4 results for author:"Stoodley N." in Literature citations
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| Childhood presentation of COL4A1 mutations. Shah S., Ellard S., Kneen R., Lim M., Osborne N., Rankin J., Stoodley N., van der Knaap M., Whitney A., Jardine P. Dev Med Child Neurol 54:569-574(2012) · Mapped (5) |
| Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Abdollahi M.R., Morrison E., Sirey T., Molnar Z., Hayward B.E., Carr I.M., Springell K., Woods C.G., Ahmed M., Hattingh L. et al. Am. J. Hum. Genet. 85:737-744(2009) · UniProtKB (2) · Mapped (1) |
| A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly. Shah S., Kumar Y., McLean B., Churchill A., Stoodley N., Rankin J., Rizzu P., van der Knaap M., Jardine P. Eur. J. Paediatr. Neurol. 14:182-187(2010) · UniProtKB (1) · Mapped (4) |
| Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Aligianis I.A., Morgan N.V., Mione M., Johnson C.A., Rosser E., Hennekam R.C.M., Adams G., Trembath R.C., Pilz D.T., Stoodley N. et al. Am. J. Hum. Genet. 78:702-707(2006) · UniProtKB (1) |