(Q52321062)
Statements
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. (English)
1 reference
Han G Brunner
1 reference
Annapurna Poduri
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Delphine Heron
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Klaas J Wierenga
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Ange-Line Bruel
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Margot R F Reijnders
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Janneke Schuurs-Hoeijmakers
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Erik-Jan Kamsteeg
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Heather E Olson
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Nolwenn Jean-Marçais
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Edward Yang
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Katrina Tatton-Brown
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Paul A van der Zwaag
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Emilia K Bijlsma
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Bryan L Krock
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E Backer
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Margje Sinnema
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David Bearden
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Amber Begtrup
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Aida Telegrafi
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Roelineke J Lunsing
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Lydie Burglen
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Gaetan Lesca
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Megan T Cho
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Lacey A Smith
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Beth R Sheidley
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Christelle Moufawad El Achkar
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Phillip L Pearl
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Cara M Skraban
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Jennifer Tarpinian
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Addie I Nesbitt
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Dietje E Fransen van de Putte
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Claudia A L Ruivenkamp
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Patrick Rump
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Nicolas Chatron
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Isabelle Sabatier
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Julitta De Bellescize
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Laurent Guibaud
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Jessica L Waxler
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DDD Study
1 reference
Jean Donadieu
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Vinodh Narayanan
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Keri M Ramsey
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C4RCD Research Group
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Caroline Nava
1 reference
Jean-Baptiste Rivière
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Frédéric Tran Mau-Them
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Christophe Philippe
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Yannis Duffourd
1 reference
Laurel Thomas
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Stefan H Lelieveld
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Boris Keren
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Julien Thevenon
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Laurence Faivre
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Gary Thomas
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Christel Thauvin-Robinet
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10 April 2018
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