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Precision Health Database


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Reproductive and Child Health

Last data update: Jun 25, 2022. (Total: 47911 Documents since 2012)
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Query Trace: Newborn Screening[original query]>>Original Studies[Product Type]
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Wilhelm Kevin et al. Frontiers in genetics 2022 13859837
Improving Harmonization and Standardization of Expanded Newborn Screening Results by Optimization of the Legacy Flow Injection Analysis Tandem Mass Spectrometry Methods and Application of a Standardized Calibration Approach.
Carling Rachel S et al. Clinical chemistry 2022
Expanded newborn bloodspot screening: developed country examples and what can be done in Turkey.
Fidan Çaglar et al. Intractable & rare diseases research 2022 11(2) 63-69
Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening.
Dangouloff Tamara et al. Developmental medicine and child neurology 2022
Five-year performance analysis of a cystic fibrosis newborn screening program in northeastern Brazil.
Godoy Carolina et al. Jornal de pediatria 2022
A Custom-Made Newborn Screening Test for Wilson's Disease in Puerto Rico.
Vicario-Feliciano Raquel et al. Cureus 2022 14(4) e24446
Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs.
Bush Lynn et al. International journal of neonatal screening 2022 8(2)
Education and Consent for Population-Based DNA Screening: A Mixed-Methods Evaluation of the Early Check Newborn Screening Pilot Study.
Peay Holly L et al. Frontiers in genetics 2022 13891592
A Public Dialogue to Inform the Use of Wider Genomic Testing When Used as Part of Newborn Screening to Identify Cystic Fibrosis.
Kinsella Suzannah et al. International journal of neonatal screening 2022 8(2)
Introducing Newborn Screening for Severe Combined Immunodeficiency-The New Zealand Experience.
Heather Natasha et al. International journal of neonatal screening 2022 8(2)
Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
Alcaide Patricia et al. Journal of clinical medicine 2022 11(10)
Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.
Fortin Carol-Ann et al. Frontiers in endocrinology 2022 13887371
Are We Ready for Newborn Genetic Screening? A Cross-Sectional Survey of Healthcare Professionals in Southeast China.
Wu Xian et al. Frontiers in pediatrics 2022 10875229
Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study.
Armstrong Brittan et al. Frontiers in genetics 2022 13867371
Incorporation of second-tier tests and secondary biomarkers to improve positive predictive value (PPV) rate in newborn metabolic screening program.
Younesi Sarang et al. Journal of clinical laboratory analysis 2022 e24471
SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
Barreiros Lucila Akune et al. Journal of clinical immunology 2022
Prevalence of Hemoglobin-S and Baseline Level of Knowledge on Sickle Cell Disease Among Pregnant Women Attending Antenatal Clinics in Dar-Es-Salaam, Tanzania.
Tutuba Hilda J et al. Frontiers in genetics 2022 13805709
Lessons Learned from Five Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Israel.
Lev Atar et al. The journal of allergy and clinical immunology. In practice 2022
Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening.
Martella Maddalena et al. Frontiers in pediatrics 2022 10826262
Need and Viability of Newborn Screening Programme in India: Report from a Pilot Study.
Raveendran Arya et al. International journal of neonatal screening 2022 8(2)
Parents' Experiences and Needs Regarding Infant Sickle Cell Trait Results.
Sims Alexandra M et al. Pediatrics 2022
'We're kind of like genetic nomads': Parents' experiences of biographical disruption and uncertainty following in/conclusive results from newborn cystic fibrosis screening.
Boardman Felicity et al. Social science & medicine (1982) 2022 301114972
Evaluation of the Suitability of Dried Saliva Spots for In-Depth Proteome Analyses for Clinical Applications.
Sato Hironori et al. Journal of proteome research 2022
Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population.
Powell Sabrina N et al. Frontiers in genetics 2022 13867030
DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.
Ngole Mamy et al. Journal of clinical laboratory analysis 2022 e24398
Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia.
Khan Adbul Rafiq et al. Annals of Saudi medicine 2022 42(2) 107-118
Pain points in parents' interactions with newborn screening systems: a qualitative study.
Conway Mike et al. BMC pediatrics 2022 22(1) 167
Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living.
Randall Jason A et al. Orphanet journal of rare diseases 2022 17(1) 138
20 YEARS OF NEONATAL SCREENING FOR CONGENITAL ADRENAL HYPERPLASIA IN NORTH-EASTERN ITALY: ROLE OF LC-MS/MS AS A SECOND TIER TEST.
Cavarzere Paolo et al. Hormone research in paediatrics 2022
Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead.
Veldman Abigail et al. International journal of neonatal screening 2022 8(1)
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