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Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons-Bianchi syndrome?
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2762, doi. 10.1002/ajmg.a.34188
By:
- Ferguson, John S.;
- Gunatheesan, Shymalar;
- Brice, Glen;
- Hastings, Rob;
- Newbury-Ecob, Ruth;
- Mortimer, Peter S.;
- Mansour, Sahar
Publication type:
Article
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
Published in:
Nature Genetics, 2011, v. 43, n. 8, p. 729, doi. 10.1038/ng.868
By:
- Hoischen, Alexander;
- van Bon, Bregje W. M.;
- Rodríguez-Santiago, Benjamín;
- Gilissen, Christian;
- Vissers, Lisenka E. L. M.;
- de Vries, Petra;
- Janssen, Irene;
- van Lier, Bart;
- Hastings, Rob;
- Smithson, Sarah F.;
- Newbury-Ecob, Ruth;
- Kjaergaard, Susanne;
- Goodship, Judith;
- McGowan, Ruth;
- Bartholdi, Deborah;
- Rauch, Anita;
- Peippo, Maarit;
- Cobben, Jan M.;
- Wieczorek, Dagmar;
- Gillessen-Kaesbach, Gabriele
Publication type:
Article
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 5, p. 513, doi. 10.1038/ejhg.2010.234
By:
- Hastings, Rob;
- Cobben, Jan-Maarten;
- Gillessen-Kaesbach, Gabriele;
- Goodship, Judith;
- Hove, Hanne;
- Kjaergaard, Susanne;
- Kemp, Helena;
- Kingston, Helen;
- Lunt, Peter;
- Mansour, Sahar;
- McGowan, Ruth;
- Metcalfe, Kay;
- Murdoch-Davis, Catherine;
- Ray, Mary;
- Rio, Marlène;
- Smithson, Sarah;
- Tolmie, John;
- Turnpenny, Peter;
- van Bon, Bregje;
- Wieczorek, Dagmar
Publication type:
Article
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Published in:
Brain: A Journal of Neurology, 2013, v. 136, n. 10, p. 3106, doi. 10.1093/brain/awt236
By:
- Németh, Andrea H.;
- Kwasniewska, Alexandra C.;
- Lise, Stefano;
- Parolin Schnekenberg, Ricardo;
- Becker, Esther B. E.;
- Bera, Katarzyna D.;
- Shanks, Morag E.;
- Gregory, Lorna;
- Buck, David;
- Zameel Cader, M.;
- Talbot, Kevin;
- de Silva, Rajith;
- Fletcher, Nicholas;
- Hastings, Rob;
- Jayawant, Sandeep;
- Morrison, Patrick J.;
- Worth, Paul;
- Taylor, Malcolm;
- Tolmie, John;
- O’Regan, Mary
Publication type:
Article
Pulling the Strands Together: MEGA Steps to Drive European Genomics and Personalised Medicine.
Published in:
Biomedicine Hub, 2017, v. 2, p. 169, doi. 10.1159/000481300
By:
- Horgan, Denis;
- Romao, Mario;
- Hastings, Rob
Publication type:
Article
A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma.
Published in:
Genes, Chromosomes & Cancer, 2010, v. 49, n. 10, p. 967, doi. 10.1002/gcc.20800
By:
- Hastings, Rob;
- Newbury-Ecob, Ruth;
- Ng, Antony;
- Taylor, Rohan
Publication type:
Article

Found: 6

Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons-Bianchi syndrome?

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

Pulling the Strands Together: MEGA Steps to Drive European Genomics and Personalised Medicine.

A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma.