GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects Journal Articles Refereed uri icon

Overview

Authors

  • Authorship

    • PLATZER K
    • TANG S
    • WILLING MC
    • TINKLE BT
    • ADAMS DJ
    • DEPIENNE C
    • KEREN B
    • MIGNOT C
    • FRENGEN E
    • STROMME P
    • BISKUP S
    • YUAN H
    • DOECKER D
    • STROM TM
    • MEFFORD HC
    • MYERS CT
    • MUIR AM
    • LACROIX A
    • SADLEIR L
    • PROF Ingrid Scheffer
    • BRILSTRA E
    • VAN HAELST MM
    • SCHUETZ H
    • VAN DER SMAGT JJ
    • BOK LA
    • MOLLER RS
    • JENSEN UB
    • MILLICHAP JJ
    • BERG AT
    • GOLDBERG EM
    • DE BIE I
    • FOX S
    • MAJOR P
    • WINSCHEL A
    • JONES JR
    • ZACKAI EH
    • ABOU JAMRA R
    • ROLFS A
    • A/PROF Rick Leventer
    • LAWSON JA
    • ROSCIOLI T
    • JANSEN FE
    • RANZA E
    • KORFF CM
    • CHEN W
    • LEHESJOKI A-E
    • COURAGE C
    • LINNANKIVI T
    • SMITH DR
    • STANLEY C
    • MINTZ M
    • MCKNIGHT D
    • DECKER A
    • TAN W-H
    • TARNOPOLSKY MA
    • HU C
    • BRADY LI
    • WOLFF M
    • DONDIT L
    • PEDRO HF
    • PARISOTTO SE
    • JONES KL
    • PATEL AD
    • FRANZ DN
    • VANZO R
    • MARCO E
    • KUSUMOTO H
    • RANELLS JD
    • DI DONATO N
    • DOBYNS WB
    • LAUBE B
    • TRAYNELIS SF
    • LEMKE JR
    • HEYNE HO
    • HELBIG KL

Published in

  • Journal of Medical Genetics

Time

Date/time value

  • 2017

Identity

Digital Object Identifier (DOI)

  • 10.1136/jmedgenet-2016-104509

Additional Document Info

Parent Title

  • JOURNAL OF MEDICAL GENETICS

Volume

  • 54

Issue

  • 7

Publisher

  • BMJ Publishing Group