Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

Yazar: 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.
Baskı/Yayın Bilgisi 2006

Mutation of the Variant α-Tubulin TUBA8 Results in Polymicrogyria with Optic Nerve Hypoplasia

Yazar: 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
Baskı/Yayın Bilgisi 2009

Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size

Yazar: 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
Baskı/Yayın Bilgisi 2003

An SCN9A channelopathy causes congenital inability to experience pain

Yazar: 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
Yayımlandı Nature (2006)

The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis

Yazar: 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
Baskı/Yayın Bilgisi 2011

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

Yazar: 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.
Baskı/Yayın Bilgisi 2009