Canlyniadau Chwilio - Springell, Kelly

Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease gan 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.

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

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

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An SCN9A channelopathy causes congenital inability to experience pain gan 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

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The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis gan 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

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

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