E-LIB Suche - Ergebnisse für: Endele, S

1

Kirschner-Draht-Osteosynthese von Frakturen des Condylus ra..:

Fernandez, F.F. ; Eberhardt, O. ; von Kalle, T...
Obere Extremität. 4 (2009) 1 - p. 26-32 , 2009

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

2

LETM1, deleted in Wolf Hirschhorn syndrome is required for ..:

Dimmer, K. S. ; Navoni, F. ; Casarin, A....
Human Molecular Genetics. 17 (2007) 2 - p. 201-214 , 2007

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

3

The recurrent missense mutation p.(Arg367Trp) in YARS1 caus..:

Averdunk, L ; Sticht, H ; Surowy, H...
https://discovery.ucl.ac.uk/id/eprint/10136448/1/Averdunk2021_Article_TheRecurrentMissenseMutationPA.pdf. , 2021

Link: https://discovery.ucl.ac..

4

Mutations in the BAF-Complex Subunit DPF2 Are Associated wi..:

Vasileiou, Georgia ; Vergarajauregui, Silvia ; Endele, Sabine...
Vasileiou , G , Vergarajauregui , S , Endele , S , Popp , B , Büttner , C , Ekici , A B , Gerard , M , Bramswig , N C , Albrecht , B , Clayton-Smith , J , Morton , J , Tomkins , S , Low , K , Weber , A , Wenzel , M , Altmüller , J , Li , Y , Wollnik , B , Hoganson , G , Plona , M R , Cho , M T , Thiel , C T , Lüdecke , H J , Strom , T M , Calpena , E , Wilkie , A O M , Wieczorek , D , Engel , F B , Reis , A & Deciphering Developmental Disorders Study 2018 , ' Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome ' , American Journal of Human Genetics , vol. 102 , no. 3 , pp. 468-479 . https://doi.org/10.1016/j.ajhg.2018.01.014. , 2018

Link: https://research.manches..

5

Mutations in the BAF-complex subunit DPF2 are associated wi..:

Vasileiou, G ; Vergarajauregui, S ; Endele, S...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2018.01.014. , 2018

Link: https://push-zb.helmholt..

6

Mutations in the BAF-complex subunit DPF2 associated with C..:

Vasileiou, G ; Vergarajauregui, S ; Endele, S...
doi:10.1016/j.ajhg.2018.01.014. , 2018

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

7

Loss-of-function variants in HIVEP2 are a cause of intellec..:

Srivastava, S ; Engels, H ; Schanze, I...
info:eu-repo/semantics/altIdentifier/doi/10.1038/ejhg.2015.151. , 2016

Link: https://push-zb.helmholt..

8

In-Frame Deletion and Missense Mutations of the C-Terminal ..:

Wolff, D ; Endele, S ; Azzarello-Burri, S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362220. , 2012

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

9

Langzeitergebnisse nach intramedullärer Stabilisation von d..:

Fernandez, F ; Endele, S ; Eberhardt, O.
http://dx.doi.org/10.3205/09dkou241. , 2009

Link: https://doi.org/10.3205/..

10

Partial deletion of 4p and 4q in a fetus with ring chromoso..:

Kocks, A ; Endele, S ; Heller, R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735105. , 2002

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

11

The recurrent missense mutation p.(Arg367Trp) in YARS1 caus..:

Averdunk, Luisa ; Sticht, Heinrich ; Surowy, Harald...
Journal of Molecular Medicine. 99 (2021) 12 - p. 1755-1768 , 2021

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

12

Correction to: The recurrent missense mutation p.(Arg367Trp..:

Averdunk, Luisa ; Sticht, Heinrich ; Surowy, Harald...
Journal of Molecular Medicine. 99 (2021) 12 - p. 1769-1770 , 2021

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

13

Asymmetric lysosome inheritance predicts activation of haem..:

Loeffler, Dirk ; Wehling, Arne ; Schneiter, Florin...
Nature. 573 (2019) 7774 - p. 426-429 , 2019

Link: https://doi.org/10.1038/..

14

Publisher Correction: Asymmetric lysosome inheritance predi..:

Loeffler, Dirk ; Wehling, Arne ; Schneiter, Florin...
Nature. 573 (2019) 7775 - p. E5-E5 , 2019

Link: https://doi.org/10.1038/..

15

Software tools for single-cell tracking and quantification ..:

Hilsenbeck, Oliver ; Schwarzfischer, Michael ; Skylaki, Stavroula...
Nature Biotechnology. 34 (2016) 7 - p. 703-706 , 2016

Link: https://doi.org/10.1038/..