Torthaí cuardaigh - Skinner, Steve

Mucolipidosis Type IV: A Subtle Pediatric Neurodegenerative Disorder de réir Geer, Joseph S., Skinner, Steve A., Goldin, Ehud, Holden, Kenton R.

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Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome de réir Neighbors, Addison, Moss, Tonya, Holloway, Lynda, Yu, Seok‐Ho, Annese, Fran, Skinner, Steve, Saneto, Russell, Steet, Richard

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Scoliosis in Rett Syndrome: Progression, Comorbidities, and Predictors de réir Killian, John T., Lane, Jane B., Lee, Hye-Seung, Skinner, Steve A., Kaufmann, Walter E., Glaze, Daniel G., Neul, Jeffrey L., Percy, Alan K.

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Longevity in Rett Syndrome: Analysis of the North American Database de réir Kirby, Russell S., Lane, Jane B, Childers, Jerry, Skinner, Steve A., Annese, Fran, Barrish, Judy O., Glaze, Daniel G., MacLeod, Patrick, Percy, Alan K.

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Importance of genetic testing in global health during the evaluation of familial microcephaly de réir Molinero, Isaac, Broman‐Fulks, Jordan, Lyons, Michael J., Matheus, Maria Gisele, Chaubey, Alka, DuPont, Barbara R., Friez, Michael J., Skinner, Steve A., Holden, Kenton R.

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Assessment of Caregiver Inventory for Rett Syndrome de réir Lane, Jane B., Salter, Amber R., Jones, Nancy E., Cutter, Gary, Horrigan, Joseph, Skinner, Steve A., Kaufmann, Walter E., Glaze, Daniel G., Neul, Jeffrey L., Percy, Alan K.

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Phenotypic features in MECP2 duplication syndrome: Effects of age de réir Peters, Sarika U., Fu, Cary, Marsh, Eric D., Benke, Tim A., Suter, Bernard, Skinner, Steve A., Lieberman, David N., Standridge, Shannon, Jones, Mary, Beisang, Arthur, Feyma, Timothy, Heydeman, Peter, Ryther, Robin, Glaze, Daniel G., Percy, Alan K., Neul, Jeffrey L.

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Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome de réir Knaus, Alexej, Awaya, Tomonari, Helbig, Ingo, Afawi, Zaid, Pendziwiat, Manuela, Abu‐Rachma, Jubran, Thompson, Miles D., Cole, David E., Skinner, Steve, Annese, Fran, Canham, Natalie, Schweiger, Michal R., Robinson, Peter N., Mundlos, Stefan, Kinoshita, Taroh, Munnich, Arnold, Murakami, Yoshiko, Horn, Denise, Krawitz, Peter M.

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Analysis of X‐inactivation status in a Rett syndrome natural history study cohort de réir Fang, Xiaolan, Butler, Kameryn M., Abidi, Fatima, Gass, Jennifer, Beisang, Arthur, Feyma, Timothy, Ryther, Robin C., Standridge, Shannon, Heydemann, Peter, Jones, Mary, Haas, Richard, Lieberman, David N, Marsh, Eric D., Benke, Tim A., Skinner, Steve, Neul, Jeffrey L., Percy, Alan K., Friez, Michael J., Caylor, Raymond C.

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Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study de réir Buchanan, Caroline B., Stallworth, Jennifer L., Joy, Aubin E., Dixon, Rebekah E., Scott, Alexandra E., Beisang, Arthur A., Benke, Timothy A., Glaze, Daniel G., Haas, Richard H., Heydemann, Peter T., Jones, Mary D., Lane, Jane B., Lieberman, David N., Marsh, Eric D., Neul, Jeffrey L., Peters, Sarika U., Ryther, Robin C., Skinner, Steve A., Standridge, Shannon M., Kaufmann, Walter E., Percy, Alan K.

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Development of a small molecule that corrects misfolding and increases secretion of Z α(1)‐antitrypsin de réir Lomas, David A, Irving, James A, Arico‐Muendel, Christopher, Belyanskaya, Svetlana, Brewster, Andrew, Brown, Murray, Chung, Chun‐wa, Dave, Hitesh, Denis, Alexis, Dodic, Nerina, Dossang, Anthony, Eddershaw, Peter, Klimaszewska, Diana, Haq, Imran, Holmes, Duncan S, Hutchinson, Jonathan P, Jagger, Alistair M, Jakhria, Toral, Jigorel, Emilie, Liddle, John, Lind, Ken, Marciniak, Stefan J, Messer, Jeff, Neu, Margaret, Olszewski, Allison, Ordonez, Adriana, Ronzoni, Riccardo, Rowedder, James, Rüdiger, Martin, Skinner, Steve, Smith, Kathrine J, Terry, Rebecca, Trottet, Lionel, Uings, Iain, Wilson, Steve, Zhu, Zhengrong, Pearce, Andrew C

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