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1 research outputs found
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
Author
Achkar C.M. el
Backer E.
+56Â more
Bearden D.
Begtrup A.
Bellescize J. de
Bijlsma E.K.
Bruel A.L.
Brunner H.G.
Burglen L.
C4RCD Res Grp
Chatron N.
Cho M.T.
DDD Study
Donadieu J.
Duffourd Y.
Faivre L.
Guibaud L.
Heron D.
Jean-Marcais N.
Kamsteeg E.J.
Keren B.
Krock B.L.
Lelieveld S.H.
Lesca G.
Lunsing R.J.
Mau-Them F.T.
Narayanan V.
Nava C.
Nesbitt A.I.
Olson H.E.
Pearl P.L.
Philippe C.
Poduri A.
Putte D.E.F. van de
Ramsey K.M.
Reijnders M.R.F.
Riviere J.B.
Ruivenkamp C.A.L.
Rump P.
Sabatier I.
Schuurs-Hoeijmakers J.
Sheidley B.R.
Sinnema M.
Skraban C.M.
Smith L.A.
Sweetser D.A.
Tarpinian J.
Tatton-Brown K.
Telegrafi A.
Thauvin-Robinet C.
Thevenon J.
Thomas G.
Thomas L.
Vitobello A.
Waxler J.L.
Wierenga K.J.
Yang E.
Zwaag P.A. van der
Publication venue
'Elsevier BV'
Publication date
03/05/2018
Field of study
No full text
Genetics of disease, diagnosis and treatmen
Leiden University Scholary Publications