Schwarzbraun, T.: search on Z-Library

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

Don't use scam websites

1

Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions

Katharina M. Roetzer, Thomas Schwarzbraun, Anna C. Obenauf, Erwin Hauser, Michael R. Speicher

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 210 KB

english, 2010

2

Molecular and genomic studies ofIMMP2Land mutation screening in autism and Tourette syndrome

Erwin Petek, Thomas Schwarzbraun, Abdul Noor, Megha Patel, Kazuhiko Nakabayashi, Sanaa Choufani, Christian Windpassinger, Mara Stamenkovic, Mary M. Robertson, Harald N. Aschauer, Hugh M. D. Gurling, P

Journal:

Molecular Genetics and Genomics

Year:

2007

Language:

english

File:

PDF, 469 KB

english, 2007

3

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue

Thomas Schwarzbraun, John B. Vincent, Axel Schumacher, Daniel H. Geschwind, Joao Oliveira, Christian Windpassinger, Lisa Ofner, Michael K. Ledinegg, Peter M. Kroisel, Klaus Wagner, Erwin Petek

Journal:

Year:

2004

Language:

english

File:

PDF, 905 KB

english, 2004

4

Fatal EBV Infection and Variable Clinical Manifestations in an XLP-1 Pedigree – Rapid Diagnosis of Primary Immunodeficiencies may Save Lives

Sperl, D., Benesch, M., Urban, C., Lackner, H., Sovinz, P., Speicher, M., Uhrig, S., Schwarzbraun, T., Schwinger, W., zur Stadt, U., Beutel, K., Janka, G., Scarpatetti, M., Seidel, M.

Journal:

Klinische Pädiatrie

Year:

2012

Language:

english

File:

PDF, 211 KB

english, 2012

5

MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome

Amnon Zung, Erwin Petek, Bruria Ben-Zeev, Thomas Schwarzbraun, Sagi Josefsberg Ben-Yehoshua

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 279 KB

english, 2011

6

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

Thomas Schwarzbraun, Lisa Ofner, Gabriele Gillessen-Kaesbach, Barbara Schaperdoth, Karl-Heinz Preisegger, Christian Windpassinger, Klaus Wagner, Erwin Petek, Peter M. Kroisel

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 224 KB

english, 2007

7

Altered bone matrix mineralization in a patient with Rett syndrome

Jochen G. Hofstaetter, Katharina M. Roetzer, Petra Krepler, Kamilla Nawrot-Wawrzyniak, Thomas Schwarzbraun, Klaus Klaushofer, Paul Roschger

Journal:

Year:

2010

Language:

english

File:

PDF, 549 KB

english, 2010

8

Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)

T Kroepfl, E Petek, T Schwarzbraun, PM Kroisel, B Plecko

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 146 KB

english, 2008

9

Combined Molecular Genetic and Cytogenetic Analysis from Single Cells after Isothermal Whole-Genome Amplification

Kroneis, T., Geigl, J. B., El-Heliebi, A., Auer, M., Ulz, P., Schwarzbraun, T., Dohr, G., Sedlmayr, P.

Journal:

Clinical Chemistry

Year:

2011

Language:

english

File:

PDF, 2.89 MB

english, 2011

10

Sporadic gastric Peutz-Jeghers polyp with intraepithelial neoplasia

LARS HARBAUM, JOCHEN B. GEIGL, Hildegard VOLKHOLZ, THOMAS SCHWARZBRAUN, HARALD OSCHMAUTZ, MICHAEL VIETH, CORD LANGNER

Journal:

Year:

2009

Language:

english

File:

PDF, 242 KB

english, 2009

11

Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes

Anna C. Obenauf, Thomas Schwarzbraun, Martina Auer, Eva M. Hoffmann, Julie Waldispuehl-Geigl, Peter Ulz, Barbara Günther, Hans-Christoph Duba, Michael R. Speicher, Jochen B. Geigl

Journal:

Journal of Cellular and Molecular Medicine

Year:

2010

Language:

english

File:

PDF, 845 KB

english, 2010

12

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)

Thomas Schwarzbraun, Christian Windpassinger, Lisa Ofner, John B. Vincent, Joseph Cheung, Stephen W. Scherer, Klaus Wagner, Peter M. Kroisel, Erwin Petek

Journal:

European Journal of Medical Genetics

Year:

2006

Language:

english

File:

PDF, 552 KB

english, 2006

13

Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations

Miltenberger-Miltenyi, Gabriel, Schwarzbraun, Thomas, Löscher, Wolfgang N, Wanschitz, Julia, Windpassinger, Christian, Duba, Hans-Christoph, Seidl, Rainer, Albrecht, Gerhard, Weirich-Schwaiger, Helga,

Journal:

European Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 373 KB

english, 2009

14

An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1

Christian Windpassinger, Benedikt Schoser, Volker Straub, Sonja Hochmeister, Abdul Noor, Birgit Lohberger, Natalie Farra, Erwin Petek, Thomas Schwarzbraun, Lisa Ofner, Wolfgang N. Löscher, Klaus Wagne

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.29 MB

english, 2008

15

Re-alignment-procedures for Skeletal Dysplasia in Three Patients with Genetically Diverse Syndromes

Al Kaissi, Ali, Ganger, Rudolf, Roetzer, Katharina M., Schwarzbraun, Thomas, Klaushofer, Klaus, Grill, Franz

Journal:

Orthopaedic Surgery

Year:

2013

Language:

english

File:

PDF, 1.13 MB

english, 2013

16

Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q

John B. Vincent, Abdul Noor, Christian Windpassinger, Peter J. Gianakopoulos, Thomas Schwarzbraun, Simon E. Alfred, Beata Stachowiak, Stephen W. Scherer, Wendy Roberts, Klaus Wagner, Peter M. Kroisel,

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2009

Language:

english

File:

PDF, 359 KB

english, 2009

17

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

Egger, Gerald, Roetzer, Katharina M., Noor, Abdul, Lionel, Anath C., Mahmood, Huda, Schwarzbraun, Thomas, Boright, Oliver, Mikhailov, Anna, Marshall, Christian R., Windpassinger, Christian, Petek, Erw

Journal:

Year:

2014

Language:

english

File:

PDF, 1.12 MB

english, 2014

18

Defining ‘chromosomal instability’

Jochen B. Geigl, Anna C. Obenauf, Thomas Schwarzbraun, Michael R. Speicher

Journal:

Trends in Genetics

Year:

2008

Language:

english

File:

PDF, 139 KB

english, 2008

19

Androgen receptor expression in breast cancer patients tested for BRCA1 and BRCA2 mutations

Gunda Pristauz, Edgar Petru, Elvira Stacher, Jochen B Geigl, Thomas Schwarzbraun, Oleksiy Tsybrovskyy, Raimund Winter, Farid Moinfar

Journal:

Year:

2010

Language:

english

File:

PDF, 486 KB

english, 2010

20

Persistence of DNA threads in human anaphase cells suggests late completion of sister chromatid decatenation

Lily Hui-Ching Wang, Thomas Schwarzbraun, Michael R. Speicher, Erich A. Nigg

Journal:

Year:

2008

Language:

english

File:

PDF, 623 KB

english, 2008

21

The G-protein Coupled Receptor Associated Sorting Protein GASP-1 Regulates the Signalling and Trafficking of the Viral Chemokine Receptor US28

Pia Tschische, Elisabeth Moser, Dawn Thompson, Henry F. Vischer, Gerald P. Parzmair, Veronika Pommer, Wolfgang Platzer, Thomas Schwarzbraun, Helmut Schaider, Martine J. Smit, Lene Martini, Jennifer L.

Journal:

Year:

2010

Language:

english

File:

PDF, 1.19 MB

english, 2010

22

Phenotypic and molecular characterisation of a de novo 5q deletion that includes theAPCgene

Lisa Ofner, Jochen Raedle, Christian Windpassinger, Thomas Schwarzbraun, Peter M. Kroisel, Klaus Wagner, Erwin Petek

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 306 KB

english, 2006

23

Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation

Choong Yi Fong, Arndt Rolfs, Thomas Schwarzbraun, Christine Klein, Finbar J.K. O’Callaghan

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 670 KB

english, 2011

24

Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development

Schwarzbraun, T., Ullmann, R., Schubert, M., Ledinegg, M., Ofner, L., Windpassinger, C., Wagner, K., Kroisel, P.M., Petek, E.

Journal:

Cytogenetic and Genome Research

Year:

2006

Language:

english

File:

PDF, 320 KB

english, 2006

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