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Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)
Authors: Knoblauch, Hans; Tennstedt, Cornelia; Brueck, Wolfgang; Hammer, Hannes; Vulliamy, Tom; Dokal, Inderjeet; Lehmann, RĂ¼diger; Hanefeld, Folker; Tinschert, Sigrid
Date of Publication (YYYY-MM-DD): 2003-07
Title of Journal: American Journal of Medical Genetics
Volume: 120A
Issue / Number: 2
Start Page: 261
End Page: 265
Document Type: Article
ID: 178164.0

Novel GLRA1 Missense Mutation (P250T) in Dominant Hyperekplexia Defines an Intracellular Determinant of Glycine Receptor Channel Gating
Authors: Saul, Brigitta; Kuner, Thomas; Sobetzko, Diana; Brune, Wolfram; Hanefeld, Folker; Meinck, Hans-Michael; Becker, Cord-Michael
Date of Publication (YYYY-MM-DD): 1999-02
Title of Journal: Journal of Neuroscience
Volume: 19
Issue / Number: 3
Start Page: 869
End Page: 877
Document Type: Article
ID: 22663.0