Brugger, Karin
57  Ergebnisse:
Personensuche X
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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
 
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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
 
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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
 
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13

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
 
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BOLA3 deficiency controls endothelial metabolism and glycin..:

Yu, Qiujun ; Tai, Yi-Yin ; Tang, Ying...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6519484/.  , 2019
 
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