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Refinado por: assunto: Child remover assunto: Neurosciences & Neurology 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
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability
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Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

Snoeijen‐Schouwenaars, Francesca M. ; van Ool, Jans S. ; Verhoeven, Judith S. ; Mierlo, Petra ; Braakman, Hilde M. H. ; Smeets, Eric E. ; Nicolai, Joost ; Schoots, Jeroen ; Teunissen, Mariel W. A. ; Rouhl, Rob P. W. ; Tan, In Y. ; Yntema, Helger G. ; Brunner, Han G. ; Pfundt, Rolph ; Stegmann, Alexander P. ; Kamsteeg, Erik‐Jan ; Schelhaas, Helenius J. ; Willemsen, Marjolein H.

Epilepsia (Copenhagen), 2019-01, Vol.60 (1), p.155-164 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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5
Emerging Monogenic Complex Hyperkinetic Disorders
Emerging Monogenic Complex Hyperkinetic Disorders
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Emerging Monogenic Complex Hyperkinetic Disorders

Carecchio, Miryam ; Mencacci, Niccolò E.

Current neurology and neuroscience reports, 2017-12, Vol.17 (12), p.97-11, Article 97 [Periódico revisado por pares]

New York: Springer US

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6
The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population
The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population
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The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population

Hanson, Ellen ; Bernier, Raphael ; Porche, Ken ; Jackson, Frank I ; Goin-Kochel, Robin P ; Snyder, LeeAnne Green ; Snow, Anne V ; Wallace, Arianne Stevens ; Campe, Katherine L ; Zhang, Yuan ; Chen, Qixuan ; D’Angelo, Debra ; Moreno-De-Luca, Andres ; Orr, Patrick T ; Boomer, K.B ; Evans, David W ; Kanne, Stephen ; Berry, Leandra ; Miller, Fiona K ; Olson, Jennifer ; Sherr, Elliot ; Martin, Christa L ; Ledbetter, David H ; Spiro, John E ; Chung, Wendy K

Biological psychiatry (1969), 2015-05, Vol.77 (9), p.785-793 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Participation, both a means and an end: a conceptual analysis of processes and outcomes in childhood disability
Participation, both a means and an end: a conceptual analysis of processes and outcomes in childhood disability
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Participation, both a means and an end: a conceptual analysis of processes and outcomes in childhood disability

Imms, Christine ; Granlund, Mats ; Wilson, Peter H ; Steenbergen, Bert ; Rosenbaum, Peter L ; Gordon, Andrew M

Developmental medicine and child neurology, 2017-01, Vol.59 (1), p.16-25 [Periódico revisado por pares]

England

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8
Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities
Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities
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Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities

Ben-Mahmoud, Afif ; Al-Shamsi, Aisha M. ; Ali, Bassam R. ; Al-Gazali, Lihadh

Journal of molecular neuroscience, 2020-03, Vol.70 (3), p.320-327 [Periódico revisado por pares]

New York: Springer US

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9
Characterization of the GABRB2‐Associated Neurodevelopmental Disorders
Characterization of the GABRB2‐Associated Neurodevelopmental Disorders
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Characterization of the GABRB2‐Associated Neurodevelopmental Disorders

Achkar, Christelle M. ; Harrer, Merle ; Smith, Lacey ; Kelly, McKenna ; Iqbal, Sumaiya ; Maljevic, Snezana ; Niturad, Cristina E. ; Vissers, Lisenka E. L. M. ; Poduri, Annapurna ; Yang, Edward ; Lal, Dennis ; Lerche, Holger ; Møller, Rikke S. ; Olson, Heather E.

Annals of neurology, 2021-03, Vol.89 (3), p.573-586 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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10
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome
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Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome

Pescosolido, Matthew F. ; Stein, David M. ; Schmidt, Michael ; El Achkar, Christelle Moufawad ; Sabbagh, Mark ; Rogg, Jeffrey M. ; Tantravahi, Umadevi ; McLean, Rebecca L. ; Liu, Judy S. ; Poduri, Annapurna ; Morrow, Eric M.

Annals of neurology, 2014-10, Vol.76 (4), p.581-593 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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