Two novel SCN9A mutations causing insensitivity to pain von Nilsen, K.B., Nicholas, A.K., Woods, C.G., Mellgren, S.I., Nebuchennykh, M., Aasly, J.

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The molecular landscape of ASPM mutations in primary microcephaly von Nicholas, A K, Swanson, E A, Cox, J J, Karbani, G, Malik, S, Springell, K, Hampshire, D, Ahmed, M, Bond, J, Di Benedetto, D, Fichera, M, Romano, C, Dobyns, W B, Woods, C G

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Mutations in WNT7A Cause a Range of Limb Malformations, Including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel Phocomelia Syndrome von Woods, C.G., Stricker, S., Seemann, P., Stern, R., Cox, J., Sherridan, E., Roberts, E., Springell, K., Scott, S., Karbani, G., Sharif, S.M., Toomes, C., Bond, J., Kumar, D., Al-Gazali, L., Mundlos, S.

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ASPM mutations identified in patients with primary microcephaly and seizures von Shen, J, Eyaid, W, Mochida, G H, Al-Moayyad, F, Bodell, A, Woods, C G, Walsh, C A

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Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation von Roberts, E, Hampshire, D J, Pattison, L, Springell, K, Jafri, H, Corry, P, Mannon, J, Rashid, Y, Crow, Y, Bond, J, Woods, C G

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Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism von Crow, Y J, Black, D N, Ali, M, Bond, J, Jackson, A P, Lefson, M, Michaud, J, Roberts, E, Stephenson, J B P, Woods, C G, Lebon, P

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Microcephaly von Woods, C.G., Basto, R.

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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis von James, Jacqueline, Davies, Robin, Read, Andrew P, Roberts, Emma, Woods, C. Geoffrey, Wood, A. Joseph, McCormick, Derek, Hewitt, Chelsee, Ghaffar, Khaled Abdul, Thakker, Nalin S, Widmer, Richard, Wong, Melanie, Sloan, Philip, Lench, Nicholas, Hussein, Ibtessam Ramzy, Pemberton, Michael, Dixon, Michael J, Markham, Alexander, Temtamy, Samia A, Wu, Chu Lee, Toomes, Carmel, Moynihan, Leanne

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Bilateral generalized polymicrogyria (BGP): A distinct syndrome of cortical malformation von CHANG, B. S, PIAO, X, BARKOVICH, A. J, GRANT, P. E, WALSH, C. A, GIANNINI, C, CASCINO, G. D, SCHEFFER, I, WOODS, C. G, TOPCU, M, TEZCAN, K, BODELL, A, LEVENTER, R. J

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Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome von Holden, S T, Cox, J J, Kesterton, I, Thomas, N S, Carr, C, Woods, C G

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Autosomal Recessive Primary Microcephaly (MCPH): A Review of Clinical, Molecular, and Evolutionary Findings von Woods, C. Geoffrey, Bond, Jacquelyn, Enard, Wolfgang

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A new method for autozygosity mapping using single nucleotide polymorphisms (SNPs) and ExcludeAR von Woods, C G, Valente, E M, Bond, J, Roberts, E

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Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36 von Hampshire, Daniel J, Roberts, Emma, Crow, Yanick, Bond, Jacquelyn, Mubaidin, Ammar, Wriekat, Abdul-Latif, Al-Din, Amir, Woods, C Geoffrey

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Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum von Mubaidin, A, Roberts, E, Hampshire, D, Dehyyat, M, Shurbaji, A, Mubaidien, M, Jamil, A, Al-Din, A, Kurdi, A, Woods, C G

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Human NDE1 splicing and mammalian brain development von Mosca, S., Raponi, M., Meneghello, A., Buratti, E., Woods, C. G., Baralle, D.

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A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2 von Leal, G F, Roberts, E, Silva, E O, Costa, S M R, Hampshire, D J, Woods, C G

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The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy von Bond, J, Flintoff, K, Higgins, J, Scott, S, Bennet, C, Parsons, J, Mannon, J, Jafri, H, Rashid, Y, Barrow, M, Trembath, R, Woodruff, G, Rossa, E, Lynch, S, Sheilds, J, Newbury-Ecob, R, Falconer, A, Holland, P, Cockburn, D, Karbani, G, Malik, S, Ahmed, M, Roberts, E, Taylor, G, Woods, C G

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A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy von Carvalho, Ofélia P, Thornton, Gemma K, Hertecant, Joseph, Houlden, Henry, Nicholas, Adeline K, Cox, James J, Rielly, Mary, Al-Gazali, Lihadh, Woods, C Geoffrey

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A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome von Jeggo, Penny A, O'Driscoll, Mark, Ruiz-Perez, Victor L, Woods, C. Geoffrey, Goodship, Judith A

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Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia von INSKIP, H. M, KINLEN, L. J, TAYLOR, A. M. R, WOODS, C. G, ARLETT, C. F

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