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

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

3

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

Mutations in the human DHCR7 gene

Martina Witsch-Baumgartner, Judith Löffler, Gerd Utermann

Journal:

Year:

2001

Language:

english

File:

PDF, 356 KB

english, 2001

12

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

13

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

14

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Huemer, Martina, Kožich, Viktor, Rinaldo, Piero, Baumgartner, Matthias R., Merinero, Begoña, Pasquini, Elisabetta, Ribes, Antonia, Blom, Henk J.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 442 KB

english, 2015

15

»I am what I write«

Baumgartner, Martina

Journal:

Österreichische Musikzeitschrift

Year:

2014

Language:

german

File:

PDF, 131 KB

german, 2014

16

Cognitive Neurostimulation of the Dopaminergic Midbrain with Real Time fMRI Neurofeedback Training: A Novel Treatment Approach for Cocaine Addiction?

Kirschner, Matthias, Sladky, Ronald, Stämpfli, Philipp, Jehli, Elisabeth, Hodel, Martina, Engeli, Etna, Hulka, Lea, Scharnowski, Frank, Baumgartner, Markus, Seifritz, Erich, Sulzer, James, Quednow, Bo

Journal:

Biological Psychiatry

Year:

2017

Language:

english

File:

PDF, 45 KB

english, 2017

17

Handschlag vermeiden – Influenza

Bossow, Karsten, Trampuz, Andrej, Baumgärtner, Martina

Journal:

Year:

2019

Language:

german

File:

PDF, 2.49 MB

german, 2019

18

Association of Nutritional Support With Clinical Outcomes Among Medical Inpatients Who Are Malnourished or at Nutritional Risk

Gomes, Filomena, Baumgartner, Annic, Bounoure, Lisa, Bally, Martina, Deutz, Nicolaas E., Greenwald, Jeffrey L., Stanga, Zeno, Mueller, Beat, Schuetz, Philipp

Journal:

JAMA Network Open

Year:

2019

Language:

english

File:

PDF, 1.04 MB

english, 2019

19

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

20

Insulin regulates hepatic triglyceride secretion and lipid content via signaling in the brain

Scherer, Thomas, Lindtner, Claudia, O’Hare, James, Hackl, Martina, Zielinski, Elizabeth, Freudenthaler, Angelika, Baumgartner-Parzer, Sabina, Tödter, Klaus, Heeren, Joerg, Krššák, Martin, Scheja, Ludg

Journal:

Year:

2016

Language:

english

File:

PDF, 3.68 MB

english, 2016

21

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

22

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

23

Association Between Antipsychotic-induced Elevation of Liver Enzymes and Weight Gain

Rettenbacher, Maria A., Baumgartner, Susanne, Eder-Ischia, Ursula, Edlinger, Monika, Graziadei, Ivo, Hofer, Alex, Huber, Regina, Hummer, Martina, Kemmler, Georg, Weiss, Elisabeth, Fleischhacker, W. Wo

Journal:

Journal of Clinical Psychopharmacology

Year:

2006

Language:

english

File:

PDF, 77 KB

english, 2006

24

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

25

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

26

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2

Fauth, Christine, Steindl, Katharina, Toutain, Annick, Farrell, Sandra, Witsch-Baumgartner, Martina, Karall, Daniela, Joset, Pascal, Böhm, Sebastian, Baumer, Alessandra, Maier, Oliver, Zschocke, Johan

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 600 KB

english, 2016

27

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

28

Smith‐Lemli‐Opitz syndrome — Fetal phenotypes with special reference to the syndrome‐specific internal malformation pattern

Schoner, Katharina, Witsch‐Baumgartner, Martina, Behunova, Jana, Petrovic, Robert, Bald, Rainer, Kircher, Susanne G., Ramaswamy, Annette, Kluge, Britta, Meyer‐Wittkopf, Matthias, Schmitz, Ralf, Fritz,

Journal:

Birth Defects Research

Year:

2019

File:

PDF, 2.94 MB

2019

29

Comparison of the population structure of Streptococcus uberis mastitis isolates from Austrian small-scale dairy farms and a Slovakian large-scale farm

Wald, Regina, Baumgartner, Martina, Gutschireiter, Julia, Bazzanella, Benjamin, Lichtmannsperger, Katharina, Wagner, Martin, Wittek, Thomas, Stessl, Beatrix

Journal:

Journal of Dairy Science

Year:

2019

File:

PDF, 1.01 MB

2019

30

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

31

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

32

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

33

Combination drug treatment prolongs survival of experimentally infected mice with silver-haired bat rabies virus

Martina, Byron E.E., Smreczak, Marcin, Orlowska, Anna, Marzec, Anna, Trebas, Pawel, Roose, Jouke M., Zmudzinski, Jan, Gerhauser, Ingo, Wohlsein, Peter, Baumgärtner, Wolfgang, Osterhaus, Albert D.M.E.,

Journal:

Year:

2018

Language:

english

File:

PDF, 594 KB

english, 2018

34

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

35

Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations

Lanthaler, Barbara, Steichen-Gersdorf, Elisabeth, Kollerits, Barbara, Zschocke, Johannes, Witsch-Baumgartner, Martina

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 577 KB

english, 2013

36

Successful intrauterine treatment of a patient with cobalamin C defect

Trefz, Friedrich K., Scheible, Dagmar, Frauendienst-Egger, Georg, Huemer, Martina, Suomala, Terttu, Fowler, Brian, Haas, Dorothea, Baumgartner, Matthias R.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2016

Language:

english

File:

PDF, 586 KB

english, 2016

37

Diagnostic accuracy of a standardized scheme for identification of Streptococcus uberis in quarter milk samples: A comparison between conventional bacteriological examination, modified Rambach agar medium culturing, and 16S rRNA gene sequencing

Wald, Regina, Baumgartner, Martina, Urbantke, Verena, Stessl, Beatrix, Wittek, Thomas

Journal:

Journal of Dairy Science

Year:

2017

Language:

english

File:

PDF, 493 KB

english, 2017

38

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

39

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

40

Green and highly efficient synthesis of perylene and naphthalene bisimides in nothing but water

Baumgartner, Bettina, Svirkova, Anastasiya, Bintinger, Johannes, Hametner, Christian, Marchetti-Deschmann, Martina, Unterlass, Miriam M.

Journal:

Chemical Communications

Year:

2016

Language:

english

File:

PDF, 1.68 MB

english, 2016

41

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

42

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:

2018

Language:

english

File:

PDF, 1.17 MB

english, 2018

43

The Third Wave of LCA as the “Decade of Consolidation”

Zimek, Martina, Schober, Andreas, Mair, Claudia, Baumgartner, Rupert J., Stern, Tobias, Füllsack, Manfred

Journal:

Year:

2019

Language:

english

File:

PDF, 2.30 MB

english, 2019

44

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

45

Impact of Femtosecond Laser Treatment Accompanied with Anodization of Titanium Alloy on Fibroblast Cell Growth

Lone, Shaukat Ali, Muck, Martina, Fosodeder, Peter, Mardare, Cezarina Cela, Florian, Camilo, Weth, Agnes, KrÃ¼ger, JÃ¶rg, Steinwender, Clemens, Baumgartner, Werner, Bonse, JÃ¶rn, Heitz, Johannes, Hass

Journal:

physica status solidi (a)

Year:

2020

Language:

english

File:

PDF, 1.88 MB

english, 2020

46

Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant

Lepperdinger, Ulrike, Maurer, Elisabeth, Witsch-Baumgartner, Martina, Stigler, Robert, Zschocke, Johannes, Lussi, Adrian, Kapferer-Seebacher, Ines

Journal:

Clinical Oral Investigations

Year:

2020

Language:

english

File:

PDF, 1.01 MB

english, 2020

47

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

48

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

49

Characterization of Staphylococcus Species Isolated from Bovine Quarter Milk Samples

Wald, Regina, Hess, Claudia, Urbantke, Verena, Wittek, Thomas, Baumgartner, Martina

Journal:

Year:

2019

Language:

english

File:

PDF, 1022 KB

english, 2019

50

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

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