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Ute Felbor

Showing results (61-70 of 71) with videos related to

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Molecular Syndromology|September 3, 2016
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous MalformationsStefanie Spiegler, Bettina Kirchmaier, Matthias Rath, et al.
Molecular Genetics & Genomic Medicine|January 25, 2017
Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformationsMatthias Rath, Stefanie Spiegler, Neetika Nath, et al.
Human Mutation|February 27, 2008
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complexSonja Stahl, Sabine Gaetzner, Katrin Voss, et al.
Journal of Thrombosis and Haemostasis : JTH|December 16, 2023
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopeniaCarlo Zaninetti, Jose' Rivera, Leonard Vater, et al.
Angiogenesis|June 6, 2025
High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteinsDariush Skowronek, Robin A Pilz, Valeriia V Saenko, et al.
Developmental Cell|January 28, 2015
Regulation of β1 integrin-Klf2-mediated angiogenesis by CCM proteinsMarc Renz, Cécile Otten, Eva Faurobert, et al.
Plos Genetics|May 12, 2016
BOD1 Is Required for Cognitive Function in Humans and DrosophilaSahar Esmaeeli-Nieh, Michaela Fenckova, Iain M Porter, 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.
Science Translational Medicine|March 2, 2022
Pathogenic variants in <i>MDFIC</i> cause recessive central conducting lymphatic anomaly with lymphedemaAlicia B Byrne, Pascal Brouillard, Drew L Sutton, et al.
Neurology|July 10, 2025
Lifetime Risk of First Symptomatic ICH or Seizure in Familial Cerebral Cavernous Malformations: A Multicenter Patient Data AnalysisPhilipp Dammann, Alejandro N Santos, Laven Mavarani, et al.
Pageof 8

Showing results (61-70 of 71) with videos related to

Sort By:
Pageof 8
Molecular Syndromology|September 3, 2016
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous MalformationsStefanie Spiegler, Bettina Kirchmaier, Matthias Rath, et al.
Molecular Genetics & Genomic Medicine|January 25, 2017
Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformationsMatthias Rath, Stefanie Spiegler, Neetika Nath, et al.
Human Mutation|February 27, 2008
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complexSonja Stahl, Sabine Gaetzner, Katrin Voss, et al.
Journal of Thrombosis and Haemostasis : JTH|December 16, 2023
Aggregates of nonmuscular myosin IIA in erythrocytes associate with GATA1- and GFI1B-related thrombocytopeniaCarlo Zaninetti, Jose' Rivera, Leonard Vater, et al.
Angiogenesis|June 6, 2025
High-throughput differentiation of human blood vessel organoids reveals overlapping and distinct functions of the cerebral cavernous malformation proteinsDariush Skowronek, Robin A Pilz, Valeriia V Saenko, et al.
Developmental Cell|January 28, 2015
Regulation of β1 integrin-Klf2-mediated angiogenesis by CCM proteinsMarc Renz, Cécile Otten, Eva Faurobert, et al.
Plos Genetics|May 12, 2016
BOD1 Is Required for Cognitive Function in Humans and DrosophilaSahar Esmaeeli-Nieh, Michaela Fenckova, Iain M Porter, 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.
Science Translational Medicine|March 2, 2022
Pathogenic variants in <i>MDFIC</i> cause recessive central conducting lymphatic anomaly with lymphedemaAlicia B Byrne, Pascal Brouillard, Drew L Sutton, et al.
Neurology|July 10, 2025
Lifetime Risk of First Symptomatic ICH or Seizure in Familial Cerebral Cavernous Malformations: A Multicenter Patient Data AnalysisPhilipp Dammann, Alejandro N Santos, Laven Mavarani, et al.
Pageof 8