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Juliane Najm

Showing results (1-10 of 9) with videos related to

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Hamostaseologie|September 28, 2018
Diagnostic Single Gene Analyses Beyond SangerJuliane Najm, Matthias Rath, Winnie Schröder, et al.
Platelets|August 7, 2015
Thrombin generation in two families with MYH9-related platelet disorderEva Zetterberg, Margareta S Carlsson Alle, Juliane Najm, et al.
Neurosurgical Review|June 1, 2013
Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformationsWinnie Schröder, Juliane Najm, Stefanie Spiegler, et al.
Thrombosis and Haemostasis|January 26, 2012
A patient with Fechtner syndrome successfully treated with romiplostimStefanie Gröpper, Karin Althaus, Juliane Najm, et al.
Journal of the Neurological Sciences|July 19, 2017
Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport diseaseMatthias Rath, G Christoph Korenke, Juliane Najm, et al.
Human Molecular Genetics|August 22, 2012
The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling moduleVanessa A van Rahden, Kristina Brand, Juliane Najm, et al.
Nature Genetics|January 24, 2009
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellumJuliane Najm, Denise Horn, Isabella Wimplinger, et al.
American Journal of Human Genetics|January 9, 2008
Disruption of neurexin 1 associated with autism spectrum disorderHyung-Goo Kim, Shotaro Kishikawa, Anne W Higgins, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minorsStefanie Spiegler, Juliane Najm, Jian Liu, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Hamostaseologie|September 28, 2018
Diagnostic Single Gene Analyses Beyond SangerJuliane Najm, Matthias Rath, Winnie Schröder, et al.
Platelets|August 7, 2015
Thrombin generation in two families with MYH9-related platelet disorderEva Zetterberg, Margareta S Carlsson Alle, Juliane Najm, et al.
Neurosurgical Review|June 1, 2013
Predictive genetic testing of at-risk relatives requires analysis of all CCM genes after identification of an unclassified CCM1 variant in an individual affected with cerebral cavernous malformationsWinnie Schröder, Juliane Najm, Stefanie Spiegler, et al.
Thrombosis and Haemostasis|January 26, 2012
A patient with Fechtner syndrome successfully treated with romiplostimStefanie Gröpper, Karin Althaus, Juliane Najm, et al.
Journal of the Neurological Sciences|July 19, 2017
Exome sequencing results in identification and treatment of brain dopamine-serotonin vesicular transport diseaseMatthias Rath, G Christoph Korenke, Juliane Najm, et al.
Human Molecular Genetics|August 22, 2012
The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling moduleVanessa A van Rahden, Kristina Brand, Juliane Najm, et al.
Nature Genetics|January 24, 2009
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellumJuliane Najm, Denise Horn, Isabella Wimplinger, et al.
American Journal of Human Genetics|January 9, 2008
Disruption of neurexin 1 associated with autism spectrum disorderHyung-Goo Kim, Shotaro Kishikawa, Anne W Higgins, et al.
Molecular Genetics & Genomic Medicine|April 2, 2014
High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minorsStefanie Spiegler, Juliane Najm, Jian Liu, et al.
Pageof 1