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11
Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis
Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis
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Placebo Responses in Genetically Determined Intellectual Disability: A Meta-Analysis

Curie, Aurore ; Yang, Kathy ; Kirsch, Irving ; Gollub, Randy L ; des Portes, Vincent ; Kaptchuk, Ted J ; Jensen, Karin B Bardoni, Barbara

PloS one, 2015-07, Vol.10 (7), p.e0133316-e0133316 [Periódico revisado por pares]

United States: Public Library of Science

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12
Risk for Severe COVID-19 Outcomes among Persons with Intellectual Disabilities, the Netherlands
Risk for Severe COVID-19 Outcomes among Persons with Intellectual Disabilities, the Netherlands
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Risk for Severe COVID-19 Outcomes among Persons with Intellectual Disabilities, the Netherlands

Koks-Leensen, Monique C J ; Schalk, Bianca W M ; Bakker-van Gijssel, Esther J ; Timen, Aura ; Nägele, Masha E ; van den Bemd, Milou ; Leusink, Geraline L ; Cuypers, Maarten ; Naaldenberg, Jenneken

Emerging infectious diseases, 2023-01, Vol.29 (1), p.118-126 [Periódico revisado por pares]

United States: U.S. National Center for Infectious Diseases

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13
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

van der Sluijs, Pleuntje J ; Alders, Mariëlle ; Dingemans, Alexander J M ; Parbhoo, Kareesma ; van Bon, Bregje W ; Dempsey, Jennifer C ; Doherty, Dan ; den Dunnen, Johan T ; Gerkes, Erica H ; Milller, Ilana M ; Moortgat, Stephanie ; Regier, Debra S ; Ruivenkamp, Claudia A L ; Schmalz, Betsy ; Smol, Thomas ; Stuurman, Kyra E ; Vincent-Delorme, Catherine ; de Vries, Bert B A ; Sadikovic, Bekim ; Hickey, Scott E ; Rosenfeld, Jill A ; Maystadt, Isabelle ; Santen, Gijs W E

Genes, 2021-08, Vol.12 (8), p.1275 [Periódico revisado por pares]

Switzerland: MDPI AG

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14
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders
High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders
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High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders

Spataro, Nino ; Trujillo-Quintero, Juan Pablo ; Manso, Carmen ; Gabau, Elisabeth ; Capdevila, Nuria ; Martinez-Glez, Victor ; Berenguer-Llergo, Antoni ; Reyes, Sara ; Brunet, Anna ; Baena, Neus ; Guitart, Miriam ; Ruiz, Anna

Genes, 2023-03, Vol.14 (3), p.708 [Periódico revisado por pares]

Switzerland: MDPI AG

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15
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases
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Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

Aristidou, Constantia ; Theodosiou, Athina ; Bak, Mads ; Mehrjouy, Mana M ; Constantinou, Efthymia ; Alexandrou, Angelos ; Papaevripidou, Ioannis ; Christophidou-Anastasiadou, Violetta ; Skordis, Nicos ; Kitsiou-Tzeli, Sophia ; Tommerup, Niels ; Sismani, Carolina Palit Deb, Swati

PloS one, 2018-10, Vol.13 (10), p.e0205298-e0205298 [Periódico revisado por pares]

United States: Public Library of Science

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16
Understanding inequalities in COVID-19 outcomes following hospital admission for people with intellectual disability compared to the general population: a matched cohort study in the UK
Understanding inequalities in COVID-19 outcomes following hospital admission for people with intellectual disability compared to the general population: a matched cohort study in the UK
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Understanding inequalities in COVID-19 outcomes following hospital admission for people with intellectual disability compared to the general population: a matched cohort study in the UK

Baksh, R Asaad ; Pape, Sarah E ; Smith, James ; Strydom, André

BMJ open, 2021-10, Vol.11 (10), p.e052482-e052482 [Periódico revisado por pares]

England: British Medical Journal Publishing Group

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17
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature
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Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature

Trimarchi, Gabriele ; Caraffi, Stefano Giuseppe ; Radio, Francesca Clementina ; Barresi, Sabina ; Contrò, Gianluca ; Pizzi, Simone ; Maini, Ilenia ; Pollazzon, Marzia ; Fusco, Carlo ; Sassi, Silvia ; Nicoli, Davide ; Napoli, Manuela ; Pascarella, Rosario ; Gargano, Giancarlo ; Zuffardi, Orsetta ; Tartaglia, Marco ; Garavelli, Livia

Genes, 2021-06, Vol.12 (7), p.950 [Periódico revisado por pares]

Switzerland: MDPI AG

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18
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil
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Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil

Leite, Ana Julia da Cunha ; Pinto, Irene Plaza ; Leijsten, Nico ; Ruiterkamp-Versteeg, Martina ; Pfundt, Rolph ; de Leeuw, Nicole ; da Cruz, Aparecido Divino ; Minasi, Lysa Bernardes Santos-Cortez, Regie Lyn Pastor

PloS one, 2022-04, Vol.17 (4), p.e0266493-e0266493 [Periódico revisado por pares]

United States: Public Library of Science

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19
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
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The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing

Wang, Jun ; Wang, Yan ; Wang, Liwen ; Chen, Wang Yang ; Sheng, Min

BMC medical genomics, 2020-05, Vol.13 (1), p.70-70, Article 70 [Periódico revisado por pares]

England: BioMed Central Ltd

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20
Botulinum Neurotoxin Injections in Children with Self-Injurious Behaviors
Botulinum Neurotoxin Injections in Children with Self-Injurious Behaviors
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Botulinum Neurotoxin Injections in Children with Self-Injurious Behaviors

Hull, Mariam ; Parnes, Mered ; Jankovic, Joseph

Toxins, 2023-03, Vol.15 (4), p.236 [Periódico revisado por pares]

Switzerland: MDPI AG

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