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Author/Creator Bok, Levinus A

2. GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Issue 7 (4th April 2017)

Authors:
Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O; Helbig, Katherine L; Tang, Sha; Willing, Marcia C; Tinkle, Brad T; Adams, Darius J; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter;...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 7(2017)
Page Start:
460
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. Issue 2 (2nd November 2017)

Authors:
Reijnders, Margot R F; Janowski, Robert; Alvi, Mohsan; Self, Jay E; van Essen, Ton J; Vreeburg, Maaike; Rouhl, Rob P W; Stevens, Servi J C; Stegmann, Alexander P A; Schieving, Jolanda; Pfundt, Rolph; van Dijk, Katinke; Smeets, Eric; Stumpel, Connie T R M; Bok, Levinus A; Cobben, Jan Maarten; Enge...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 2(2018)
Page Start:
104
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening. (11th April 2022)

Authors:
Tseng, Laura A; Engelke, Udo F H; Huigen, Marleen C D G; Kluijtmans, Leo A J; Haaxma, Charlotte A; Koolen, David A; Bok, Levinus A; Wright, Jason N; Gospe, Sidney M; Janssen, Mirian C H; van Karnebeek, Clara D M; Coene, Karlien L M
Journal:
Clinical chemistry
Issue:
Volume 68:Number 5(2022)
Page Start:
732
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗