Resultados de procura - Springell, Kelly

Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease por Woods, C. Geoffrey, Cox, James, Springell, Kelly, Hampshire, Daniel J., Mohamed, Moin D., McKibbin, Martin, Stern, Rowena, Raymond, F. Lucy, Sandford, Richard, Malik Sharif, Saghira, Karbani, Gulshan, Ahmed, Mustaq, Bond, Jacquelyn, Clayton, David, Inglehearn, Chris F.

Ligazón do recurso Ligazón do recurso

Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia por Abdollahi, Mohammad R., Morrison, Ewan, Sirey, Tamara, Molnar, Zoltan, Hayward, Bruce E., Carr, Ian M., Springell, Kelly, Woods, C. Geoff, Ahmed, Mushtaq, Hattingh, Louise, Corry, Peter, Pilz, Daniela T., Stoodley, Neil, Crow, Yanick, Taylor, Graham R., Bonthron, David T., Sheridan, Eamonn

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size por Bond, Jacquelyn, Scott, Sheila, Hampshire, Daniel J., Springell, Kelly, Corry, Peter, Abramowicz, Marc J., Mochida, Ganesh H., Hennekam, Raoul C. M., Maher, Eamonn R., Fryns, Jean-Pierre, Alswaid, Abdulrahman, Jafri, Hussain, Rashid, Yasmin, Mubaidin, Ammar, Walsh, Christopher A., Roberts, Emma, Woods, C. Geoffrey

Ligazón do recurso Ligazón do recurso

An SCN9A channelopathy causes congenital inability to experience pain por Cox, James J., Reimann, Frank, Nicholas, Adeline K., Thornton, Gemma, Roberts, Emma, Springell, Kelly, Karbani, Gulshan, Jafri, Hussain, Mannan, Jovaria, Raashid, Yasmin, Al-Gazali, Lihadh, Hamamy, Henan, Valente, Enza Maria, Gorman, Shaun, Williams, Richard, McHale, Duncan P., Wood, John N., Gribble, Fiona M., Woods, C. Geoffrey

Ligazón do recurso Ligazón do recurso Ligazón do recurso

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis por Bakircioglu, Mehmet, Carvalho, Ofélia P., Khurshid, Maryam, Cox, James J., Tuysuz, Beyhan, Barak, Tanyeri, Yilmaz, Saliha, Caglayan, Okay, Dincer, Alp, Nicholas, Adeline K., Quarrell, Oliver, Springell, Kelly, Karbani, Gulshan, Malik, Saghira, Gannon, Caroline, Sheridan, Eamonn, Crosier, Moira, Lisgo, Steve N., Lindsay, Susan, Bilguvar, Kaya, Gergely, Fanni, Gunel, Murat, Woods, C. Geoffrey

Ligazón do recurso Ligazón do recurso Ligazón do recurso

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice por Parry, David A., Toomes, Carmel, Bida, Lina, Danciger, Michael, Towns, Katherine V., McKibbin, Martin, Jacobson, Samuel G., Logan, Clare V., Ali, Manir, Bond, Jacquelyn, Chance, Rebecca, Swendeman, Steven, Daniele, Lauren L., Springell, Kelly, Adams, Matthew, Johnson, Colin A., Booth, Adam P., Jafri, Hussain, Rashid, Yasmin, Banin, Eyal, Strom, Tim M., Farber, Debora B., Sharon, Dror, Blobel, Carl P., Pugh, Edward N., Pierce, Eric A., Inglehearn, Chris F.

Ligazón do recurso Ligazón do recurso Ligazón do recurso