Comprehensive evaluation of the child with intellectual disability or global developmental delays
about
Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular CareAdvances in understanding - genetic basis of intellectual disabilityClinical Genetic Aspects of ASD Spectrum DisordersDelivery of epilepsy care to adults with intellectual and developmental disabilities.The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders.Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.Fragile X Syndrome: Scientific Background and Screening Technologies.Cytogenetic and Clinical Features in Children Suspected With Congenital Abnormalities in 1 Medical Center of Zhejiang Province From 2011 to 2014Clinical Utility of a Comprehensive, Whole Genome CMA Testing Platform in Pediatrics: A Prospective Randomized Controlled Trial of Simulated Patients in Physician PracticesAnalytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.Do the data really support ordering fragile X testing as a first-tier test without clinical features?Patterns of Risk for Multiple Co-Occurring Medical Conditions Replicate Across Distinct Cohorts of Children with Autism Spectrum Disorder.Identification of a distinct developmental and behavioral profile in children with Dup15q syndromeUtilization of genetic testing among children with developmental disabilities in the United States.Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years.Screening for Subtelomeric Rearrangements in Thai Patients with Intellectual Disabilities Using FISH and Review of Literature on Subtelomeric FISH in 15,591 Cases with Intellectual Disabilities.Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental DisordersImpacts of caring for a child with the CDKL5 disorder on parental wellbeing and family quality of lifeSurvey of family history taking and genetic testing in pediatric practice.Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.Metabolic evaluation of children with global developmental delay.Genetic studies in intellectual disability and related disorders.Public Health Literature Review of Fragile X Syndrome.Genetic testing in patients with global developmental delay / intellectual disabilities. A review.Genomic diagnostics within a medically underserved population: efficacy and implications.Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.Ethical issues in pediatric genetic testing and screening.Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.Intellectual Disability and Language Disorder.Family Communication and Cascade Testing for Fragile X Syndrome.Assessing the Fragile X Syndrome Newborn Screening LandscapeObtaining a genetic diagnosis in a child with disability: impact on parental quality of life.Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia.Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.Genetic Advances in Intellectual Disability.Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?A novel approach in pediatric telegenetic services: geneticist, pediatrician and genetic counselor team.Intellectual disabilitiy in developmental age.
P2860
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P2860
Comprehensive evaluation of the child with intellectual disability or global developmental delays
description
2014 nî lūn-bûn
@nan
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
name
Comprehensive evaluation of th ...... or global developmental delays
@ast
Comprehensive evaluation of th ...... or global developmental delays
@en
Comprehensive evaluation of th ...... or global developmental delays
@nl
type
label
Comprehensive evaluation of th ...... or global developmental delays
@ast
Comprehensive evaluation of th ...... or global developmental delays
@en
Comprehensive evaluation of th ...... or global developmental delays
@nl
prefLabel
Comprehensive evaluation of th ...... or global developmental delays
@ast
Comprehensive evaluation of th ...... or global developmental delays
@en
Comprehensive evaluation of th ...... or global developmental delays
@nl
P3181
P356
P1433
P1476
Comprehensive evaluation of th ...... or global developmental delays
@en
P2093
J. B. Moeschler
M. Shevell
P304
P3181
P356
10.1542/PEDS.2014-1839
P407
P577
2014-09-01T00:00:00Z