Search Results - "Whitelaw, Charlotte M"

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood by Heinzen, Erin L, Swoboda, Kathryn J, Hitomi, Yuki, Gurrieri, Fiorella, Nicole, Sophie, de Vries, Boukje, Tiziano, F Danilo, Fontaine, Bertrand, Walley, Nicole M, Heavin, Sinéad, Panagiotakaki, Eleni, Fiori, Stefania, Abiusi, Emanuela, Di Pietro, Lorena, Sweney, Matthew T, Newcomb, Tara M, Viollet, Louis, Huff, Chad, Jorde, Lynn B, Reyna, Sandra P, Murphy, Kelley J, Shianna, Kevin V, Gumbs, Curtis E, Little, Latasha, Silver, Kenneth, Ptáček, Louis J, Haan, Joost, Ferrari, Michel D, Bye, Ann M, Herkes, Geoffrey K, Whitelaw, Charlotte M, Webb, David, Lynch, Bryan J, Uldall, Peter, King, Mary D, Scheffer, Ingrid E, Neri, Giovanni, Arzimanoglou, Alexis, van den Maagdenberg, Arn M J M, Sisodiya, Sanjay M, Mikati, Mohamad A, Goldstein, David B

“…David Goldstein, Mohamad Mikati and colleagues report identification of de novo mutations in ATP1A3 in alternating hemiplegia of childhood, which is a rare…”
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Primary trabeculodysgenesis in association with neonatal Marfan syndrome by Whitelaw, Charlotte M., Anwar, Samira, Adès, Lesley C., Gole, Glen A., Elder, James E., Savarirayan, Ravi

“…We present the clinical and ophthalmological findings in two infants with neonatal Marfan syndrome (nMFS) and primary trabeculodysgenesis (PT). Fibrillin 1…”
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Job‐sharing in paediatric training in Australia: availability and trainee perceptions by Whitelaw, Charlotte M, Nash, Margot C

“…ABSTRACT Objective To examine the current availability of job‐sharing in paediatric training hospitals in Australia and to evaluate job‐sharing from the…”
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Primary trabeculodysgenesis in association with neonatal Marfan syndrome by Whitelaw, Charlotte M., Anwar, Samira, Adès, Lesley C., Gole, Glen A., Elder, James E., Savarirayan, Ravi

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