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IS THE 'SCHOOL INCLUSION MODEL' A PATHWAY TO INCLUSION IN IRISH SCHOOLS?
Published in:
Reach, 2023, v. 36, n. 1, p. 61
By:
- GARDINER, CAROL
Publication type:
Article
Characterization of renal cell carcinoma‐associated constitutional chromosome abnormalities by genome sequencing.
Published in:
Genes, Chromosomes & Cancer, 2020, v. 59, n. 6, p. 333, doi. 10.1002/gcc.22833
By:
- Smith, Philip S.;
- Whitworth, James;
- West, Hannah;
- Cook, Jacqueline;
- Gardiner, Carol;
- Lim, Derek H. K.;
- Morrison, Patrick J.;
- Hislop, R. Gordon;
- Murray, Emily;
- Tischkowitz, Marc;
- Warren, Anne Y.;
- Woodward, Emma R.;
- Maher, Eamonn R.
Publication type:
Article
Prenatal and pre‐implantation genetic testing for monogenic disorders for germline cancer susceptibility gene variants: UK joint consensus guidance.
Published in:
BJOG: An International Journal of Obstetrics & Gynaecology, 2023, v. 130, n. 13, p. 1563, doi. 10.1111/1471-0528.17571
By:
- Wafik, Mohamed;
- Kilby, Mark David;
- Kulkarni, Anjana;
- McEwan, Alec;
- Hall, Alison;
- Taylor, Amy;
- Gardiner, Carol;
- Tomlinson, Charlotte;
- Kilby, Mark;
- Rakhra, Rhianna;
- Ashraf, Tazeen
Publication type:
Article
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 3, p. 519, doi. 10.1093/hmg/ddw409
By:
- Evers, Jochem M. G.;
- Laskowski, Roman A.;
- Bertolli, Marta;
- Clayton-Smith, Jill;
- Deshpande, Charu;
- Eason, Jacqueline;
- Elmslie, Frances;
- Flinter, Frances;
- Gardiner, Carol;
- Hurst, Jane A.;
- Kingston, Helen;
- Kini, Usha;
- Lampe, Anne K.;
- Derek Lim;
- Male, Alison;
- Naik, Swati;
- Parker, Michael J.;
- Price, Sue;
- Robert, Leema;
- Sarkar, Ajoy
Publication type:
Article
Pedal oedema in a newborn male.
Published in:
Infant, 2014, v. 10, n. 5, p. 164
By:
- Mitchell, Jennifer;
- Manjunatha, Chikkanayakanahalli;
- Ibhanesebhor, Samuel;
- Gardiner, Carol;
- Paterson, Lindsay
Publication type:
Article
Prenatal chromosome microarray: 'The UK experience'. A survey of reporting practices in UK genetic services (2012–2019).
Published in:
Prenatal Diagnosis, 2021, v. 41, n. 6, p. 661, doi. 10.1002/pd.5944
By:
- Patterson, Jenny;
- Wellesley, Diana;
- Morgan, Sian;
- Cilliers, Deirdre;
- Allen, Stephanie;
- Gardiner, Carol A
Publication type:
Article
Prenatal chromosome microarray: 'The UK experience'. A survey of reporting practices in UK genetic services (2012-2019).
Published in:
2021
By:
- Patterson, Jenny;
- Wellesley, Diana;
- Morgan, Sian;
- Cilliers, Deirdre;
- Allen, Stephanie;
- Gardiner, Carol A;
- Fetal Genomics Steering Group;
- UK Clinical Genetics Lead Clinician Group;
- UK Heads of Genetics Laboratory Group
Publication type:
journal article
Long‐read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel–Gruber syndrome.
Published in:
Human Mutation, 2020, v. 41, n. 2, p. 525, doi. 10.1002/humu.23940
By:
- Watson, Christopher M.;
- Dean, Philip;
- Camm, Nick;
- Bates, Jennifer;
- Carr, Ian M.;
- Gardiner, Carol A.;
- Bonthron, David T.
Publication type:
Article

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