Baumgärtner, Martina: search on Z-Library

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1

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Baumgartner, Matthias R, Hörster, Friederike, Dionisi-Vici, Carlo, Haliloglu, Goknur, Karall, Daniela, Chapman, Kimberly A, Huemer, Martina, Hochuli, Michel, Assoun, Murielle, Ballhausen, Diana, Burli

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 2.62 MB

english, 2014

2

Mutations in the human DHCR7 gene

Martina Witsch-Baumgartner, Judith Löffler, Gerd Utermann

Journal:

Year:

2001

Language:

english

File:

PDF, 356 KB

english, 2001

3

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

Huemer, Martina, Scholl-Bürgi, Sabine, Hadaya, Karine, Kern, Ilse, Beer, Ronny, Seppi, Klaus, Fowler, Brian, Baumgartner, Matthias R, Karall, Daniela

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 431 KB

english, 2014

4

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review

Zeltner, Nina A, Huemer, Martina, Baumgartner, Matthias R, Landolt, Markus A

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 368 KB

english, 2014

5

Ultrasonographic measurement of the bovine teat: breed differences, and the significance of the measurements for udder health

Klein, Daniela, Flöck, Martina, Lorenz Khol, Johannes, Franz, Sonja, Peter Stüger, Hans, Baumgartner, Walter

Journal:

Journal Dairy Research

Year:

2005

Language:

english

File:

PDF, 82 KB

english, 2005

6

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]

Witsch-Baumgartner, Martina, Sawyer, Hilary, Haas, Dorothea

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 193 KB

english, 2013

7

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency

Froese, D. Sean, Huemer, Martina, Suormala, Terttu, Burda, Patricie, Coelho, David, Guéant, Jean-Louis, Landolt, Markus A., Kožich, Viktor, Fowler, Brian, Baumgartner, Matthias R.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.08 MB

english, 2016

8

The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways

Huemer, Martina, Baumgartner, Matthias R.

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

File:

PDF, 2.69 MB

2019

9

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, Viktor, Morris, Andrew A., Seifert, Burkhardt, Froese, D. Sean, Baumgartner,

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

File:

PDF, 2.56 MB

2019

10

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

Baumgartner-Parzer, Sabina, Witsch-Baumgartner, Martina, Hoeppner, Wolfgang

Journal:

European Journal of Human Genetics

Year:

2020

File:

PDF, 1.12 MB

2020

11

Prospective sustainability assessment: the case of wood in automotive applications

Mair-Bauernfeind, Claudia, Zimek, Martina, Asada, Raphael, Bauernfeind, Daniel, Baumgartner, Rupert J., Stern, Tobias

Journal:

The International Journal of Life Cycle Assessment

Year:

2020

File:

PDF, 5.37 MB

2020

12

Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder

Martina Witsch-Baumgartner, Judith Loeffler, Hans-Jürgen Menzel, Gerd Utermann, Cordula Neuhaus

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 42 KB

english, 2001

13

Oxidorhenium(V) Complexes with Tridentate and Tetradentate Phenol-Based Ligands

Pedro Traar, Albert Schröckeneder, Martina E. Judmaier, Ferdinand Belaj, Judith Baumgartner, Anna Sachse, Nadia C. Mösch-Zanetti

Journal:

European Journal of Inorganic Chemistry

Year:

2010

Language:

english

File:

PDF, 466 KB

english, 2010

14

Identification of the rare EGFR mutation p.G796S as somatic and germline mutation in white patients with squamous cell carcinoma of the head and neck

Ilona Schwentner, Martina Witsch-Baumgartner, Georg M. Sprinzl, Jens Krugmann, Alexandar Tzankov, Siegfried Jank, Heinz Zwierzina, Judith Loeffler-Ragg

Journal:

Year:

2008

Language:

english

File:

PDF, 353 KB

english, 2008

15

A Novel Synthesis of Highly Substituted Perhydropyrrolizines, Perhydroindolizines, and Pyrrolidines: Inhibition of the Peptidyl-Prolyl cis/trans Isomerase (PPIase) Pin1

Romain Siegrist, Martina Zürcher, Corinne Baumgartner, Paul Seiler, François Diederich, Sebastian Daum, Gunter Fischer, Christian Klein, Markus Dangl, Manfred Schwaiger

Journal:

Helvetica Chimica Acta

Year:

2007

Language:

english

File:

PDF, 1.76 MB

english, 2007

16

Perlecan domain V of Drosophila melanogaster : Sequence, recombinant analysis and tissue expression

Martin V. K. Friedrich, Martina Schneider, Rupert Timpl, Stefan Baumgartner

Journal:

Year:

2000

Language:

english

File:

PDF, 1.53 MB

english, 2000

17

Identification of the β-dystroglycan binding epitope within the C-terminal region of α-dystroglycan

Francesca Sciandra, Martina Schneider, Bruno Giardina, Stefan Baumgartner, Tamara C. Petrucci, Andrea Brancaccio

Journal:

Year:

2001

Language:

english

File:

PDF, 619 KB

english, 2001

18

Molecular prenatal diagnosis of Smith–Lemli–Opitz syndrome is reliable and efficient

Judith Loeffler, Gerd Utermann, Martina Witsch-Baumgartner

Journal:

Prenatal Diagnosis

Year:

2002

Language:

english

File:

PDF, 64 KB

english, 2002

19

Studies on a Microwave-Heated Atmospheric Plasma Torch

Martina Leins, Klaus-Martin Baumgärtner, Matthias Walker, Andreas Schulz, Uwe Schumacher, Ulrich Stroth

Journal:

Plasma Processes and Polymers

Year:

2007

Language:

english

File:

PDF, 205 KB

english, 2007

20

Different protective effects of tauroursodeoxycholate, ursodeoxycholate, and 23-methyl-ursodeoxycholate against taurolithocholate-induced cholestasis

Ulrich Baumgartner, Jurgen Schölmerich, Markus Sellinger, Martina Reinhardt, Günter Ruf, Eduard-Heinrich Farthmann

Journal:

Digestive Diseases and Sciences

Year:

1996

Language:

english

File:

PDF, 835 KB

english, 1996

21

Endoscopic examination of the upper respiratory tract and oesophagus in small ruminants: Technique and normal appearance

Martina Stierschneider, Sonja Franz, Walter Baumgartner

Journal:

The Veterinary Journal

Year:

2007

Language:

english

File:

PDF, 887 KB

english, 2007

22

TAMEE: data management and analysis for tissue microarrays

Gerhard G Thallinger, Kerstin Baumgartner, Martin Pirklbauer, Martina Uray, Elke Pauritsch, Gabor Mehes, Charles R Buck, Kurt Zatloukal, Zlatko Trajanoski

Journal:

BMC Bioinformatics

Year:

2007

Language:

english

File:

PDF, 1.53 MB

english, 2007

23

The domains of protein S from Myxococcus xanthus: structure, stability and interactions

Martina Wenk, Roland Baumgartner, Tad A Holak, Robert Huber, Rainer Jaenicke, Eva-Maria Mayr

Journal:

Journal of Molecular Biology

Year:

1999

Language:

english

File:

PDF, 863 KB

english, 1999

24

Gefitinib-responsive EGFR-positive colorectal cancers have different proteome profiles from non-responsive cell lines

Judith Loeffler-Ragg, Sergej Skvortsov, Bettina Sarg, Ira Skvortsova, Martina Witsch-Baumgartner, Doris Mueller, Herbert Lindner, Heinz Zwierzina

Journal:

European Journal of Cancer

Year:

2005

Language:

english

File:

PDF, 270 KB

english, 2005

25

Low incidence of mutations in EGFR kinase domain in Caucasian patients with head and neck squamous cell carcinoma

Judith Loeffler-Ragg, Martina Witsch-Baumgartner, Alexandar Tzankov, Wolgang Hilbe, Ilona Schwentner, Georg M. Sprinzl, Gerd Utermann, Heinz Zwierzina

Journal:

European Journal of Cancer

Year:

2006

Language:

english

File:

PDF, 137 KB

english, 2006

26

The potential of measuring serum amyloid A in individual ewe milk and in farm bulk milk for monitoring udder health on sheep dairy farms

Petra Winter, Martina Miny, Klemens Fuchs, Walter Baumgartner

Journal:

Research in Veterinary Science

Year:

2006

Language:

english

File:

PDF, 162 KB

english, 2006

27

Genomic organization and localization of the gene encoding human preprogalanin

Helen Evans, Martina Baumgartner, John Shine, Herbert Herzog

Journal:

Year:

1993

Language:

english

File:

PDF, 603 KB

english, 1993

28

Role of Vpma phase variation in Mycoplasma agalactiae pathogenesis

Rohini Chopra-Dewasthaly, Martina Baumgartner, Erika Gamper, Carmen Innerebner, Martina Zimmermann, Franz Schilcher, Alexander Tichy, Petra Winter, Wolfgang Jechlinger, Renate Rosengarten, Joachim Spe

Journal:

FEMS Immunology & Medical Microbiology

Year:

2012

Language:

english

File:

PDF, 558 KB

english, 2012

29

Patient outcomes in schizophrenia II: the impact of cognition

Alex Hofer, Susanne Baumgartner, Thomas Bodner, Monika Edlinger, Martina Hummer, Georg Kemmler, Maria A. Rettenbacher, W. Wolfgang Fleischhacker

Journal:

European Psychiatry

Year:

2005

Language:

english

File:

PDF, 131 KB

english, 2005

30

Patient outcomes in schizophrenia I: correlates with sociodemographic variables, psychopathology, and side effects

Alex Hofer, Susanne Baumgartner, Monika Edlinger, Martina Hummer, Georg Kemmler, Maria A. Rettenbacher, Hansjoerg Schweigkofler, Josef Schwitzer, W. Wolfgang Fleischhacker

Journal:

European Psychiatry

Year:

2005

Language:

english

File:

PDF, 132 KB

english, 2005

31

The soluble leptin receptor in olanzapine-induced weight gain: results from a prospective study

Christoph Ebenbichler, Markus Laimer, Susanne Baumgartner, Monika Edlinger, Alex Hofer, Martina Hummer, Michael Kranebitter, Monika Lechleitner, Josef R. Patsch, Maria A. Rettenbacher, W. Wolfgang Fle

Journal:

Schizophrenia Research

Year:

2005

Language:

english

File:

PDF, 81 KB

english, 2005

32

Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome

Frühmesser, Anne, Vogt, Peter H., Zimmer, Jutta, Witsch-Baumgartner, Martina, Fauth, Christine, Zschocke, Johannes, Pinggera, Germar-Michael, Kotzot, Dieter

Journal:

Fertility and Sterility

Year:

2013

Language:

english

File:

PDF, 665 KB

english, 2013

33

Molybdenum(VI) Dioxo Complexes with Tridentate Phenolate Ligands

Judmaier, Martina E., Wallner, Andreas, Stipicic, Gregor N., Kirchner, Karl, Baumgartner, Judith, Belaj, Ferdinand, Mösch-Zanetti, Nadia C.

Journal:

Inorganic Chemistry

Year:

2009

Language:

english

File:

PDF, 2.32 MB

english, 2009

34

Prevalence of hypovitaminosis D and folate deficiency in healthy young female Austrian students in a health care profession

Stefan T. Kaehler, Holger Baumgartner, Martina Jeske…

Journal:

European Journal of Nutrition

Year:

2012

Language:

english

File:

PDF, 295 KB

english, 2012

35

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

Corinne M. Rüegger, Martin Lindner, Diana Ballhausen, Matthias R. Baumgartner, Skadi Beblo, Anibh Das, Matthias Gautschi, Esther M. Glahn, Sarah C. Grünert, Julia Hennermann, Michel Hochuli, Martina H

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 350 KB

english, 2014

36

The toxicity of silver nanoparticles to zebrafish embryos increases through sewage treatment processes

Muth-KÃ¶hne, Elke, Sonnack, Laura, Schlich, Karsten, Hischen, Florian, Baumgartner, Werner, Hund-Rinke, Kerstin, SchÃ¤fers, Christoph, Fenske, Martina

Journal:

Year:

2013

Language:

english

File:

PDF, 878 KB

english, 2013

37

Spatial and Temporal Overview of Research in Pediatric and Congenital Cardiology: Trends and Global Challenges

Bräutigam, Martina, Kempny, Aleksander, Radke, Robert, Baumgartner, Helmut, Diller, Gerhard-Paul

Journal:

Pediatric Cardiology

Year:

2014

Language:

english

File:

PDF, 1.77 MB

english, 2014

38

Cell persistence and electrical integration of transplanted fetal cardiomyocytes from different developmental stages

Halbach, Marcel, Baumgartner, Sven, Sahito, Raja Ghazanfar Ali, Krausgrill, Benjamin, Maass, Martina, Peinkofer, Gabriel, Ladage, Dennis, Hescheler, Jürgen, Müller-Ehmsen, Jochen

Journal:

International Journal of Cardiology

Year:

2014

Language:

english

File:

PDF, 384 KB

english, 2014

39

Mutations in the Δ 7-sterol Reductase Gene in Patients with the Smith--Lemli--Opitz Syndrome

Barbara U. Fitzky, Martina Witsch-Baumgartner, Martin Erdel, Joon No Lee, Young-Ki Paik, Hartmut Glossmann, Gerd Utermann and Fabian F. Moebius

Journal:

Proceedings of the National Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 1.94 MB

english, 1998

40

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Fischer, Sabine, Huemer, Martina, Baumgartner, Matthias, Deodato, Federica, Ballhausen, Diana, Boneh, Avihu, Burlina, Alberto B., Cerone, Roberto, Garcia, Paula, Gökçay, Gülden, Grünewald, Stephanie,

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 679 KB

english, 2014

41

Investigation of Different Apple Cultivars by High Resolution Magic Angle Spinning NMR. A Feasibility Study

Vermathen, Martina, Marzorati, Mattia, Baumgartner, Daniel, Good, Claudia, Vermathen, Peter

Journal:

Journal of Agricultural and Food Chemistry

Year:

2011

Language:

english

File:

PDF, 3.10 MB

english, 2011

42

Ligand-induced structural changes in the cyclic nucleotide-modulated potassium channel MloK1

Kowal, Julia, Chami, Mohamed, Baumgartner, Paul, Arheit, Marcel, Chiu, Po-Lin, Rangl, Martina, Scheuring, Simon, Schröder, Gunnar F., Nimigean, Crina M., Stahlberg, Henning

Journal:

Nature Communications

Year:

2014

Language:

english

File:

PDF, 2.73 MB

english, 2014

43

Genotype-based databases for variants causing rare diseases

Lanthaler, Barbara, Wieser, Stefanie, Deutschmann, Andrea, Schossig, Anna, Fauth, Christine, Zschocke, Johannes, Witsch-Baumgartner, Martina

Journal:

Year:

2014

Language:

english

File:

PDF, 219 KB

english, 2014

44

Birthday of a syndrome: 50 years anniversary of Smith–Lemli–Opitz Syndrome

Witsch-Baumgartner, Martina, Lanthaler, Barbara

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 299 KB

english, 2015

45

Oxo-molybdenum and oxo-tungsten complexes of Schiff bases relevant to molybdoenzymes

Lyashenko, Ganna, Saischek, Gerald, Judmaier, Martina E., Volpe, Manuel, Baumgartner, Judith, Belaj, Ferdinand, Jancik, Vojtech, Herbst-Irmer, Regine, Mösch-Zanetti, Nadia C.

Journal:

Dalton Transactions

Year:

2009

Language:

english

File:

PDF, 488 KB

english, 2009

46

[IEEE 2006 International Radar Symposium - Krakow, Poland (2006.05.24-2006.05.26)] 2006 International Radar Symposium - Study of System Design Parameters for Space-Based Traffic Monitoring

Gabele, Martina, Baumgartner, S., Krieger, G., Bethke, K.-H.

Year:

2006

Language:

english

File:

PDF, 408 KB

english, 2006

47

[IEEE 2006 International Radar Symposium - Krakow, Poland (2006.05.24-2006.05.26)] 2006 International Radar Symposium - Impact of Road Vehicle Accelerations on SAR-GMTI Motion Parameter Estimation

Baumgartner, Stefan, Gabele, Martina, Krieger, Gerhard, Bethke, Karl-Heinz, Zuev, Sergey

Year:

2006

Language:

english

File:

PDF, 2.64 MB

english, 2006

48

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Kamsteeg, Erik-Jan, Kress, Wolfram, Catalli, Claudio, Hertz, Jens M, Witsch-Baumgartner, Martina, Buckley, Michael F, van Engelen, Baziel G M, Schwartz, Marianne, Scheffer, Hans

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 486 KB

english, 2012

49

Clinical utility gene card for: Prototypic hereditary recurrent fever syndromes (monogenic autoinflammatory syndromes)

Witsch-Baumgartner, Martina, Touitou, Isabelle

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 200 KB

english, 2015

50

Discussion on “Surge investigations on overhead lines and cable systems” before the Institution, 10th April, 1930

Witsch-Baumgartner, Martina, Touitou, Isabelle

Journal:

Journal of the Institution of Electrical Engineers

Year:

1930

Language:

english

File:

PDF, 1.73 MB

english, 1930