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Florian Koch
Florian Koch
University of Hamburg
Missense mutation
Familial Hemophagocytic Lymphohistiocytosis
Mutation
Hemophagocytic lymphohistiocytosis
Immunology
4
Papers
488
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Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
2012
Blood
Julia Pagel
Karin Beutel
Kai Lehmberg
Florian Koch
Andrea Maul-Pavicic
Anna-Katharina Rohlfs
Abdullah Al-Jefri
Rita Beier
Lilian Bomme Ousager
Karoline Ehlert
Ute Gross-Wieltsch
Norbert Jorch
Bernhard Kremens
Arnulf Pekrun
Monika Sparber-Sauer
Ester Mejstrikova
Angela Wawer
Stephan Ehl
Udo zur Stadt
Gritta Janka
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Citations (111)
Functional characterisation of Munc18–2 missense mutations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
2010
Klinische Padiatrie
Florian Koch
Julia Pagel
Stephan Ehl
Gillian M. Griffiths
Hans Christian Hennies
K Beutel
Martin A. Horstmann
U zur Stadt
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STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5
2010
Journal of Medical Genetics
Valentina Cetica
Alessandra Santoro
Kimberly Gilmour
Elena Sieni
Karin Beutel
Daniela Pende
Stefania Marcenaro
Florian Koch
Samantha Grieve
Rachel D. Wheeler
Fang Zhao
Udo zur Stadt
Gillian M. Griffiths
Maurizio Aricò
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Citations (47)
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.
2009
American Journal of Human Genetics
Udo zur Stadt
Jan Rohr
Wenke Seifert
Florian Koch
Samantha Grieve
Julia Pagel
Julia Straub
Brigitte Kasper
Gudrun Nürnberg
Christian Becker
Andrea Maul-Pavicic
Karin Beutel
Gritta Janka
Gillian M. Griffiths
Stephan Ehl
Hans Christian Hennies
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Citations (330)
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