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Comprehensive evaluation of the child with intellectual disability or global developmental delays
Comprehensive evaluation of the child with intellectual disability or global developmental delays
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Comprehensive evaluation of the child with intellectual disability or global developmental delays

Moeschler, John B ; Shevell, Michael

Pediatrics (Evanston), 2014-09, Vol.134 (3), p.e903-e918 [Periódico revisado por pares]

United States: American Academy of Pediatrics

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2
Promoting Social Interactions and Job Independence for College Students with Autism or Intellectual Disability: A Pilot Study
Promoting Social Interactions and Job Independence for College Students with Autism or Intellectual Disability: A Pilot Study
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Promoting Social Interactions and Job Independence for College Students with Autism or Intellectual Disability: A Pilot Study

Gilson, Carly B. ; Carter, Erik W.

Journal of autism and developmental disorders, 2016-11, Vol.46 (11), p.3583-3596 [Periódico revisado por pares]

New York: Springer US

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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
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

Besnard, Thomas ; Sloboda, Natacha ; Goldenberg, Alice ; Küry, Sébastien ; Cogné, Benjamin ; Breheret, Flora ; Trochu, Eva ; Conrad, Solène ; Vincent, Marie ; Deb, Wallid ; Balguerie, Xavier ; Barbarot, Sébastien ; Baujat, Geneviève ; Ben-Omran, Tawfeg ; Bursztejn, Anne-Claire ; Carmignac, Virginie ; Datta, Alexandre N. ; Delignières, Aline ; Faivre, Laurence ; Gardie, Betty ; Guéant, Jean-Louis ; Kuentz, Paul ; Lenglet, Marion ; Nassogne, Marie-Cécile ; Ramaekers, Vincent ; Schnur, Rhonda E. ; Si, Yue ; Torti, Erin ; Thevenon, Julien ; Vabres, Pierre ; Van Maldergem, Lionel ; Wand, Dorothea ; Wiedemann, Arnaud ; Cariou, Bertrand ; Redon, Richard ; Lamazière, Antonin ; Bézieau, Stéphane ; Feillet, Francois ; Isidor, Bertrand

Genetics in medicine, 2019-09, Vol.21 (9), p.2025-2035 [Periódico revisado por pares]

United States: Elsevier Inc

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5
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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6
Genomic diagnosis for children with intellectual disability and/or developmental delay
Genomic diagnosis for children with intellectual disability and/or developmental delay
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Artigo 		Adicionar ao Meu Espaço

Genomic diagnosis for children with intellectual disability and/or developmental delay

Bowling, Kevin M ; Thompson, Michelle L ; Amaral, Michelle D ; Finnila, Candice R ; Hiatt, Susan M ; Engel, Krysta L ; Cochran, J Nicholas ; Brothers, Kyle B ; East, Kelly M ; Gray, David E ; Kelley, Whitley V ; Lamb, Neil E ; Lose, Edward J ; Rich, Carla A ; Simmons, Shirley ; Whittle, Jana S ; Weaver, Benjamin T ; Nesmith, Amy S ; Myers, Richard M ; Barsh, Gregory S ; Bebin, E Martina ; Cooper, Gregory M

Genome medicine, 2017-05, Vol.9 (1), p.43-43, Article 43 [Periódico revisado por pares]

England: BioMed Central

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7
Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability
Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability
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Genomic study via chromosomal microarray analysis in a group of Romanian patients with obesity and developmental disability/intellectual disability

Micleaa, Diana ; Al-Khzouza, Camelia ; Osan, Sergiu ; Bucerzan, Simona ; Cret, Victoria ; Popp, Radu Anghel ; Puiu, Maria ; Chirita-Emandi, Adela ; Zimbru, Cristian ; Ghervan, Cristina

Journal of Pediatric Endocrinology & Metabolism, 2019-07, Vol.32 (7), p.667-674 [Periódico revisado por pares]

Germany: De Gruyter

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8
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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9
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Kim, Jung-Hyun ; Shinde, Deepali N. ; Reijnders, Margot R.F. ; Hauser, Natalie S. ; Belmonte, Rebecca L. ; Wilson, Gregory R. ; Bosch, Daniëlle G.M. ; Bubulya, Paula A. ; Shashi, Vandana ; Petrovski, Slavé ; Stone, Joshua K. ; Park, Eun Young ; Veltman, Joris A. ; Sinnema, Margje ; Stumpel, Connie T.R.M. ; Draaisma, Jos M. ; Nicolai, Joost ; Yntema, Helger G. ; Lindstrom, Kristin ; de Vries, Bert B.A. ; Jewett, Tamison ; Santoro, Stephanie L. ; Vogt, Julie ; Bachman, Kristine K. ; Seeley, Andrea H. ; Krokosky, Alyson ; Turner, Clesson ; Rohena, Luis ; Hempel, Maja ; Kortüm, Fanny ; Lessel, Davor ; Neu, Axel ; Strom, Tim M. ; Wieczorek, Dagmar ; Bramswig, Nuria ; Laccone, Franco A. ; Behunova, Jana ; Rehder, Helga ; Gordon, Christopher T. ; Rio, Marlène ; Romana, Serge ; Tang, Sha ; El-Khechen, Dima ; Cho, Megan T. ; McWalter, Kirsty ; Douglas, Ganka ; Baskin, Berivan ; Begtrup, Amber ; Funari, Tara ; Schoch, Kelly ; Stegmann, Alexander P.A. ; Stevens, Servi J.C. ; Zhang, Dong-Er ; Traver, David ; Yao, Xu ; MacArthur, Daniel G. ; Brunner, Han G. ; Mancini, Grazia M. ; Myers, Richard M. ; Owen, Laurie B. ; Lim, Ssang-Taek ; Stachura, David L. ; Vissers, Lisenka E.L.M. ; Ahn, Eun-Young Erin

American journal of human genetics, 2016-09, Vol.99 (3), p.711-719 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Adult psychiatric and psychosocial outcomes of children with mild intellectual disability: a register follow-up of a population-based cohort
Adult psychiatric and psychosocial outcomes of children with mild intellectual disability: a register follow-up of a population-based cohort
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Adult psychiatric and psychosocial outcomes of children with mild intellectual disability: a register follow-up of a population-based cohort

Landgren, V ; Hedman, E ; Lindblad, I ; Gillberg, C ; Fernell, E

Journal of intellectual disability research, 2024-01, Vol.68 (1), p.34-44 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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