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Public Health Genomics and Precision Health Knowledge Base (v8.2)
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all[original query]>>Original Studies[Product Type]
OB HUB: Remote Electronic Fetal Monitoring Surveillance.
Deb Lowery et al. MCN. The American journal of maternal child nursing 2023
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The Deterioration Risk Index: Developing and Piloting a Machine Learning Algorithm to Reduce Pediatric Inpatient Deterioration.
Laura O H Rust et al. Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 2023
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Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.
Jette J Bakhuizen et al. JAMA network open 2023 6(2) e2254157
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Landscape of pathogenic mutations in premature ovarian insufficiency.
Hanni Ke et al. Nature medicine 2023
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Black and Latinx Primary Caregiver Considerations for Developing and Implementing a Machine Learning-Based Model for Detecting Child Abuse and Neglect With Implications for Racial Bias Reduction: Qualitative Interview Study With Primary Caregivers.
Aviv Y Landau et al. JMIR formative research 2023 7e40194
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Renal Genetics Clinic: 3-Year Experience in the Cleveland Clinic.
Xin Yee Tan et al. Kidney medicine 2023 5(2) 100585
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The emotional experience of mothers of children with haemophilia: maternal guilt, effective coping strategies and resilience within the haemophilia community.
Nina Sheridan et al. Haemophilia : the official journal of the World Federation of Hemophilia 2023
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Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndrome.
Sarah M Lyle et al. Journal of human genetics 2023
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Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study
TS Hartwig et al, The Lancet, February 2, 2023
Germline genetic mutations in pediatric cerebrovascular anomalies: a multidisciplinary approach to screening, testing, and management.
Melissa A LoPresti et al. Journal of neurosurgery. Pediatrics 2023 1-9
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Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.
Qiaowei Liang et al. Clinical chemistry 2023
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Clinical outcomes of subtypes of mosaic single aneuploid embryos after preimplantation genetic testing for aneuploidy.
Ying Wang et al. Journal of assisted reproduction and genetics 2023
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Estrogen Receptor Genes, Cognitive Decline, and Alzheimer Disease.
Shahram Oveisgharan et al. Neurology 2023
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Aneuploidy screening after preimplantation genetic testing: a national survey of physician knowledge and practice.
Lisa McNamee et al. Journal of assisted reproduction and genetics 2023
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Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Maayan Kagan et al. Frontiers in genetics 2023 131018062
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Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience.
Xiaoqing Wu et al. BMC pregnancy and childbirth 2023 23(1) 73
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Exploring telediagnostic procedures in child neuropsychiatry: addressing ADHD diagnosis and autism symptoms through supervised machine learning.
Silvia Grazioli et al. European child & adolescent psychiatry 2023 1-11
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Quantifying the Severity of Metopic Craniosynostosis Using Unsupervised Machine Learning.
Erin E Anstadt et al. Plastic and reconstructive surgery 2023 151(2) 396-403
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Deep learning system to predict the 5-year risk of high myopia using fundus imaging in children.
Li Lian Foo et al. NPJ digital medicine 2023 6(1) 10
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A Bayesian network model for prediction of low or failed fertilization in assisted reproductive technology based on a large clinical real-world data.
Tian Tian et al. Reproductive biology and endocrinology : RB&E 2023 21(1) 8
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Distinguishing Exposure to Secondhand and Thirdhand Tobacco Smoke among U.S. Children Using Machine Learning: NHANES 2013-2016.
Ashley L Merianos et al. Environmental science & technology 2023
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Predicting no-show appointments in a pediatric hospital in Chile using machine learning.
J Dunstan et al. Health care management science 2023
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Novel AI-Based Algorithm for the Automated Computation of Coronal Parameters in Adolescent Idiopathic Scoliosis Patients: A Validation Study on 100 Preoperative Full Spine X-Rays.
Clara Berlin et al. Global spine journal 2023 21925682231154543
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Utilisation of exome sequencing for muscular disorders in Thai paediatric patients: diagnostic yield and mutational spectrum.
Sarinya Summa et al. Scientific reports 2023 13(1) 1376
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Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
Eleonora Bonaventura et al. Frontiers in neurology 2023 131072256
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The genomic landscape of rare disorders in the Middle East.
Maha El Naofal et al. Genome medicine 2023 15(1) 5
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Inflammatory status in pediatric sickle cell disease: Unravelling the role of immune cell subsets.
Silvio Marchesani et al. Frontiers in molecular biosciences 2023 91075686
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Sickle Cell Anaemia among Tharu Population Visiting the Outpatient Department of General Medicine in a Secondary Care Centre: A Descriptive Cross-sectional Study.
Subhash Pandey et al. JNMA; journal of the Nepal Medical Association 2023 60(253) 774-776
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DNA methylation signature classification of rare disorders using publicly available methylation data.
Mathis Hildonen et al. Clinical genetics 2023
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An automatic facial landmarking for children with rare diseases.
Quentin Hennocq et al. American journal of medical genetics. Part A 2023
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Page last reviewed:
Feb 1, 2023
Page last updated:
Feb 09, 2023
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