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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2005 2
2006 1
2008 1
2012 3
2013 3
2014 4
2015 3
2016 3
2017 2
2018 1
2019 1
2020 5
2021 2
2022 5
2023 2
2024 0

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30 results

Results by year

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Page 1
Identifying adult hypophosphatasia in the rheumatology unit.
Feurstein J, Behanova M, Haschka J, Roetzer K, Uyanik G, Hadzimuratovic B, Witsch-Baumgartner M, Schett G, Zwerina J, Kocijan R. Feurstein J, et al. Among authors: witsch baumgartner m. Orphanet J Rare Dis. 2022 Dec 14;17(1):435. doi: 10.1186/s13023-022-02572-7. Orphanet J Rare Dis. 2022. PMID: 36514157 Free PMC article.
Array genotyping as diagnostic approach in medical genetics.
Witsch-Baumgartner M, Schwaninger G, Schnaiter S, Kollmann F, Burkhard S, Gröbner R, Mühlegger B, Schamschula E, Kirchmeier P, Zschocke J. Witsch-Baumgartner M, et al. Mol Genet Genomic Med. 2022 Sep;10(9):e2016. doi: 10.1002/mgg3.2016. Epub 2022 Aug 1. Mol Genet Genomic Med. 2022. PMID: 35912641 Free PMC article.
Reply to Lao Q and Merke DP.
Baumgartner-Parzer S, Witsch-Baumgartner M, Hoeppner W. Baumgartner-Parzer S, et al. Among authors: witsch baumgartner m. Eur J Hum Genet. 2021 Jul;29(7):1045-1046. doi: 10.1038/s41431-021-00869-y. Epub 2021 Apr 7. Eur J Hum Genet. 2021. PMID: 33824470 Free PMC article. No abstract available.
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
Høyer H, Hilmarsen HT, Sunder-Plassmann R, Braathen GJ, Andersen PM, Beetz C, Hacker S, Holla ØL, Kurth I, Löscher WN, Reiter SBCF, Rudnik-Schöneborn S, Strand L, Windhager R, Witsch-Baumgartner M, Senderek J, Auer-Grumbach M. Høyer H, et al. Among authors: witsch baumgartner m. J Med Genet. 2022 Oct;59(10):1024-1026. doi: 10.1136/jmedgenet-2021-108281. Epub 2022 Mar 22. J Med Genet. 2022. PMID: 35318247 Free PMC article. No abstract available.
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Nagy D, Verheyen S, Wigby KM, Borovikov A, Sharkov A, Slegesky V, Larson A, Fagerberg C, Brasch-Andersen C, Kibæk M, Bader I, Hernan R, High FA, Chung WK, Schieving JH, Behunova J, Smogavec M, Laccone F, Witsch-Baumgartner M, Zobel J, Duba HC, Weis D. Nagy D, et al. Among authors: witsch baumgartner m. Genes (Basel). 2022 Jan 15;13(1):154. doi: 10.3390/genes13010154. Genes (Basel). 2022. PMID: 35052493 Free PMC article.
Amp(1q) and tetraploidy are commonly acquired chromosomal abnormalities in relapsed multiple myeloma.
Locher M, Jukic E, Vogi V, Keller MA, Kröll T, Schwendinger S, Oberhuber K, Verdorfer I, Mühlegger BE, Witsch-Baumgartner M, Nachbaur D, Willenbacher W, Gunsilius E, Wolf D, Zschocke J, Steiner N. Locher M, et al. Among authors: witsch baumgartner m. Eur J Haematol. 2023 Mar;110(3):296-304. doi: 10.1111/ejh.13905. Epub 2022 Dec 4. Eur J Haematol. 2023. PMID: 36433728 Free PMC article.
Genotype-based databases for variants causing rare diseases.
Lanthaler B, Wieser S, Deutschmann A, Schossig A, Fauth C, Zschocke J, Witsch-Baumgartner M. Lanthaler B, et al. Among authors: witsch baumgartner m. Gene. 2014 Oct 15;550(1):136-40. doi: 10.1016/j.gene.2014.08.016. Epub 2014 Aug 8. Gene. 2014. PMID: 25111118
30 results