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1
Can untreated PKU patients escape from intellectual disability? A systematic review
Can untreated PKU patients escape from intellectual disability? A systematic review
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Can untreated PKU patients escape from intellectual disability? A systematic review

van Vliet, Danique ; van Wegberg, Annemiek M J ; Ahring, Kirsten ; Bik-Multanowski, Miroslaw ; Blau, Nenad ; Bulut, Fatma D ; Casas, Kari ; Didycz, Bozena ; Djordjevic, Maja ; Federico, Antonio ; Feillet, François ; Gizewska, Maria ; Gramer, Gwendolyn ; Hertecant, Jozef L ; Hollak, Carla E M ; Jørgensen, Jens V ; Karall, Daniela ; Landau, Yuval ; Leuzzi, Vincenzo ; Mathisen, Per ; Moseley, Kathryn ; Mungan, Neslihan Ö ; Nardecchia, Francesca ; Õunap, Katrin ; Powell, Kimberly K ; Ramachandran, Radha ; Rutsch, Frank ; Setoodeh, Aria ; Stojiljkovic, Maja ; Trefz, Fritz K ; Usurelu, Natalia ; Wilson, Callum ; van Karnebeek, Clara D ; Hanley, William B ; van Spronsen, Francjan J

Orphanet journal of rare diseases, 2018-08, Vol.13 (1), p.149-149, Article 149 [Periódico revisado por pares]

England: BioMed Central

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2
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
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New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

Bruno, Lucia Pia ; Doddato, Gabriella ; Valentino, Floriana ; Baldassarri, Margherita ; Tita, Rossella ; Fallerini, Chiara ; Bruttini, Mirella ; Lo Rizzo, Caterina ; Mencarelli, Maria Antonietta ; Mari, Francesca ; Pinto, Anna Maria ; Fava, Francesca ; Fabbiani, Alessandra ; Lamacchia, Vittoria ; Carrer, Anna ; Caputo, Valentina ; Granata, Stefania ; Benetti, Elisa ; Zguro, Kristina ; Furini, Simone ; Renieri, Alessandra ; Ariani, Francesca

International journal of molecular sciences, 2021-12, Vol.22 (24), p.13439 [Periódico revisado por pares]

Switzerland: MDPI AG

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3
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland
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Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

Kurki, Mitja I ; Saarentaus, Elmo ; Pietiläinen, Olli ; Gormley, Padhraig ; Lal, Dennis ; Kerminen, Sini ; Torniainen-Holm, Minna ; Hämäläinen, Eija ; Rahikkala, Elisa ; Keski-Filppula, Riikka ; Rauhala, Merja ; Korpi-Heikkilä, Satu ; Komulainen-Ebrahim, Jonna ; Helander, Heli ; Vieira, Päivi ; Männikkö, Minna ; Peltonen, Markku ; Havulinna, Aki S ; Salomaa, Veikko ; Pirinen, Matti ; Suvisaari, Jaana ; Moilanen, Jukka S ; Körkkö, Jarmo ; Kuismin, Outi ; Daly, Mark J ; Palotie, Aarno

Nature communications, 2019-01, Vol.10 (1), p.410-410, Article 410 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
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Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

Begemann, Anaïs ; Acuña, Mario A ; Zweier, Markus ; Vincent, Marie ; Steindl, Katharina ; Bachmann-Gagescu, Ruxandra ; Hackenberg, Annette ; Abela, Lucia ; Plecko, Barbara ; Kroell-Seger, Judith ; Baumer, Alessandra ; Yamakawa, Kazuhiro ; Inoue, Yushi ; Asadollahi, Reza ; Sticht, Heinrich ; Zeilhofer, Hanns Ulrich ; Rauch, Anita

Molecular medicine (Cambridge, Mass.), 2019-02, Vol.25 (1), p.6-6, Article 6 [Periódico revisado por pares]

England: BioMed Central

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5
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
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Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

Soilly, A L ; Robert-Viard, C ; Besse, C ; Bruel, A L ; Gerard, B ; Boland, A ; Piton, A ; Duffourd, Y ; Muller, J ; Poë, C ; Jouan, T ; El Doueiri, S ; Faivre, L ; Bacq-Daian, D ; Isidor, B ; Genevieve, D ; Odent, S ; Philip, N ; Doco-Fenzy, M ; Lacombe, D ; Asensio, M L ; Deleuze, J F ; Binquet, C ; Thauvin-Robinet, C ; Lejeune, C

BMC health services research, 2023-04, Vol.23 (1), p.386-386, Article 386 [Periódico revisado por pares]

England: BioMed Central Ltd

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6
A Blind Spot? Screening for Mild Intellectual Disability and Borderline Intellectual Functioning in Admitted Psychiatric Patients: Prevalence and Associations with Coercive Measures
A Blind Spot? Screening for Mild Intellectual Disability and Borderline Intellectual Functioning in Admitted Psychiatric Patients: Prevalence and Associations with Coercive Measures
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A Blind Spot? Screening for Mild Intellectual Disability and Borderline Intellectual Functioning in Admitted Psychiatric Patients: Prevalence and Associations with Coercive Measures

Nieuwenhuis, Jeanet Grietje ; Noorthoorn, Eric Onno ; Nijman, Henk Llewellyn Inge ; Naarding, Paul ; Mulder, Cornelis Lambert van Amelsvoort, Therese

PloS one, 2017-02, Vol.12 (2), p.e0168847-e0168847 [Periódico revisado por pares]

United States: Public Library of Science

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7
Post-COVID-19 condition risk in patients with intellectual and developmental disabilities: a retrospective cohort study involving 36,308 patients
Post-COVID-19 condition risk in patients with intellectual and developmental disabilities: a retrospective cohort study involving 36,308 patients
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Post-COVID-19 condition risk in patients with intellectual and developmental disabilities: a retrospective cohort study involving 36,308 patients

Liu, Ting-Hui ; Huang, Po-Yu ; Wu, Jheng-Yan ; Chuang, Min-Hsiang ; Hsu, Wan-Hsuan ; Tsai, Ya-Wen ; Kao, Pei-Hsin ; Lai, Chih-Cheng

BMC medicine, 2023-12, Vol.21 (1), p.505-505, Article 505 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability
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Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability

Pasquetti, Domizia ; Gazzellone, Annalisa ; Rossi, Salvatore ; Orteschi, Daniela ; L'Erario, Federica Francesca ; Concolino, Paola ; Minucci, Angelo ; Dionisi-Vici, Carlo ; Genuardi, Maurizio ; Silvestri, Gabriella ; Chiurazzi, Pietro

International journal of molecular sciences, 2024-01, Vol.25 (1), p.495 [Periódico revisado por pares]

Switzerland: MDPI AG

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9
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
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Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families

Ilyas, Muhammad ; Efthymiou, Stephanie ; Salpietro, Vincenzo ; Noureen, Nuzhat ; Zafar, Faisal ; Rauf, Sobiah ; Mir, Asif ; Houlden, Henry

BMC medical genetics, 2020-03, Vol.21 (1), p.59-59, Article 59 [Periódico revisado por pares]

England: BioMed Central Ltd

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10
Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report
Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report
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Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

Kozina, Anastasiya Aleksandrovna ; Okuneva, Elena Grigorievna ; Baryshnikova, Natalia Vladimirovna ; Fedonyuk, Inessa Dmitrievna ; Kholin, Alexey Aleksandrovich ; Il'ina, Elena Stepanovna ; Krasnenko, Anna Yurievna ; Stetsenko, Ivan Fedorovich ; Plotnikov, Nikolay Alekseevich ; Klimchuk, Olesia Igorevna ; Surkova, Ekaterina Ivanovna ; Ilinsky, Valery Vladimirovich

BMC medical genetics, 2020-10, Vol.21 (1), p.209-209, Article 209 [Periódico revisado por pares]

England: BioMed Central Ltd

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