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Mateja Smogavec
41
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Online (41)
Mediatypes
Articles (Online) (11)
OpenAccess-fulltext (29)
Thesis (Online) (1)
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german (4)
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1
Performance of clinical risk scores and prediction models t..:
Rebhan, Katharina
;
Stelzer, Philipp D.
;
Pradere, Benjamin
...
World Journal of Urology. 41 (2023) 8 - p. 2091-2097 , 2023
Link:
https://doi.org/10.1007/..
?
2
Brain malformations in diprosopia observed in clinical case..:
Rehder, Helga
;
Kircher, Susanne G.
;
Schoner, Katharina
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
?
3
Mycobacterium avium Complex Infections: Detailed Phenotypic..:
Kratzer, Bernhard
;
Grabmeier-Pfistershammer, Katharina
;
Trapin, Doris
...
International Archives of Allergy and Immunology. 184 (2023) 9 - p. 914-931 , 2023
Link:
https://doi.org/10.1159/..
?
4
Large neutral amino acid levels tune perinatal neuronal exc..:
Knaus, Lisa S.
;
Basilico, Bernadette
;
Malzl, Daniel
...
Cell. 186 (2023) 9 - p. 1950-1967.e25 , 2023
Link:
https://doi.org/10.1016/..
?
5
Phenotyping of a novel COL4A4 and novel GLA variant in a pa..:
Ponleitner, Markus
;
Allmer, Daniela Maria
;
Hecking, Manfred
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
6
Singleton exome sequencing of 90 fetuses with ultrasound an..:
Smogavec, Mateja
;
Gerykova Bujalkova, Maria
;
Lehner, Reinhard
...
European Journal of Human Genetics. 30 (2022) 4 - p. 428-438 , 2022
Link:
https://doi.org/10.1038/..
?
7
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopm..:
Nagy, Dóra
;
Verheyen, Sarah
;
Wigby, Kristen M.
...
Genes. 13 (2022) 1 - p. 154 , 2022
Link:
https://doi.org/10.3390/..
?
8
Genetische Diagnostik:
Smogavec, Mateja
;
Neesen, Jürgen
;
Laccone, Franco
Wiener klinische Wochenschrift Education. 14 (2019) 1-4 - p. 29-47 , 2019
Link:
https://doi.org/10.1007/..
?
9
Down syndrome phenotype in a boy with a mosaic microduplica..:
Schnabel, Franziska
;
Smogavec, Mateja
;
Funke, Rudolf
...
Molecular Cytogenetics. 11 (2018) 1 - p. , 2018
Link:
https://doi.org/10.1186/..
?
10
Gene panel testing of 5589 BRCA1/2‐negative index patients ..:
Hauke, Jan
;
Horvath, Judit
;
Groß, Eva
...
Cancer Medicine. 7 (2018) 4 - p. 1349-1358 , 2018
Link:
https://doi.org/10.1002/..
?
11
Intragenic duplication of EHMT1 gene results in Kleefstra s..:
Schwaibold, Eva Maria Christina
;
Smogavec, Mateja
;
Hobbiebrunken, Elke
...
Molecular Cytogenetics. 7 (2014) 1 - p. , 2014
Link:
https://doi.org/10.1186/..
?
12
DataSheet1_Phenotyping of a novel COL4A4 and novel GLA vari..:
Markus Ponleitner
;
Daniela Maria Allmer
;
Manfred Hecking
...
doi:10.3389/fgene.2023.1211858.s001. , 2023
Link:
https://doi.org/10.3389/..
?
13
Phenotyping of a novel COL4A4 and novel GLA variant in a pa..:
Markus Ponleitner
;
Daniela Maria Allmer
;
Manfred Hecking
...
https://www.frontiersin.org/articles/10.3389/fgene.2023.1211858/full. , 2023
Link:
https://doi.org/10.3389/..
?
14
Brain malformations in diprosopia observed in clinical case..:
Helga Rehder
;
Susanne G. Kircher
;
Katharina Schoner
...
https://doi.org/10.1186/s13023-023-02617-5. , 2023
Link:
https://doi.org/10.1186/..
?
15
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopm..:
Dóra Nagy
;
Sarah Verheyen
;
Kristen M. Wigby
...
https://www.mdpi.com/2073-4425/13/1/154. , 2022
Link:
https://doi.org/10.3390/..
1-15