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Molecular Syndromology
|
September 3, 2016
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations
Stefanie 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 malformations
Matthias 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 complex
Sonja 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 thrombocytopenia
Carlo 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 proteins
Dariush Skowronek, Robin A Pilz, Valeriia V Saenko, et al.
Developmental Cell
|
January 28, 2015
Regulation of β1 integrin-Klf2-mediated angiogenesis by CCM proteins
Marc Renz, Cécile Otten, Eva Faurobert, et al.
Plos Genetics
|
May 12, 2016
BOD1 Is Required for Cognitive Function in Humans and Drosophila
Sahar 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 minors
Stefanie 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 lymphedema
Alicia 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 Analysis
Philipp Dammann, Alejandro N Santos, Laven Mavarani, et al.
Page
of 8
Search research articles
Search
Showing results (61-70 of 71) with videos related to
Sort By:
Page
of 8
Molecular Syndromology
|
September 3, 2016
FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations
Stefanie 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 malformations
Matthias 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 complex
Sonja 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 thrombocytopenia
Carlo 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 proteins
Dariush Skowronek, Robin A Pilz, Valeriia V Saenko, et al.
Developmental Cell
|
January 28, 2015
Regulation of β1 integrin-Klf2-mediated angiogenesis by CCM proteins
Marc Renz, Cécile Otten, Eva Faurobert, et al.
Plos Genetics
|
May 12, 2016
BOD1 Is Required for Cognitive Function in Humans and Drosophila
Sahar 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 minors
Stefanie 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 lymphedema
Alicia 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 Analysis
Philipp Dammann, Alejandro N Santos, Laven Mavarani, et al.
Page
of 8