Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

Por Rezwan, Faisal I, Poole, Rebecca L, Prescott, Trine, Walker, Joanna M, Karen Temple, I, Mackay, Deborah JG
Publicado no Eur J Hum Genet (2015)

Evidence for anticipation in Beckwith–Wiedemann syndrome

Por Berland, Siren, Appelbäck, Mia, Bruland, Ove, Beygo, Jasmin, Buiting, Karin, Mackay, Deborah J G, Karen Temple, I, Houge, Gunnar
Publicado em 2013