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Mateja Smogavec
41  Ergebnisse:
Personensuche X
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1

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/..
 
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2

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/..
 
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3

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/..
 
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4

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/..
 
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5

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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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