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Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Last data update: Jan 28, 2023. (Total: 52318 Documents since 2012)
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Query Trace: all[original query]>>Newborn Screening[Category]
Validation of a targeted metabolomics panel for improved second-tier newborn screening.
Mak Justin et al. Journal of inherited metabolic disease 2023
A comprehensive study of mutations in PAH, QDPR, PTS, and PCD genes in Iranian patients with Hyperphenylalaninemia; A systematic review.
Ghanei Mahmoud et al. Human heredity 2023
Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study.
Kariyawasam Didu S et al. The Lancet. Child & adolescent health 2023
Newborn Screening Long-Term Follow-Up Clinics (Continuity Clinics) in the Philippines during the COVID-19 Pandemic: Continuing Quality Patient Care.
Maceda Ebner Bon G et al. International journal of neonatal screening 2023 9(1)
Surveillance for the Rare Condition of Sickle Cell Disease in Wisconsin.
Singh Ashima et al. WMJ : official publication of the State Medical Society of Wisconsin 2023 121(4) 297-300
The Importance of Neonatal Screening for Galactosemia.
Badiu Ti?a Ioana et al. Nutrients 2023 15(1)
Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening.
Kölbel Heike et al. Children (Basel, Switzerland) 2022 9(12)
Rapid Targeted Genomic Testing: A Powerful Tool for Diagnostic Evaluation of Critically Ill Neonates and Infants With Suspected Genetic Diseases.
Jang Mi-Ae et al. Annals of laboratory medicine 2022 43(3) 223-224
Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis.
Ngan Olivia M Y et al. International journal of neonatal screening 2022 8(4)
Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.
Markova Tatiana et al. Journal of personalized medicine 2022 12(11)
Neonatal Screening for Sickle Cell Disease in Western Andalusia: Results and Lessons Learnt after 3 Years of Implementation.
Núñez-Jurado David et al. American journal of perinatology 2022
Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study.
Toktas Izzettin et al. The Turkish journal of pediatrics 2022 64(6) 985-992
Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America.
Giugliani Roberto et al. Frontiers in genetics 2022 131053559
Evaluation of specificity and sensitivity of IRT/IRT protocol in the cystic fibrosis newborn screening program: 6-year experience of three tertiary centers.
Ramasli Gursoy Tugba et al. European journal of pediatrics 2022
Newborn genetic testing in the United States and access to needed specialist care, National Survey of Children's Health, 2020: A cross-sectional study.
Wiener R Constance et al. PloS one 2022 17(12) e0279352
Addition of Galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas Suha et al. Journal of inherited metabolic disease 2022
Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening.
Pierpont Elizabeth I et al. Journal of inherited metabolic disease 2022
High rates of anxiety detected in mothers of children with inconclusive cystic fibrosis screening results.
Ginsburg Daniella K et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022
Variation in Cystic Fibrosis Newborn Screening Algorithms in the United States.
Rehani Maryann R et al. Pediatric pulmonology 2022
The modern face of newborn screening.
Chien Yin-Hsiu et al. Pediatrics and neonatology 2022
Cost-effectiveness of newborn screening for phenylketonuria and congenital hypothyroidism.
Appelberg Kajsa et al. The Journal of pediatrics 2022
Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany.
Müller-Felber Wolfgang et al. Journal of neuromuscular diseases 2022
Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States.
Ream Margie A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Assessing the Content Quality of Online Parental Resources about Newborn Metabolic Disease Screening: A Content Analysis
OMY Ngan et al, IJNS, November 30, 2022
German Newborn Screening for Cystic Fibrosis - Parental perspectives and suggestions for improvements.
Gapp Simon et al. Pediatric pulmonology 2022
REFINEMENT OF NEWBORN SCREENING FOR CYSTIC FIBROSIS WITH NEXT GENERATION SEQUENCING.
Rock Michael J et al. Pediatric pulmonology 2022
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors.
Kharrazi Martin et al. International journal of neonatal screening 2022 8(4)
Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders.
Boychuk Natalie A et al. International journal of neonatal screening 2022 8(4)
Experience of a 2-year spinal muscular atrophy NBS pilot study in Italy: towards specific guidelines and standard operating procedures for the molecular diagnosis.
Abiusi Emanuela et al. Journal of medical genetics 2022
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.
Farrar Michelle A et al. Journal of neuromuscular diseases 2022
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