Associated Papers
Recurrent somatic copy number alterations in resected cerebral cavernous malformations.
Ressler AK et al.
Human Genomics, 2025
41366709 (PubMed )
Supplement: 40246_2025_886_MOESM1_ESM.xlsx › Extended_Data_Table_4
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Kitayama K et al.
Bmc Medical Genomics, 2021
Hereditary hemorrhagic telangiectasia in Japanese patients.
Komiyama M et al.
Journal of Human Genetics, 2014
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.
McDonald J et al.
The Journal of Molecular Diagnostics : Jmd, 2009
Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.
Gedge F et al.
The Journal of Molecular Diagnostics : Jmd, 2007
Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.
Prigoda NL et al.
Journal of Medical Genetics, 2006
Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.
Abdalla SA et al.
Journal of Medical Genetics, 2006
Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.
Letteboer TG et al.
Human Genetics, 2005
Select a paper to view details