Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2 , in perisylvian polymicrogyria: a next-generation sequencing study
Mirzaa, Ghayda M, Dr, Conti, Valerio, PhD, Timms, Andrew E, PhD, Smyser, Christopher D, MD, Ahmed, Sarah, MD, Carter, Melissa, MD, Barnett, Sarah, MS, Hufnagel, Robert B, MD, Goldstein, Amy, MD, Narumi-Kishimoto, Yoko, MD, Olds, Carissa, MSc, Collins, Sarah, MS, Johnston, Kathreen, MD, Deleuze, Jean-François, PhD, Nitschké, Patrick, PhD, Friend, Kathryn, PhD, Harris, Catharine, MD, Goetsch, Allison, MS, Martin, Beth, BS, Boyle, Evan August, BS, Parrini, Elena, MD, Mei, Davide, MSLT, Tattini, Lorenzo, PhD, Slavotinek, Anne, Prof, Blair, Ed, MRCP, Barnett, Christopher, MBBS, Shendure, Jay, Prof, Chelly, Jamel, Prof, Dobyns, William B, Prof, Guerrini, Renzo, Prof
Published in Lancet neurology (01.12.2015)
Published in Lancet neurology (01.12.2015)
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8q13.1-q13.2 Deletion Associated With Inferior Cerebellar Vermian Hypoplasia and Digital Anomalies: A New Syndrome?
Mordaunt, Dylan, MB, ChB, Oftedal, Bergithe E., PhD, McLauchlan, Alisha, BSc(hons), Coates, Danika, MBBS, Waters, Wendy, BMedLabSc, Scott, Hamish, PhD, Barnett, Christopher, MBBS
Published in Pediatric neurology (01.02.2015)
Published in Pediatric neurology (01.02.2015)
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Novel Clinical Features in Pontine Tegmental Cap Dysplasia
Rudaks, Laura I, Patel, Sandeep, MBBS, Barnett, Christopher P., MBBS
Published in Pediatric neurology (01.06.2012)
Published in Pediatric neurology (01.06.2012)
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Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling
LeBlanc, Shannon. K., MBBS, Taranath, Deepa, MS(Ophth), FRANZCO, Morris, Scott, MBBS, PhD, Barnett, Christopher P., MBBS, FRACP
Published in Journal of AAPOS (01.02.2014)
Published in Journal of AAPOS (01.02.2014)
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Novel TSEN54 Mutation Causing Pontocerebellar Hypoplasia Type 4
Rudaks, Laura I, Moore, Lynette, MBBS, Shand, Karen L., BMBS, Wilkinson, Christopher, BMed, Barnett, Christopher P., MBBS
Published in Pediatric neurology (01.09.2011)
Published in Pediatric neurology (01.09.2011)
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