E-LIB Suche - Ergebnisse für: Ebermann, Inga

1

Non-manifesting AHI1 truncations indicate localized loss-of..:

Elsayed, Solaf M. ; Phillips, Jennifer B. ; Heller, Raoul...
Human Molecular Genetics. 24 (2015) 9 - p. 2594-2603 , 2015

Link: https://doi.org/10.1093/..

2

OSBPL2 encodes a protein of inner and outer hair cell stere..:

Thoenes, Michaela ; Zimmermann, Ulrike ; Ebermann, Inga...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

3

Targeted next-generation sequencing identifies a homozygous..:

Eisenberger, Tobias ; Slim, Rima ; Mansour, Ahmad...
Orphanet Journal of Rare Diseases. 7 (2012) 1 - p. , 2012

Link: https://doi.org/10.1186/..

4

Identifizierung und funktionelle Charakterisierung von Gene..:

Ebermann, Inga , 2009

Link: http://nbn-resolving.de/..

5

Usher syndrome type 1 due to missense mutations on bothCDH2..:

Becirovic, Elvir ; Ebermann, Inga ; Nagy, Ditta...
Human Mutation. 29 (2008) 3 - p. 452-452 , 2008

Link: https://doi.org/10.1002/..

6

Truncating mutation of theDFNB59gene causes cochlear hearin..:

Ebermann, Inga ; Walger, Martin ; Scholl, Hendrik P.N....
Human Mutation. 28 (2007) 6 - p. 571-577 , 2007

Link: https://doi.org/10.1002/..

7

A novel gene for Usher syndrome type 2: mutations in the lo..:

Ebermann, Inga ; Scholl, Hendrik P. N. ; Charbel Issa, Peter...
Human Genetics. 121 (2006) 2 - p. 203-211 , 2006

Link: https://doi.org/10.1007/..

8

OSBPL2 encodes a protein of inner and outer hair cell stere..:

Thoenes, Michaela ; Zimmermann, Ulrike ; Ebermann, Inga...
Thoenes , M , Zimmermann , U , Ebermann , I , Ptok , M , Lewis , M A , Thiele , H , Morlot , S , Hess , M M , Gal , A , Eisenberger , T , Bergmann , C , Nürnberg , G , Nürnberg , P , Steel , K P , Knipper , M & Bolz , H J 2015 , ' OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67) ' , Orphanet Journal of Rare Diseases , vol. 10 , no. 1 , 15 . https://doi.org/10.1186/s13023-015-0238-5. , 2015

Link: https://kclpure.kcl.ac.u..

9

OSBPL2 encodes a protein of inner and outer hair cell stere..:

Thoenes, Michaela ; Zimmermann, Ulrike ; Ebermann, Inga...
Thoenes , M , Zimmermann , U , Ebermann , I , Ptok , M , Lewis , M A , Thiele , H , Morlot , S , Hess , M M , Gal , A , Eisenberger , T , Bergmann , C , Nürnberg , G , Nürnberg , P , Steel , K P , Knipper , M & Bolz , H J 2015 , ' OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67) ' , Orphanet Journal of Rare Diseases , vol. 10 , no. 1 , 15 . https://doi.org/10.1186/s13023-015-0238-5. , 2015

Link: https://kclpure.kcl.ac.u..

10

OSBPL2 encodes a protein of inner and outer hair cell stere..:

Thoenes, Michaela ; Zimmermann, Ulrike ; Ebermann, Inga...
http://www.ojrd.com/content/10/1/15. , 2015

Link: http://www.ojrd.com/cont..

11

Autosomal dominant SCA5 and autosomal recessive infantile S..:

Elsayed, Solaf M ; Heller, Raoul ; Thoenes, Michaela...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

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

12

Localization of Usher 1 proteins to the photoreceptor calyc..:

Sahly, Iman ; Dufour, Eric ; Schietroma, Cataldo...
info:eu-repo/semantics/altIdentifier/doi/10.1083/jcb.201202012. , 2012

Link: https://inserm.hal.scien..

13

Localization of Usher 1 proteins to the photoreceptor calyc..:

Sahly, Iman ; Dufour, Eric ; Schietroma, Cataldo...
info:eu-repo/semantics/altIdentifier/doi/10.1083/jcb.201202012. , 2012

Link: https://inserm.hal.scien..

14

Targeted next-generation sequencing identifies a homozygous..:

Eisenberger Tobias ; Slim Rima ; Mansour Ahmad...
http://www.ojrd.com/content/7/1/59. , 2012

Link: https://doi.org/10.1186/..

15

Localization of Usher 1 proteins to the photoreceptor calyc..:

Sahly, Iman ; Dufour, Eric ; Schietroma, Cataldo...
info:eu-repo/semantics/altIdentifier/doi/10.1083/jcb.201202012. , 2012

Link: https://inserm.hal.scien..