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Brugger, Karin
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1

Case Report—An Inherited Loss-of-Function NRXN3 Variant Pot..:

Feichtinger, René G. ; Preisel, Martin ; Brugger, Karin..
Genes.  14 (2023)  6 - p. 1217 , 2023
Link: https://doi.org/10.3390/..
 
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2

PPA1 Deficiency Causes a Deranged Galactose Metabolism Reco..:

Achleitner, Melanie T. ; Jans, Judith J. M. ; Ebner, Laura...
Metabolites.  13 (2023)  11 - p. 1141 , 2023
Link: https://doi.org/10.3390/..
 
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3

A TSHZ3 Frame-Shift Variant Causes Neurodevelopmental and R..:

Feichtinger, René G. ; Preisel, Martin ; Steinbrücker, Katja...
Genes.  13 (2022)  12 - p. 2191 , 2022
Link: https://doi.org/10.3390/..
 
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4

A novel cryptic splice site mutation in COL1A2 as a cause o..:

El-Gazzar, Ahmed ; Mayr, Johannes A. ; Voraberger, Barbara...
Bone Reports.  15 (2021)  - p. 101110 , 2021
Link: https://doi.org/10.1016/..
 
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5

A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a..:

Feichtinger, René G ; Hüllen, Andreas ; Koller, Andreas...
EMBO Molecular Medicine.  13 (2021)  9 - p. , 2021
Link: https://doi.org/10.15252..
 
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6

Expanding the clinical and genetic spectrum of CAD deficien..:

Rymen, Daisy ; Lindhout, Martijn ; Spanou, Maria...
Genetics in Medicine.  22 (2020)  10 - p. 1589-1597 , 2020
Link: https://doi.org/10.1038/..
 
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7

Unusual clinical manifestation of linear IgA dermatosis: A ..:

Cauza, Karla ; Hinterhuber, Gabriele ; Sterniczky, Barbara...
Journal of the American Academy of Dermatology.  51 (2004)  2 - p. 112-117 , 2004
Link: https://doi.org/10.1016/..
 
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8

PPA1 Deficiency Causes a Deranged Galactose Metabolism Reco..:

Achleitner, Melanie T ; Jans, Judith J M ; Ebner, Laura...
2218-1989.  , 2023
Link: https://dspace.library.u..
 
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9

Bone Reports / A novel cryptic splice site mutation in COL1..:

El-Gazzar, Ahmed ; Mayr, Johannes A ; Voraberger, Barbara...
vignette : https://epub.jku.at/titlepage/urn/urn:nbn:at:at-ubl:3-18514/128.  , 2021
Link: https://doi.org/10.1016/..
 
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10

Bone Reports / A novel cryptic splice site mutation in COL1..:

El-Gazzar, Ahmed ; Mayr, Johannes A ; Voraberger, Barbara...
vignette : https://epub.jku.at/titlepage/urn/urn:nbn:at:at-ubl:3-10202/128.  , 2021
Link: https://doi.org/10.1016/..
 
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11

Expanding the clinical and genetic spectrum of CAD deficien..:

Rymen, Daisy ; Lindhout, Martijn ; Spanou, Maria...
Rymen , D , Lindhout , M , Spanou , M , Ashrafzadeh , F , Benkel , I , Betzler , C , Coubes , C , Hartmann , H , Kaplan , J D , Ballhausen , D , Koch , J , Lotte , J , Mohammadi , M H , Rohrbach , M , Dinopoulos , A , Wermuth , M , Willis , D , Brugger , K , Wevers , R A , Boltshauser , E , Bierau , J , Mayr , J A & Wortmann , S B 2020 , ' Expanding the clinical and genetic spectrum of CAD deficiency : an epileptic encephalopathy treatable with uridine supplementation ' , Genetics in Medicine , vol. 22 , no. 10 , pp. 1589-1597 . https://doi.org/10.1038/s41436-020-0933-z.  , 2020
Link: https://cris.maastrichtu..
 
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12

BOLA (BolA Family Member 3) Deficiency Controls Endothelial..:

Yu, Qiujun ; Tai, Yi-Yin ; Tang, Ying...
qt8ks25518.  , 2019
Link: https://escholarship.org..
 
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13

Modified subcutaneously pedicled flap:

Koller, Josef ; Hintersteininger, Arno ; Brugger-Jentsch, Karin
JDDG: Journal der Deutschen Dermatologischen Gesellschaft.  13 (2015)  11 - p. 1200-1203 , 2015
Link: https://doi.org/10.1111/..
 
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14

Die modifizierte subkutan gestielte Lappenplastik: Modified..:

Koller, Josef ; Hintersteininger, Arno ; Brugger-Jentsch, Karin
JDDG: Journal der Deutschen Dermatologischen Gesellschaft.  13 (2015)  11 - p. 1200-1203 , 2015
Link: https://doi.org/10.1111/..
 
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15

Case Report—An Inherited Loss-of-Function NRXN3 Variant Pot..:

René G. Feichtinger ; Martin Preisel ; Karin Brugger..
https://www.mdpi.com/2073-4425/14/6/1217.  , 2023
Link: https://doi.org/10.3390/..
 
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