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Refinado por: assunto: Child remover Base de dados/Biblioteca: Wiley Online Library remover nível superior: Recursos Online remover
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1
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations
Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations
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Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC16A2 mutations

Remerand, Ganaelle ; Boespflug‐Tanguy, Odile ; Tonduti, Davide ; Touraine, Renaud ; Rodriguez, Diana ; Curie, Aurore ; Perreton, Nathalie ; Des Portes, Vincent ; Sarret, Catherine ; Afenjar, Alexandra ; Burglen, Lydie ; Castellotti, Barbara ; Cuntz, Danielle ; Desguerre, Isabelle ; Doummar, Diane ; Estienne, Margherita ; Freri, Elena ; Heron, Delphine ; Moutard, Marie‐Laure ; Novara, Francesca ; Orcesi, Simona ; Saletti, Veronica ; Zibordi, Federica

Developmental medicine and child neurology, 2019-12, Vol.61 (12), p.1439-1447 [Periódico revisado por pares]

England

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2
Family members' reports of the technology use of family members with intellectual and developmental disabilities
Family members' reports of the technology use of family members with intellectual and developmental disabilities
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Family members' reports of the technology use of family members with intellectual and developmental disabilities

Palmer, S. B. ; Wehmeyer, M. L. ; Davies, D. K. ; Stock, S. E.

Journal of intellectual disability research, 2012-04, Vol.56 (4), p.402-414 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
Examining the social participation of children and adolescents with Intellectual Disabilities and Autism Spectrum Disorder in relation to peers
Examining the social participation of children and adolescents with Intellectual Disabilities and Autism Spectrum Disorder in relation to peers
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Examining the social participation of children and adolescents with Intellectual Disabilities and Autism Spectrum Disorder in relation to peers

Taheri, A. ; Perry, A. ; Minnes, P.

Journal of intellectual disability research, 2016-05, Vol.60 (5), p.435-443 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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4
Exploring quality of life of children with cerebral palsy and intellectual disability: What are the important domains of life?
Exploring quality of life of children with cerebral palsy and intellectual disability: What are the important domains of life?
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Exploring quality of life of children with cerebral palsy and intellectual disability: What are the important domains of life?

Davis, E. ; Reddihough, D. ; Murphy, N. ; Epstein, A. ; Reid, S. M. ; Whitehouse, A. ; Williams, K. ; Leonard, H. ; Downs, J.

Child : care, health & development, 2017-11, Vol.43 (6), p.854-860 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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5
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome
A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome
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A novel homozygous nonsense mutation of VPS13B associated with previously unreported features of Cohen syndrome

Koehler, Katrin ; Schuelke, Markus ; Hell, Anna K. ; Schittkowski, Michael ; Huebner, Angela ; Brockmann, Knut

American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.570-575 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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6
Genetic causes of intellectual disability in a birth cohort: A population-based study
Genetic causes of intellectual disability in a birth cohort: A population-based study
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Genetic causes of intellectual disability in a birth cohort: A population-based study

Karam, Simone M. ; Riegel, Mariluce ; Segal, Sandra L. ; Félix, Têmis M. ; Barros, Aluísio J. D. ; Santos, Iná S. ; Matijasevich, Alicia ; Giugliani, Roberto ; Black, Maureen

American journal of medical genetics. Part A, 2015-06, Vol.167A (6), p.1204-1214 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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7
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study
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Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study

Sun, Yu ; Peng, Jing ; Liang, Desheng ; Ye, Xiantao ; Xu, Na ; Chen, Linlin ; Yan, Dan ; Zhang, Huiwen ; Xiao, Bing ; Qiu, Wenjuan ; Shen, Yiping ; Pang, Nan ; Liu, Yingdi ; Liang, Chen ; Qin, Zailong ; Luo, Jingsi ; Chen, Fei ; Wang, Jingmin ; Zhang, Zhixin ; Wei, Haiyan ; Du, Juan ; Yan, Huifang ; Duan, Ruoyu ; Wang, Junyu ; Zhang, Yu ; Liao, Shixiu ; Sun, Kun ; Wu, Lingqian ; Yu, Yongguo

Human mutation, 2022-05, Vol.43 (5), p.568-581 [Periódico revisado por pares]

United States: Wiley Periodicals Inc

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8
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement
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Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement

Gangfuß, Andrea ; Czech, Artur ; Hentschel, Andreas ; Münchberg, Ute ; Horvath, Rita ; Töpf, Ana ; O'Heir, Emily ; Lochmüller, Hanns ; Stehling, Florian ; Kiewert, Cordula ; Sickmann, Albert ; Kuechler, Alma ; Kaiser, Frank J. ; Kölbel, Heike ; Christiansen, Jon ; Schara‐Schmidt, Ulrike ; Roos, Andreas

The Journal of pathology, 2022-01, Vol.256 (1), p.93-107 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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9
A population-based investigation of behavioural and emotional problems and maternal mental health: associations with autism spectrum disorder and intellectual disability
A population-based investigation of behavioural and emotional problems and maternal mental health: associations with autism spectrum disorder and intellectual disability
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A population-based investigation of behavioural and emotional problems and maternal mental health: associations with autism spectrum disorder and intellectual disability

Totsika, Vasiliki ; Hastings, Richard P. ; Emerson, Eric ; Lancaster, Gillian A. ; Berridge, Damon M.

Journal of child psychology and psychiatry, 2011-01, Vol.52 (1), p.91-99 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
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Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

Di Gregorio, E. ; Riberi, E. ; Belligni, E.F. ; Biamino, E. ; Spielmann, M. ; Ala, U. ; Calcia, A. ; Bagnasco, I. ; Carli, D. ; Gai, G. ; Giordano, M. ; Guala, A. ; Keller, R. ; Mandrile, G. ; Arduino, C. ; Maffè, A. ; Naretto, V.G. ; Sirchia, F. ; Sorasio, L. ; Ungari, S. ; Zonta, A. ; Zacchetti, G. ; Talarico, F. ; Pappi, P. ; Cavalieri, S. ; Giorgio, E. ; Mancini, C. ; Ferrero, M. ; Brussino, A. ; Savin, E. ; Gandione, M. ; Pelle, A. ; Giachino, D.F. ; De Marchi, M. ; Restagno, G. ; Provero, P. ; Cirillo Silengo, M. ; Grosso, E. ; Buxbaum, J.D. ; Pasini, B. ; De Rubeis, S. ; Brusco, A. ; Ferrero, G.B.

Clinical genetics, 2017-10, Vol.92 (4), p.415-422 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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