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2 research outputs found
A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene
Author
Coebergh J.A.
Haeringen A. van
+4Â more
Putte D.E.F. van de
Ruivenkamp C.
Smit L.M.
Snoeck I.N.
Publication venue
'Elsevier BV'
Publication date
01/05/2014
Field of study
No full text
Genetics of disease, diagnosis and treatmen
Crossref
Leiden University Scholary Publications
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