Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Precision Health Database


Precision Health Database|Search|PHGKB

Last data update: Jun 01, 2023. (Total: 60046 Documents since 2012)
   dataset      
Filtered By:

Previous    

Records 1 - 30 (of 732 Records)

Next

Query Trace:
Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.
Yanqiu Liu et al. Hum Genome Var 2023 10(1) 15
Never "totally prepared": Support groups on helping families prepare for a child with a genetic condition.
Kaitlynn P Craig et al. J Community Genet 2023 1-9
Birth Defects Research and Tracking
CDC, March 2023
Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
M Pennings et al, EJHG, February 13, 2023
National Birth Defects Awareness Month: Healthy Communities, Healthy Babies
NBDPN, January 2023
High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
RB Deloge et al, EJHG, December 6, 2022
Analysis results of 579 cases of genomic copy number variation sequencing of pregnant women in prenatal diagnosis.
Huang L-L et al. European review for medical and pharmacological sciences 2022 26(20) 7572-7579
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto Masamune et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.
Okashah Sarah et al. Genes 2022 13(8)
CHDbase: A comprehensive knowledgebase for congenital heart disease-related genes and clinical manifestations.
Zhou Wei-Zhen et al. Genomics, proteomics & bioinformatics 2022
Carrier detection probabilities for autosomal recessive variants in unrelated and consanguineous couples - an evaluation of the 86 genes of the ACMG 'Tier 3' panel.
Schmidtke Jörg et al. Journal of community genetics 2022
Critical Appraisal of Droplet Digital Polymerase Chain Reaction (ddPCR) Application for Non-Invasive Prenatal testing.
Shekhawat Dolat Singh et al. Congenital anomalies 2022
Health economic evaluation of noninvasive prenatal testing and serum screening for down syndrome.
Xiao Gefei et al. PloS one 2022 17(4) e0266718
Factors associated with maternal consent for use of residual newborn bloodspots in the National Birth Defects Prevention Study.
Wong Eugene C et al. Birth defects research 2022
Children with genetic conditions in the United States: Prevalence estimates from the 2016-2017 National Survey of Children's Health.
Lichstein Jesse et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
Awareness of Birth Defects Across the Lifespan
CDC, January 3, 2022
Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Bizzari Sami et al. Genes 2021 12(10)
Genetics of diaphragmatic hernia.
Schreiner Yannick et al. European journal of human genetics : EJHG 2021
Comprehensive non-invasive prenatal screening for pregnancies with elevated risks of genetic disorders: protocol for a prospective, multicentre study.
Xu Chenming et al. BMJ open 2021 11(8) e053617
Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Sabir Ataf et al. British medical bulletin 2021
Genomic frontiers in congenital heart disease.
Morton Sarah U et al. Nature reviews. Cardiology 2021
Correlates of knowledge of genetic diseases and congenital anomalies among pregnant women attending antenatal clinics in Lagos, South-West Nigeria.
Ogamba Chibuzor Franklin et al. The Pan African medical journal 2021 38310
The Perception of Premarital Genetic Screening within Young Jordanian Individuals.
Altaany Zaid et al. Public health genomics 2021 1-7
Clinical and genetic findings in patients with congenital cataract and heart diseases.
Li Xinru et al. Orphanet journal of rare diseases 2021 16(1) 242
[Application of Array-based Comparative Genomic Hybridization in Diagnostic Assessment of Abnormal Prenatal Serological Screening Results of Down's Syndrome].
Hu Rui et al. Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2021 52(2) 319-325
Understanding Pregnancy Loss, Infertility, Birth Defects and the MTHFR gene: What Everyone Should Know
J Gunter, the Vajenda, March 27, 2021
Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China.
Luo Xiaomei et al. Taiwanese journal of obstetrics & gynecology 2021 60(2) 299-304
World Birth Defects Day, March 3, 2021
CDC, March 2021
A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.
Yang Haiyan et al. BMC medical genomics 2021 14(1) 61
Birth Defects Surveillance Readiness Assessment Tool
Public Health Informatics Institute, February 2021
TOP