E-LIB Suche - Ergebnisse für: Smogavec, Mateja

1

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/..

2

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/..

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

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/..

5

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/..

6

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/..

7

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/..

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

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/..

10

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/..

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

International Archives of Allergy and Immunology / Mycobact..:

Pickl, Winfried F ; Kratzer, Bernhard ; Grabmeier-Pfistershammer, Katharina...
vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-80049/128. , 2023

Link: https://doi.org/10.1159/..

13

Brain malformations in diprosopia observed in clinical case..:

Rehder, Helga ; Kircher, Susanne G ; Schoner, Katharina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10018849/. , 2023

Link: http://www.ncbi.nlm.nih...

14

Large neutral amino acid levels tune perinatal neuronal exc..:

Knaus, Lisa S ; Basilico, Bernadette ; Malzl, Daniel...
info:eu-repo/semantics/altIdentifier/pmid/36996814. , 2023

Link: https://hdl.handle.net/1..

15

World Journal of Urology / Performance of clinical risk sco..:

Hassler, Melanie R ; Rebhan, Katharina ; Stelzer, Philipp D...
vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-79955/128. , 2023

Link: https://doi.org/10.1007/..