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Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14928-x
By:
- Gibson, Joel T.;
- Sadeghi-Alavijeh, Omid;
- Gale, Daniel P.;
- Rothe, Hansjörg;
- Genomics England Research Consortium;
- Savige, Judy;
- Ambrose, J. C.;
- Arumugam, P.;
- Baple, E. L.;
- Bleda, M.;
- Boardman-Pretty, F.;
- Boissiere, J. M.;
- Boustred, C. R.;
- Brittain, H.;
- Caulfield, M. J.;
- Chan, G. C.;
- Craig, C. E. H.;
- Daugherty, L. C.;
- de Burca, A.;
- Devereau, A.
Publication type:
Article
Possible functional regression of insulinoma with prolonged octreotide.
Published in:
Postgraduate Medical Journal, 2002, v. 78, n. 924, p. 623, doi. 10.1136/pmj.78.924.623
By:
- C E H Craig
Publication type:
Article
Late diagnoses of Dravet syndrome: How many individuals are we missing?
Published in:
Epilepsia Open, 2021, v. 6, n. 4, p. 770, doi. 10.1002/epi4.12525
By:
- Silvennoinen, Katri;
- Puvirajasinghe, Clinda;
- Hudgell, Kirsty;
- Sidhu, Meneka K.;
- Martins Custodio, Helena;
- Jones, Wendy D.;
- Balestrini, Simona;
- Sisodiya, Sanjay M.;
- Ambrose, J. C.;
- Arumugam, P.;
- Baple, E. L.;
- Bleda, M.;
- Boardman‐Pretty, F.;
- Boissiere, J. M.;
- Boustred, C. R.;
- Caulfield, M. J.;
- Chan, G. C.;
- Craig, C. E. H.;
- Daugherty, L. C.;
- de Burca, A.
Publication type:
Article
Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project.
Published in:
2019
By:
- Wheway, Gabrielle;
- Mitchison, Hannah M.;
- Ambrose, J. C.;
- Baple, E. L.;
- Bleda, M.;
- Boardman-Pretty, F.;
- Boissiere, J. M.;
- Boustred, C. R.;
- Caulfield, M. J.;
- Chan, G. C.;
- Craig, C. E. H.;
- Daugherty, L. C.;
- de, Burca A.;
- Devereau, A.;
- Elgar, G.;
- Foulger, R. E.;
- Fowler, T.;
- Furió-Tarí, P.;
- Hackett, J. M.;
- Halai, D.
Publication type:
Correction Notice
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Published in:
2020
By:
- Wei, Wei;
- Pagnamenta, Alistair T.;
- Gleadall, Nicholas;
- Sanchis-Juan, Alba;
- Stephens, Jonathan;
- Broxholme, John;
- Tuna, Salih;
- Odhams, Christopher A.;
- Genomics England Research Consortium;
- Ambrose, J. C.;
- Baple, E. L.;
- Bleda, M.;
- Boardman-Pretty, F.;
- Boissiere, J. M.;
- Boustred, C. R.;
- Caulfield, M. J.;
- Chan, G. C.;
- Craig, C. E. H.;
- Daugherty, L. C.;
- de Burca, A.
Publication type:
Correction Notice
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15336-3
By:
- Wei, Wei;
- Pagnamenta, Alistair T.;
- Gleadall, Nicholas;
- Sanchis-Juan, Alba;
- Stephens, Jonathan;
- Broxholme, John;
- Tuna, Salih;
- Odhams, Christopher A.;
- Genomics England Research Consortium;
- Ambrose, J. C.;
- Baple, E. L.;
- Bleda, M.;
- Boardman-Pretty, F.;
- Boissiere, J. M.;
- Boustred, C. R.;
- Caulfield, M. J.;
- Chan, G. C.;
- Craig, C. E. H.;
- Daugherty, L. C.;
- de Burca, A.
Publication type:
Article

Found: 6

Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome.

Possible functional regression of insulinoma with prolonged octreotide.

Late diagnoses of Dravet syndrome: How many individuals are we missing?

Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project.

Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.