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Genomics and Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB
Last data update: Dec 28, 2020. (Total: 37862 Documents since 2012)
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Records 1-30 (of 3839 Record(s))
Query Trace: all[original query]>>Translation/Implementation Studies[Product Type]
Publication
A Genomic-Pathologic Annotated Risk Model to Predict Recurrence in Early-Stage Lung Adenocarcinoma
GD Jones et al JAMA SUregery, December 23, 2020
Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene.
Sanoguera-Miralles Lara et al. Cancers 2020 Dec 12(12)
Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.
Abdel-Wahab Reham et al. Scientific reports 2020 Dec 10(1) 22087
Screening of IRF6 Variants in Patients Subjected to Genetic Association Studies for Nonsyndromic Cleft Lip/Palate.
Velázquez-Aragón José A et al. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2020 Dec 1055665620980238
Chest x-ray analysis with deep learning-based software as a triage test for pulmonary tuberculosis: a prospective study of diagnostic accuracy for culture-confirmed disease.
Khan Faiz Ahmad et al. The Lancet. Digital health 2020 Nov 2(11) e573-e581
[Evaluation and perspective of 20 years of neonatal screening in Galicia. Program results.]
Sánchez Pintos Paula et al. Revista espanola de salud publica 2020 Dec 94
[Results of the neonatal screening on Western Andalusia after a decade of experience.]
Delgado-Pecellín Carmen et al. Revista espanola de salud publica 2020 Dec 94
[Response of the Catalonia neonatal screening laboratory to the pandemic of SARS-CoV-2.]
Argudo Ramírez Ana et al. Revista espanola de salud publica 2020 Dec 94
[Impact of the inclusion of second-tier tests in the newborn screening program of Catalonia and in other international programs.]
Pajares García Sonia et al. Revista espanola de salud publica 2020 Dec 94
[The role of Public Health as a key to the success of the neonatal screening program in the Basque Country.]
Espada Sáenz-Torre Mercedes et al. Revista espanola de salud publica 2020 Dec 94
[50 years of the Neonatal Screening Program in Catalonia.]
Marín Soria Jose Luis et al. Revista espanola de salud publica 2020 Dec 94
[First universal newborn screening program for severe combined immunodeficiency in Europe. Three-years' experience in Catalonia.]
Argudo Ramírez Ana et al. Revista espanola de salud publica 2020 Dec 94
Genetic Association between Hypoplastic Left Heart Syndrome and Cardiomyopathies.
Theis Jeanne L et al. Circulation. Genomic and precision medicine 2020 Dec
Oncology and Pharmacogenomics Insights in Polycystic Ovary Syndrome: An Integrative Analysis.
Yumiceba Verónica et al. Frontiers in endocrinology 2020 11585130
Immune Reconstitution After Gene Therapy Approaches in Patients With X-Linked Severe Combined Immunodeficiency Disease.
Blanco Elena et al. Frontiers in immunology 2020 11608653
Mutational Spectrum of CAPN3 with Genotype-Phenotype Correlations in Limb Girdle Muscular Dystrophy Type 2A/R1 (LGMD2A/LGMDR1) patients in India.
Pathak Pankaj et al. Journal of neuromuscular diseases 2020 Dec
Hemoglobin Disorders Among Anemic Patients: a Cross-Sectional Study from Jeddah City, Western Saudi Arabia.
Alzahrani Majed et al. Clinical laboratory 2020 Dec 66(12)
Revisiting the metallothionein genes polymorphisms and the risk of oral squamous cell carcinoma in a Brazilian population.
Rosa R-R et al. Medicina oral, patologia oral y cirugia bucal 2020 Dec
Mapping routine measles vaccination in low- and middle-income countries
Local Burden of Disease, Nature, December 2020
Artificial intelligence in dentistry: Harnessing big data to predict oral cancer survival.
Hung Man et al. World journal of clinical oncology 2020 Nov 11(11) 918-934
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
Eratne Dhamidhu et al. Journal of the neurological sciences 2020 Dec 420117260
Processing of positive newborn screening results: a qualitative exploration of current practice in England.
Chudleigh Jane et al. BMJ open 2020 Dec 10(12) e044755
High frequency of biotinidase deficiency in Italian population identified by newborn screening.
Funghini Silvia et al. Molecular genetics and metabolism reports 2020 Dec 25100689
Growth, Body Composition, and Lung Function in Prepubertal Children with Cystic Fibrosis Diagnosed by Newborn Screening.
Owen Elizabeth et al. Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition 2020 Dec
Pharmacogenetic Study of Trabectedin-Induced Severe Hepatotoxicity in Patients with Advanced Soft Tissue Sarcoma.
Maillard Maud et al. Cancers 2020 Dec 12(12)
Genetic variants associated with therapy-related cardiomyopathy among childhood cancer survivors of African ancestry.
Sapkota Yadav et al. Cancer research 2020 Dec
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Tønne Elin et al. European journal of human genetics : EJHG 2020 Dec
Assessing the Role of Rare Genetic Variation in Patients With Heart Failure.
Povysil Gundula et al. JAMA cardiology 2020 Dec
Machine learning can predict disease manifestations and outcomes in lymphangioleiomyomatosis.
Chernbumroong Saisakul et al. The European respiratory journal 2020 Dec
Neural-Network-Based Diagnosis Using 3-Dimensional Myocardial Architecture and Deformation: Demonstration for the Differentiation of Hypertrophic Cardiomyopathy.
Satriano Alessandro et al. Frontiers in cardiovascular medicine 2020 7584727
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