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Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Reproductive and Child Health

Last data update: Jun 28, 2022. (Total: 47943 Documents since 2012)
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Records 1 - 20 (of 20 Records)

Query Trace: Developmental Disabilities Or Developmental Disorders Or Intellectual Disorder Or Intellectual Disability[original query]>>Evidence Synthesis [Product Type]
The opinions and experiences of people with intellectual disability regarding genetic testing and genetic medicine: A systematic review.
Strnadová Iva et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
Clinical utility and cost-effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center.
Su Meng et al. Journal of genetic counseling 2021
Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.
Stefanski Arthur et al. Epilepsia 2020 Nov
Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies.
Li Chunmei et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Oct
Impacts of genomics on the health and social costs of intellectual disability.
Doble Brett et al. Journal of medical genetics 2020 Jan
CLINGEN Actionability Report for Phenylketonuria (PKU) - PAH
ClinGen Actionability Working Group
CLINGEN Actionability Report for Homocystinuria due to Cystathionine Beta-Synthase Deficiency - CBS
ClinGen Actionability Working Group
CLINGEN Actionability Report for Wilms tumor-WT1
ClinGen Actionability Working Group
CLINGEN Actionability Report for Neurofibromatosis type 1 - NF1
ClinGen Actionability Working Group
CLINGEN Actionability Report for PTEN Hamartoma Tumor Syndrome - Cowden Syndrome-PTEN
ClinGen Actionability Working Group
CLINGEN Actionability Report for Tuberous Sclerosis Complex (TSC)-TSC1, TSC2
ClinGen Actionability Working Group
CLINGEN Actionability Report for Methylmalonic Academia - MUT, MMAA, MMAB, MMADHC, MCEE, MMACHC
ClinGen Actionability Working Group
Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet Danique et al. Orphanet journal of rare diseases 2018 Aug 13(1) 149
Fragile X checklists: A meta-analysis and development of a simplified universal clinical checklist.
Lubala Toni Kasole et al. Molecular genetics & genomic medicine 2018 Apr
Cost Effectiveness of Karyotyping, Chromosomal Microarray Analysis, and Targeted Next-Generation Sequencing of Patients with Unexplained Global Developmental Delay or Intellectual Disability.
Li Yonghong et al. Molecular diagnosis & therapy 2017 Dec
Assessing the Fragile X Syndrome Newborn Screening Landscape.
Riley Catharine et al. Pediatrics 2017 Jun 139(Suppl 3) S207-S215
Special Report: Chromosomal Microarray for the Genetic Evaluation of Patients With Global Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder.
Technol Eval Cent Assess Program Exec Summ 2015 Aug 30(2) 1-4
Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder
Rockville (MD):Agency for Healthcare Research and Quality (US) 2015 Jun
Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.
Developmental and behavioral pediatricians' attitudes toward screening for fragile X.
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