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21by Araújo, B.M.P, Avansini, S.H, Camargo, A.P, Carvalho, V.M.A, de Souza, J.S, Haddad, G.G, LaMontagne, E., Muotri, A.R, Nakahara, T.S, Papes, F., Sánchez-Sánchez, S.M, Santo, C.N, Szeto, R.A, Teixeira, J.R, Velho, P.E.N.F, Wu, W., Yao, H.View Fulltext in Publisher
Published 2022
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22by José R. Teixeira, Ryan A. Szeto, Vinicius M. A. Carvalho, Alysson R. Muotri, Fabio Papes“... devastating autism spectrum disorder known as Pitt–Hopkins syndrome, characterized by a range of aberrant...”
Published 2021-01-01
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23“...Haploinsufficiency of TCF4 causes Pitt-Hopkins syndrome (PTHS): a severe form of mental retardation...”
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24by Ullmann Reinhard, Tinschert Sigrid, Prott Eva, Nagl Sandra, Maystadt Isabelle, Kohlhase Jürgen, Klapecki Jakub, Hoyer Juliane, Horn Denise, Hackmann Karl, Engels Hartmut, Ekici Arif B, Bijlsma Emilia K, Bader Ingrid, Albrecht Beate, Gregor Anne, Wohlleber Eva, Woods Geoffrey, Reis André, Rauch Anita, Zweier Christiane“....</p> <p>Methods</p> <p>99 patients with severe intellectual disability and resemblance to Pitt-Hopkins...”
Published 2011-08-01
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25by Raffaele Falsaperla, Xena Giada Pappalardo, Xena Giada Pappalardo, Catia Romano, Simona Domenica Marino, Giovanni Corsello, Martino Ruggieri, Enrico Parano, Piero Pavone“... Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language...”
Published 2020-09-01
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