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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]>> Birth Defects/Child Health[Category]
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.
Sarah U Morton et al. JAMA network open 2023 6(1) e2253191
Infant Low Birth Weight Prediction Using Graph Embedding Features.
Wasif Khan et al. International journal of environmental research and public health 2023 20(2)
ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1.
Charlotte Carton et al. EClinicalMedicine 2023 56101818
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Balachander Kannan et al. Journal of pediatric genetics 2023 12(1) 1-15
Early detection of visual impairment in young children using a smartphone-based deep learning system.
Wenben Chen et al. Nature medicine 2023
Risk of Sudden Infant Death Syndrome Among Siblings of Children Who Died of Sudden Infant Death Syndrome in Denmark.
Charlotte Glinge et al. JAMA network open 2023 6(1) e2252724
Duchenne Muscular Dystrophy in Kazakhstan: A Journey from Diagnosis to the Treatment, the Biases and Achievements.
Jaxybayeva Altynshash et al. Journal of neuromuscular diseases 2023
Implications for Prenatal Genetic Testing in the United States after the Reversal of Roe v Wade.
Raymond Megan B et al. Obstetrics and gynecology 2023
RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder.
Tomaiuolo Pasquale et al. Scientific reports 2023 13(1) 807
Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.
Bupp Caleb P et al. Children (Basel, Switzerland) 2023 10(1)
A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.
Mollataheri Ali et al. Nephron 2023 1-8
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.
Viggiano Emanuela et al. Genes 2023 14(1)
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker Jordy et al. American journal of human genetics 2023
Pain Characteristics and Symptom Management in Children with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder.
Jeong Hyo-Jung et al. Physical & occupational therapy in pediatrics 2023 1-14
Assessment of Retinopathy of Prematurity Regression and Reactivation Using an Artificial Intelligence-Based Vascular Severity Score.
Eilts Sonja K et al. JAMA network open 2023 6(1) e2251512
Predicting Childhood Obesity Based on Single and Multiple Well-Child Visit Data Using Machine Learning Classifiers.
Mondal Pritom Kumar et al. Sensors (Basel, Switzerland) 2023 23(2)
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Wigby Kristen et al. American journal of medical genetics. Part A 2023
Designing an international survey for organisations serving people with Down syndrome.
Kats Daniel J et al. Journal of applied research in intellectual disabilities : JARID 2023
Brazilian Multiethnic Association Study of Genetic Variant Interactions among FOS, CASP8, MMP2 and CRISPLD2 in the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate.
Machado Renato Assis et al. Dentistry journal 2023 11(1)
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Lenassi Eva et al. Journal of medical genetics 2023
Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.
Riza Anca-Lelia et al. Genes 2023 14(1)
Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
Clabout Thomas et al. Genes 2023 14(1)
Novel Approach to Improve the Identification of the Bleeding Phenotype in Noonan Syndrome and Related RASopathies.
Bruno Leah et al. The Journal of pediatrics 2023
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results.
Forsythe Elizabeth et al. Orphanet journal of rare diseases 2023 18(1) 12
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo Tiziano et al. Orphanet journal of rare diseases 2023 18(1) 13
Public meeting: FDA Rare Disease Day 2023
FDA, January 2023
"I am not a number!" Opinions and preferences of people with intellectual disability about genetic healthcare.
Strnadová Iva et al. European journal of human genetics : EJHG 2023
Exploring Autistic adults' perspectives on genetic testing for autism.
Byres Loryn et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100021
Wearables and AI better predict the progression of muscular dystrophy
Nature Medicine, January 20, 2023
Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy.
Ricotti Valeria et al. Nature medicine 2023
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