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Academic Journal

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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Academic Journal

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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Academic Journal

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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Academic Journal

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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Academic Journal

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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Academic Journal

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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Academic Journal

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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Academic Journal

Heterozygous variants in SPTBN1 cause intellectual disability and autism.

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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Academic Journal

Key role of Rho GTPases in motor disorders associated with neurodevelopmental pathologies.

Subjects: Motor Disorders* ; Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics

  • Source: Molecular psychiatry [Mol Psychiatry] 2023 Jan; Vol. 28 (1), pp. 118-126. Date of Electronic Publication: 2022 Aug 02.Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Dissection of contiguous gene effects for deletions around ERF on chromosome 19.

Subjects: Chromosomes, Human, Pair 19* ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics; Child

  • Source: Human mutation [Hum Mutat] 2021 Jul; Vol. 42 (7), pp. 811-817. Date of Electronic Publication: 2021 May 16.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A diagnostic approach to syndromic retinal dystrophies with intellectual disability.

  • Authors : Yang XR; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Benson MD

Subjects: Diagnosis, Differential*; Eye Proteins/Eye Proteins/Eye Proteins/*genetics ; Intellectual Disability/Intellectual Disability/Intellectual Disability/*diagnosis

  • Source: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Sep; Vol. 184 (3), pp. 538-570. Date of Electronic Publication: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Interventions for health-related physical fitness and overweight and obesity in children with intellectual disability: Systematic review and meta-analysis.

  • Authors : Wang A; College of Physical Education, Yangzhou University, Yangzhou, China.; Department of Sport, Physical Education and Health, Hong Kong Baptist University, Hong Kong, China.

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/epidemiology ; Pediatric Obesity*/Pediatric Obesity*/Pediatric Obesity*/epidemiology ; Pediatric Obesity*/Pediatric Obesity*/Pediatric Obesity*/prevention & control

  • Source: Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2022 Sep; Vol. 35 (5), pp. 1073-1087. Date of Electronic Publication: 2022 Apr 20.Publisher: Blackwell Science Country of Publication: England NLM ID: 9613616 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Global prevalence of intellectual developmental disorder in dystrophinopathies: A systematic review and meta-analysis.

Subjects: Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/complications ; Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/epidemiology ; Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/genetics

  • Source: Developmental medicine and child neurology [Dev Med Child Neurol] 2023 Jun; Vol. 65 (6), pp. 734-744. Date of Electronic Publication: 2022 Nov 28.Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749

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Academic Journal

Interviews with parents of adolescents with intellectual and developmental disabilities in a weight management study.

  • Authors : Gibson CA; Department of Internal Medicine, University of Kansas Medical Center, Kansas City, Kansas, USA.; Sullivan DK

Subjects: Developmental Disabilities* ; Intellectual Disability*; Child

  • Source: Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2023 Mar; Vol. 36 (2), pp. 289-299. Date of Electronic Publication: 2022 Nov 30.Publisher: Blackwell Science Country of Publication: England NLM ID: 9613616 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Amenable deaths among adults with intellectual and developmental disabilities including Down syndrome: An Ontario population-based cohort study.

  • Authors : Lin E; Office of Education, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.

Subjects: Down Syndrome* ; Intellectual Disability*; Child

  • Source: Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2023 Jan; Vol. 36 (1), pp. 165-175. Date of Electronic Publication: 2022 Nov 15.Publisher: Blackwell Science Country of Publication: England NLM ID: 9613616 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.

  • Authors : St John M; Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Department of Audiology and Speech Pathology, University of Melbourne, Melbourne, Victoria, Australia.

Subjects: Apraxias*/Apraxias*/Apraxias*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics; Female

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3389-3400. Date of Electronic Publication: 2022 Jul 27.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Prevalence of overweight and obesity in children and adolescents with intellectual disabilities in China.

  • Authors : Yuan YQ; College of Sports and Health, Shandong Sport University, Jinan, China.; Liu Y

Subjects: Autism Spectrum Disorder* ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/epidemiology ; Pediatric Obesity*/Pediatric Obesity*/Pediatric Obesity*/epidemiology

  • Source: Journal of intellectual disability research : JIDR [J Intellect Disabil Res] 2021 Jul; Vol. 65 (7), pp. 655-665. Date of Electronic Publication: 2021Publisher: Blackwell Scientific Publications on behalf of the Royal Society for Mentally Handicapped Children and Adults Country of Publication: England NLM ID:

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Academic Journal

Stressed parents, happy parents. An assessment of parenting stress and family quality of life in families with a child with Phelan-McDermid syndrome.

Subjects: Intellectual Disability* ; Parents* ; Quality of Life*Telomeric 22q13 Monosomy Syndrome

  • Source: Journal of applied research in intellectual disabilities : JARID [J Appl Res Intellect Disabil] 2021 Jul; Vol. 34 (4), pp. 1076-1088. Date of Electronic Publication: 2021 Feb 01.Publisher: Blackwell Science Country of Publication: England NLM ID: 9613616 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.

  • Authors : Mary L; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Nourisson E

Subjects: Channelopathies/Channelopathies/Channelopathies/*genetics ; Epilepsy, Benign Neonatal/Epilepsy, Benign Neonatal/Epilepsy, Benign Neonatal/*genetics ; Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics Convulsions benign familial neonatal dominant form

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1803-1815. Date of Electronic Publication: 2021 Mar 23.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic diagnosis in Sudanese and Tunisian families with syndromic intellectual disability through exome sequencing.

  • Authors : Yahia A; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Department of Biochemistry, Faculty of Medicine, National University, Khartoum, Sudan.

Subjects: Adenosine Deaminase*/Adenosine Deaminase*/Adenosine Deaminase*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/diagnosis ; RNA-Binding Proteins*/RNA-Binding Proteins*/RNA-Binding Proteins*/genetics

  • Source: Annals of human genetics [Ann Hum Genet] 2022 Jul; Vol. 86 (4), pp. 181-194. Date of Electronic Publication: 2022 Feb 03.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Identification of an individual with a SYGNAP1 pathogenic mutation in India.

  • Authors : Verma V; Neuroscience Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, 560064, India.; Mandora A

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

  • Source: Molecular biology reports [Mol Biol Rep] 2020 Nov; Vol. 47 (11), pp. 9225-9234. Date of Electronic Publication: 2020 Oct 22.Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4978

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