Endele, S
28  Ergebnisse:
Personensuche X
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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
 
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4

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
 
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6

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
 
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9

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
 
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10

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
 
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11

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
 
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