, Kati, Voit, Thomas, Rudnik-Schöneborn, Sabine, Stoetter, Mechthild, Talim, Beril, Topaloglu, Haluk, Laing, Nigel G, Wallgren-Pettersson, Carina

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 268 KB

english, 2008

46

Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships

F. Deget, S. Rudnik-Schöneborn, K. Zerres

Journal:

Clinical Genetics

Year:

1995

Language:

english

File:

PDF, 493 KB

english, 1995

47

Outcome in pregnancies complicated by myotonic dystrophy: a study of 31 patients and review of the literature

Sabine Rudnik-Schöneborn, Klaus Zerres

Journal:

European Journal of Obstetrics & Gynecology and Reproductive Biology

Year:

2004

Language:

english

File:

PDF, 379 KB

english, 2004

48

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P, Hong, Ji Eun, Leong, Derek W, Senderek, Jan, Salman, Michael S, Chitayat, David, Seeman, Pavel, von Moers, Arp

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 1.45 MB

english, 2012

49

Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050)

Toth, Bettina, Würfel, Wolfgang, Bohlmann, Michael, Zschocke, Johannes, Rudnik-Schöneborn, Sabine, Nawroth, Frank, Schleußner, Ekkehard, Rogenhofer, Nina, Wischmann, Tewes, von Wolff, Michael, Hancke,

Journal:

Geburtshilfe und Frauenheilkunde

Year:

2018

File:

PDF, 290 KB

2018

50

Mild Pelizaeus-Merzbacher disease caused by a point mutation affecting correct splicing of PLP1 mRNA

C.A. Hübner, A. Senning, U. Orth, K. Zerres, H. Urbach, A. Gal, S. Rudnik-Schöneborn

Journal:

Year:

2005

Language:

english

File:

PDF, 171 KB

english, 2005

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@1delivery.pm

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски