E-LIB Suche - Ergebnisse für: Mateja Smogavec

1

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

2

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/..

3

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

Knaus, Lisa ; Basilico, Bernadette ; Malzl, Daniel...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.cell.2023.02.037. , 2023

Link: https://research-explore..

4

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/..

5

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/..

6

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..

7

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...

8

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/..

9

Phenotyping of a novel COL4A4 and novel GLA variant in a pa..:

Ponleitner, Markus ; Allmer, Daniela Maria ; Hecking, Manfred...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267447/. , 2023

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

10

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopm..:

Nagy, Dóra ; Verheyen, Sarah ; Wigby, Kristen M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8775410/. , 2022

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

11

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/..

12

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopm..:

Nagy, Dóra ; Verheyen, Sarah ; Wigby, Kristen M...
Nagy , D , Verheyen , S , Wigby , K M , Borovikov , A , Sharkov , A , Slegesky , V , Larson , A , Fagerberg , C , Brasch-Andersen , C , Kibæk , M , Bader , I , Hernan , R , High , F A , Chung , W K , Schieving , J H , Behunova , J , Smogavec , M , Laccone , F , Witsch-Baumgartner , M , Zobel , J , Duba , H C & Weis , D 2022 , ' Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring ' , Genes , vol. 13 , no. 1 , 154 . https://doi.org/10.3390/genes13010154. , 2022

Link: https://portal.findresea..

13

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopm..:

Dóra Nagy ; Sarah Verheyen ; Kristen M. Wigby...
Human Genomics and Genetic Diseases. , 2022

Link: https://doi.org/10.3390/..

14

Wiener klinische Wochenschrift Education / Genetische Diagn..:

Laccone, Franco ; Smogavec, Mateja ; Neesen, Jürgen
vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-29589/128. , 2019

Link: https://resolver.obvsg.a..

15

Identifizierung von Patientinnen und Patienten mit der here..:

Smogavec, Mateja
http://hdl.handle.net/21.11130/00-1735-0000-0003-C127-7. , 2019

Link: http://hdl.handle.net/21..