Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

por Ibrahim, Abdulla, Kirby, Gail, Hardy, Carol, Dias, Renuka P, Tee, Louise, Lim, Derek, Berg, Jonathan, MacDonald, Fiona, Nightingale, Peter, Maher, Eamonn R
Publicado 2014

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

por Tee, Louise, Lim, Derek HK, Dias, Renuka P, Baudement, Marie-Odile, Slater, Amy A, Kirby, Gail, Hancocks, Tom, Stewart, Helen, Hardy, Carol, Macdonald, Fiona, Maher, Eamonn R
Publicado 2013

Monogenic diabetes syndromes: Locus‐specific databases for Alström, Wolfram, and Thiamine‐responsive megaloblastic anemia

por Astuti, Dewi, Sabir, Ataf, Fulton, Piers, Zatyka, Malgorzata, Williams, Denise, Hardy, Carol, Milan, Gabriella, Favaretto, Francesca, Yu‐Wai‐Man, Patrick, Rohayem, Julia, López de Heredia, Miguel, Hershey, Tamara, Tranebjaerg, Lisbeth, Chen, Jian‐Hua, Chaussenot, Annabel, Nunes, Virginia, Marshall, Bess, McAfferty, Susan, Tillmann, Vallo, Maffei, Pietro, Paquis‐Flucklinger, Veronique, Geberhiwot, Tarekign, Mlynarski, Wojciech, Parkinson, Kay, Picard, Virginie, Bueno, Gema Esteban, Dias, Renuka, Arnold, Amy, Richens, Caitlin, Paisey, Richard, Urano, Fumihiko, Semple, Robert, Sinnott, Richard, Barrett, Timothy G.
Publicado 2017