E-LIB Suche - Ergebnisse für: Hoffjan, Sabine

1

Clustered variants in the 5′ coding region of TRA2B cause a..:

Ramond, Francis ; Dalgliesh, Caroline ; Grimmel, Mona...
https://portal.findresearcher.sdu.dk/da/publications/6b120d86-c88c-442e-9c6e-dcd7d8149e95. , 2023

Link: https://portal.findresea..

2

Cas9-Mediated Nanopore Sequencing Enables Precise Character..:

Skowronek, Dariush ; Pilz, Robin A ; Bonde, Loisa...
https://epub.ub.uni-greifswald.de/frontdoor/index/index/docId/10553. , 2022

Link: https://epub.ub.uni-grei..

3

Homozygous inversion on chromosome 13 involving SGCG detect..:

Pluta, Natalie ; Hoffjan, Sabine ; Zimmer, Frederic...
https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/28812. , 2022

Link: https://opus.bibliothek...

4

De novo missense variants in FBXO11 alter its protein expre..:

Gregor, Anne ; Meerbrei, Tanja ; Gerstner, Thorsten...
https://boris.unibe.ch/162630/. , 2022

Link: https://boris.unibe.ch/1..

5

Phoenix from the ashes: dramatic improvement in severe late..:

Biesalski, Anne-Sophie ; Hoffjan, Sabine ; Schneider, Ruth...
https://repository.publisso.de/resource/frl:6450206. , 2021

Link: https://repository.publi..

6

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 D..:

Gómez-Fernández, Paloma ; Lopez de Lapuente Portilla, Aitzkoa ; Astobiza, Ianire...
info:eu-repo/semantics/altIdentifier/doi/10.3390/cells9010175. , 2020

Link: https://hal.sorbonne-uni..

7

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 D..:

Gómez-Fernández, Paloma ; Lopez de Lapuente Portilla, Aitzkoa ; Astobiza, Ianire...
Cells. , 2020

Link: https://ddd.uab.cat/reco..

8

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 D..:

Gómez-Fernández, Paloma ; Lopez de Lapuente Portilla, Aitzkoa ; Astobiza, Ianire...
https://boris.unibe.ch/145004/. , 2020

Link: https://boris.unibe.ch/1..

9

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 D..:

Gómez-Fernández, Paloma ; Lopez de Lapuente Portilla, Aitzkoa ; Astobiza, Ianire...
info:eu-repo/semantics/altIdentifier/doi/10.3390/cells9010175. , 2020

Link: https://hal.sorbonne-uni..

10

The rare IL22RA2 signal peptide coding variant rs28385692 d..:

Gómez-Fernández, Paloma ; Lopez de Lapuente Portilla, Aitzkoa ; Astobiza, Ianire...
https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/20076. , 2020

Link: https://opus.bibliothek...

11

The Rare IL22RA2 Signal Peptide Coding Variant rs28385692 D..:

Gómez-Fernández, Paloma ; Lopez de Lapuente Portilla, Aitzkoa ; Astobiza, Ianire...
info:eu-repo/semantics/altIdentifier/doi/10.3390/cells9010175. , 2020

Link: https://hal.sorbonne-uni..

12

Neurology Genetics / TPP2 mutation associated with sterile ..:

Zimprich, Alexander ; Reinthaler, Eva M ; Graf, Elisabeth...
vignette : https://repositorium.meduniwien.ac.at/titlepage/urn/urn:nbn:at:at-ubmuw:3-12287/128. , 2018

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

13

TPP2 mutation associated with sterile brain inflammation mi..:

Reinthaler, Eva M ; Graf, Elisabeth ; Zrzavy, Tobias...
, 2018, 4:6,. , 2018

Link: http://urn.kb.se/resolve..

14

Vascular type Ehlers-Danlos syndrome is associated with pla..:

Busch, Albert ; Hoffjan, Sabine ; Bergmann, Frauke...
https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/14775. , 2016

Link: https://opus.bibliothek...

15

Vascular type Ehlers-Danlos syndrome is associated with pla..:

Busch, Albert ; Hoffjan, Sabine ; Bergmann, Frauke...
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/8092. , 2016

Link: https://opus4.kobv.de/op..