Autoreductive glazes : a systematic practical exploration

Autor: Slade, Richard

Externí odkaz: http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.425297

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

Autor: Balachandar, Srimmitha, Graves, Tamara J, Shimonty, Anika, Kerr, Katie, Kilner, Jill, Xiao, Sihao, Slade, Richard, Sroya, Manveer, Alikian, Mary, Curetean, Emanuel, Thomas, Ellen, McConnell, Vivienne, McKee, Shane, Boardman-Pretty, Freya, Devereau, Andrew, Fowler, Tom A, Caulfield, Mark J, Alton, Eric W, Ferguson, Teena, Redhead, Julian, McKnight, Amy J., Thomas, Geraldine A, Research Consortium, Genomics England, Aldred, Micheala A, Shovlin, Claire L

Publikováno v: Balachandar, S, Graves, T J, Shimonty, A, Kerr, K, Kilner, J, Xiao, S, Slade, R, Sroya, M, Alikian, M, Curetean, E, Thomas, E, McConnell, V, McKee, S, Boardman-Pretty, F, Devereau, A, Fowler, T A, Caulfield, M J, Alton, E W, Ferguson, T, Redhead, J, McKnight, A J, Thomas, G A, Research Consortium, G E, Aldred, M A & Shovlin, C L 2022, ' Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations ', American Journal of Medical Genetics A, vol. 188, no. 3, pp. 959-964 . https://doi.org/10.1002/ajmg.a.62584

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular dysplasia, characterized by arteriovenous malformations (AVMs), mucocutaneous telangiectasia and nosebleeds. HHT is caused by a heterozygous null allele in AC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2607::9ba662d2a30f6a66ae792b6d17757213
https://pure.qub.ac.uk/en/publications/b57c8db3-e414-4c81-802f-d796d520de2e

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

Autor: Balachandar, Srimmitha, Graves, Tamara J., Shimonty, Anika, Kerr, Katie, Kilner, Jill, Xiao, Sihao, Slade, Richard, Sroya, Manveer, Alikian, Mary, Curetean, Emanuel, Thomas, Ellen, McConnell, Vivienne P. M., McKee, Shane, Boardman-Pretty, Freya, Devereau, Andrew, Fowler, Tom A., Caulfield, Mark J., Alton, Eric W., Ferguson, Teena, Redhead, Julian, McKnight, Amy J., Thomas, Geraldine A., Aldred, Micheala A., Shovlin, Claire L.

Publikováno v: Am J Med Genet A

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular dysplasia, characterized by arteriovenous malformations (AVMs), mucocutaneous telangiectasia and nosebleeds. HHT is caused by a heterozygous null allele in AC

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ea715bc166054a932b66a637ba4c1241
http://hdl.handle.net/10044/1/93519

The accuracy of the sentinel node procedure after excision biopsy in squamous cell carcinoma of the vulva

Autor: Crosbie, Emma J., Winter-Roach, Brett, Sengupta, Partha, Sikand, Kanwal A., Carrington, Bernadette, Murby, Brian, Slade, Richard J.

Publikováno v: In Surgical Oncology 2010 19(4):e150-e154

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