Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

por Zhang, Stella, Malik Sharif, Saghira, Chen, Ya-Chun, Valente, Enza-Maria, Ahmed, Mushtaq, Sheridan, Eamonn, Bennett, Christopher, Woods, Geoffrey
Publicado 2016

Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies

por Szymanska, Katarzyna, Berry, Ian, Logan, Clare V, Cousins, Simon RR, Lindsay, Helen, Jafri, Hussain, Raashid, Yasmin, Malik-Sharif, Saghira, Castle, Bruce, Ahmed, Mushtag, Bennett, Chris, Carlton, Ruth, Johnson, Colin A
Publicado 2012