E-LIB Suche - Ergebnisse für: Thoenes, Michaela

1

The first genome‐wide association study in the Argentinian ..:

Dalmasso, Maria Carolina ; de Rojas, Itziar ; Olivar, Natividad...
Alzheimer's & Dementia. 20 (2023) 2 - p. 1298-1308 , 2023

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

2

Generation of a set of isogenic iPSC lines carrying all APO..:

Schmid, Benjamin ; Holst, Bjørn ; Clausen, Christian...
Stem Cell Research. 52 (2021) - p. 102180 , 2021

Link: https://doi.org/10.1016/..

3

Recurrent and Prolonged Infections in a Child with a Homozy..:

Zaki, Maha ; Thoenes, Michaela ; Kawalia, Amit...
Frontiers in Genetics. 8 (2017) - p. , 2017

Link: https://doi.org/10.3389/..

4

A TUBB6 mutation is associated with autosomal dominant non-..:

Fazeli, Walid ; Herkenrath, Peter ; Stiller, Barbara...
Human Molecular Genetics. 26 (2017) 20 - p. 4055-4066 , 2017

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

5

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand F..:

Bögershausen, Nina ; Gatinois, Vincent ; Riehmer, Vera...
Human Mutation. 37 (2016) 9 - p. 847-864 , 2016

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

6

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Dea..:

Zaki, Maha S. ; Heller, Raoul ; Thoenes, Michaela...
Human Mutation. 37 (2015) 2 - p. 170-174 , 2015

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

7

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/..

8

TALPID3 controls centrosome and cell polarity and the human..:

Stephen, Louise A ; Tawamie, Hasan ; Davis, Gemma M...
eLife. 4 (2015) - p. , 2015

Link: https://doi.org/10.7554/..

9

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/..

10

Mutation ofPOC1Bin a Severe Syndromic Retinal Ciliopathy:

Beck, Bodo B. ; Phillips, Jennifer B. ; Bartram, Malte P....
Human Mutation. 35 (2014) 10 - p. 1153-1162 , 2014

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

11

The supposed tumor suppressor gene WWOX is mutated in an ea..:

Abdel-Salam, Ghada ; Thoenes, Michaela ; Afifi, Hanan H...
Orphanet Journal of Rare Diseases. 9 (2014) 1 - p. , 2014

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

12

A mutation screen in patients with Kabuki syndrome:

Li, Yun ; Bögershausen, Nina ; Alanay, Yasemin...
Human Genetics. 130 (2011) 6 - p. 715-724 , 2011

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

13

Recurrent and Prolonged Infections in a Child with a Homozy..:

Zaki, Maha ; Thoenes, Michaela ; Kawalia, Amit...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5614965/. , 2017

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

14

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A a..:

Kayserili, Huelya ; Becker, Jutta ; Thoenes, Michaela...
e411c903-1db0-419e-8766-54fa9d017a77. , 2016

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

15

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..