Search Results

Clinical features of patients with Yin Yang 1 deficiency causing Gabriele-de Vries syndrome: A new case and review of the literature.

• Authors : Khamirani HJ; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Yin-Yang*; Child

• Source: Annals of human genetics [Ann Hum Genet] 2022 Jan; Vol. 86 (1), pp. 52-62. Date of Electronic Publication: 2021 Nov 03.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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The Associations Between Accelerometer-Measured Physical Activity Levels and Mental Health in Children and Adolescents with Intellectual Disabilities During the COVID-19 Pandemic.

• Authors : Yang W; Department of Sports Science and Physical Education, The Chinese University of Hong Kong, Hong Kong SAR, China.; Li MH

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/epidemiology ; COVID-19* ; Autism Spectrum Disorder*

• Source: Journal of autism and developmental disorders [J Autism Dev Disord] 2023 Dec; Vol. 53 (12), pp. 4809-4821. Date of Electronic Publication: 2022 Oct 01.Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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How Andrew Yang's Personal Experience With Autism Is Shaping His Policy Proposals

• Source: All Things Considered. January 2, 2020

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Clinical feature and genetic mutation of KBG syndrome diagnosed in neonatal period: A case report.

• Authors : Zhang H; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, China.; Guo X

Subjects: Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/diagnosis ; Bone Diseases, Developmental*/Bone Diseases, Developmental*/Bone Diseases, Developmental*/diagnosis ; Brain Injuries* KBG syndrome

• Source: Medicine [Medicine (Baltimore)] 2023 Oct 06; Vol. 102 (40), pp. e35449.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN:

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Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.

• Authors : Bourgois A; Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, UR 7450 BioTARGen, FHU G4 Genomics, Caen, France.; Bizaoui V

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/diagnosis ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63457. Date of Electronic Publication: 2023 Oct 26.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.

• Authors : Woods E; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK.; Division of Clinical Medicine, School of Medicine and Population Health, University of Sheffield, Sheffield, UK.

Subjects: Developmental Disabilities*/Developmental Disabilities*/Developmental Disabilities*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Abnormalities, Multiple*

• Source: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 470-487. Date of Electronic Publication: 2024 Feb 29.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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A perspective on molecular signalling dysfunction, its clinical relevance and therapeutics in autism spectrum disorder.

• Authors : Purushotham SS; Neuroscience Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bengaluru, 560064, India.; Reddy NMN

Subjects: Autism Spectrum Disorder*/Autism Spectrum Disorder*/Autism Spectrum Disorder*/complications ; Autism Spectrum Disorder*/Autism Spectrum Disorder*/Autism Spectrum Disorder*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/complications

• Source: Experimental brain research [Exp Brain Res] 2022 Oct; Vol. 240 (10), pp. 2525-2567. Date of Electronic Publication: 2022 Sep 05.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0043312 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Analysis of sedentary behaviour levels and patterns in adults with Down syndrome.

• Authors : Ballenger BK; Department of Kinesiology, Mississippi State University, Starkville, Mississippi, USA.; Haider M

Subjects: Down Syndrome* ; Intellectual Disability*; Male

• Source: Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2024 Jan; Vol. 37 (1), pp. e13176. Date of Electronic Publication: 2023 Nov 10.Publisher: Blackwell Science Country of Publication: England NLM ID: 9613616 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

• Authors : Schmetz A; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University, Moorenstraße 5, 40225, Düsseldorf, Germany. .; Lüdecke HJ

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/diagnosis ; Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/genetics Coffin-Siris syndrome

• Source: Human genetics [Hum Genet] 2024 Jan; Vol. 143 (1), pp. 71-84. Date of Electronic Publication: 2023 Dec 20.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Heterozygous variants in SPTBN1 cause intellectual disability and autism.

• Authors : Rosenfeld JA; Xiao R ...

Subjects: Autistic Disorder/Autistic Disorder/Autistic Disorder/*genetics ; Epilepsy/Epilepsy/Epilepsy/*genetics ; Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jul; Vol. 185 (7), pp. 2037-2045. Date of Electronic Publication: 2021 Apr 13.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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