Bilaketaren emaitzak - Lorraine Gaunt
- Erakusten 1 - 5 emaitzak -- 5
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1
Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. nork Anne Slavotinek, Lorraine Gaunt, Dian Donnai
Argitaratua 1997Revisão -
2
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech nork Julien Thévenon, Patrick Callier, Joris Andrieux, Bruno Delobel, Albert David, Sylvie Sukno, Delphine Minot, Laure Mosca Anne, Nathalie Marle, Damien Sanlaville, Marlène Bonnet, Alice Masurel‐Paulet, Fabienne Levy, Lorraine Gaunt, Sandra A. Farrell, Cédric Le Caignec, Annick Toutain, Virginie Carmignac, Francine Mugneret, Jill Clayton‐Smith, Christel Thauvin‐Robinet, Laurence Faivre
Argitaratua 2012Artigo -
3
Constitutional and somatic rearrangement of chromosome 21 in acute lymphoblastic leukaemia nork Yilong Li, Claire Schwab, Sarra L. Ryan, Elli Papaemmanuil, Hazel M. Robinson, Patricia A. Jacobs, Anthony V. Moorman, Sara Dyer, Julian Borrow, Mike Griffiths, Nyla A. Heerema, Andrew J. Carroll, Polly Talley, Nick Bown, Nick Telford, Fiona M. Ross, Lorraine Gaunt, Richard McNally, Bryan D. Young, Paul Sinclair, Vikki Rand, Manuel R. Teixeira, Olivia Joseph, Ben Robinson, Mark Maddison, Nicole Dastugue, Peter Vandenberghe, Claudia Haferlach, Philip J. Stephens, Jie Cheng, Peter Van Loo, Michael R. Stratton, Peter J. Campbell, Christine J. Harrison
Argitaratua 2014Artigo -
4
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes nork Heather C. Mefford, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv Maloney, John A. Crolla, Diana Baralle, Amanda Collins, Catherine Mercer, Koen Norga, Thomy de Ravel, Koenraad Devriendt, Ernie M.H.F. Bongers, Nicole de Leeuw, William Reardon, Stefania Gimelli, Frédérique Béna, Raoul C. M. Hennekam, Alison Male, Lorraine Gaunt, Jill Clayton‐Smith, Ingrid Simonic, Soo Mi Park, Sarju Mehta, Serena Nik‐Zainal, C. Geoffrey Woods, Helen V. Firth, Georgina Parkin, Marco Fichera, S Reitano, Mariangela Lo Giudice, Kelly E. Li, Iris Casuga, Adam Broomer, Bernard Conrad, Markus Schwerzmann, Lorenz Räber, Sabina Gallati, Pasquale Striano, Antonietta Coppola, John Tolmie, Edward S. Tobias, Chris J. Lilley, Lluı́s Armengol, Yves Spysschaert, Patrick Verloo, Anja De Coene, Linde Goossens, Geert Mortier, Frank Speleman, Ellen van Binsbergen, Marcel Nelen, Ron Hochstenbach, Martin Poot, Louise Gallagher, Michael Gill, Jon McClellan, Mary‐Claire King, Regina Regan, Cindy Skinner, Roger E. Stevenson, Stylianos E. Antonarakis, Caifu Chen, Xavier Estivill, Björn Menten, Giorgio Gimelli, Susan Gribble, Stuart Schwartz, James S. Sutcliffe, Tom Walsh, Samantha J.L. Knight, Jonathan Sebat, Corrado Romano, Charles E. Schwartz, Joris A. Veltman, Bert B.A. de Vries, Joris Vermeesch, John Barber, Lionel Willatt, May Tassabehji, Evan E. Eichler
Argitaratua 2008Artigo -
5
Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders Study nork Jeremy F. McRae, Stephen Clayton, Tomas Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel A. King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner‐Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton‐Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick J. Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan H. de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis E. Duncan, Jacqueline Eason, Sian Ellard, Ian O. Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, AndrewW Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali
Argitaratua 2016Pré-impressão
Bilaketa egiteko lanabesak:
Antzeko gaiak
Biology
Gene
Genetics
Medicine
Chromosome
Gene duplication
Phenotype
Chromosomal translocation
Derivative chromosome
Environmental health
Intellectual disability
Karyotype
Pathology
Population
Speech delay
Autism
Beckwith–Wiedemann syndrome
Bloom syndrome
Cataracts
Chromosomal rearrangement
Chromosome 15
Chromosome 18
Chromosome 21
Chromothripsis
Context (archaeology)
DNA
DNA damage
DNA methylation
Dicentric chromosome
Disease