Imperial College London
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ProfessorNicholasMazarakis

Faculty of Medicine, Department of Brain Sciences

Chair MolBioMedicine and Head of Gene Therapy
 
 
 
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Contact

 

+44 (0)20 7594 7024n.mazarakis Website

 
 
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Assistant

 

Mrs Hadeel Abdeen +44 (0)20 7594 7014

 
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Location

 

E402Burlington DanesHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Frasca:2022:10.1212/NXG.0000000000000666,
author = {Frasca, A and Pavlidou, E and Bizzotto, M and Gao, Y and Balestra, D and Pinotti, M and Dahl, HA and Mazarakis, ND and Landsberger, N and Kinali, M},
doi = {10.1212/NXG.0000000000000666},
journal = {NEUROLOGY-GENETICS},
title = {Not Just Loss-of-Function Variations Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution},
url = {http://dx.doi.org/10.1212/NXG.0000000000000666},
volume = {8},
year = {2022}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AU  - Frasca,A
AU  - Pavlidou,E
AU  - Bizzotto,M
AU  - Gao,Y
AU  - Balestra,D
AU  - Pinotti,M
AU  - Dahl,HA
AU  - Mazarakis,ND
AU  - Landsberger,N
AU  - Kinali,M
DO  - 10.1212/NXG.0000000000000666
PY  - 2022///
SN  - 2376-7839
TI  - Not Just Loss-of-Function Variations Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution
T2  - NEUROLOGY-GENETICS
UR  - http://dx.doi.org/10.1212/NXG.0000000000000666
UR  - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000779091600011&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=a2bf6146997ec60c407a63945d4e92bb
VL  - 8
ER  -
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