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Attitudes among Parents towards Return of Disease-Related Polygenic Risk Scores (PRS) for Their Children.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 12, p. 1945, doi. 10.3390/jpm12121945
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- Publication type:
- Article
Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 11, p. 1910, doi. 10.3390/jpm12111910
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- Publication type:
- Article
Preferences for Updates on General Research Results: A Survey of Participants in Genomic Research from Two Institutions.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 5, p. 399, doi. 10.3390/jpm11050399
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- Publication type:
- Article
Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network.
- Published in:
- Journal of Personalized Medicine, 2020, v. 10, n. 2, p. 38, doi. 10.3390/jpm10020038
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- Publication type:
- Article
Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network.
- Published in:
- Journal of Personalized Medicine, 2020, v. 10, n. 2, p. 30, doi. 10.3390/jpm10020030
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- Publication type:
- Article
Adrenal Insufficiency in Mitochondrial Disease.
- Published in:
- 2016
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- Publication type:
- Case Study
Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression.
- Published in:
- Journal of Genetic Counseling, 2022, v. 31, n. 1, p. 218, doi. 10.1002/jgc4.1475
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- Publication type:
- Article
Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.
- Published in:
- Journal of Genetic Counseling, 2018, v. 27, n. 5, p. 1087, doi. 10.1007/s10897-018-0228-6
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- Publication type:
- Article
Comment on "Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients".
- Published in:
- 2009
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- Publication type:
- commentary
The role of sodium channels in sudden unexpected death in pediatrics.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 8, p. 1, doi. 10.1002/mgg3.1309
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- Publication type:
- Article
Returning negative results from large‐scale genomic screening: Experiences from the eMERGE III network.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 508, doi. 10.1002/ajmg.a.62002
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- Publication type:
- Article
A clinician's guide to X-linked hypophosphatemia.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 7, p. 1381, doi. 10.1002/jbmr.340
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- Publication type:
- Article
Bone Disease in Thalassemia: A Frequent and Still Unresolved Problem.
- Published in:
- Journal of Bone & Mineral Research, 2009, v. 24, n. 3, p. 543
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- Publication type:
- Article
The State of Pediatric Bone: Summary of the ASBMR Pediatric Bone Initiative.
- Published in:
- Journal of Bone & Mineral Research, 2005, v. 20, n. 12, p. 2075, doi. 10.1359/JBMR.050901
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- Publication type:
- Article
Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing.
- Published in:
- 2014
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- Publication type:
- journal article
Impact of an Electronic Template on Documentation of Obesity in a Primary Care Clinic.
- Published in:
- Clinical Pediatrics, 2016, v. 55, n. 12, p. 1152, doi. 10.1177/0009922815621331
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- Publication type:
- Article
A GWAS Study on Liver Function Test Using eMERGE Network Participants.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138677
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- Publication type:
- Article
Characteristics and Predictive Value of Blood Transcriptome Signature in Males with Autism Spectrum Disorders.
- Published in:
- PLoS ONE, 2012, v. 7, n. 12, p. 1, doi. 10.1371/journal.pone.0049475
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- Publication type:
- Article
Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 8, p. 3889, doi. 10.1210/jcem.86.8.7761
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- Publication type:
- Article
Mutational Analysis of PHEX Gene in X-Linked Hypophosphatemia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 10, p. 3615, doi. 10.1210/jcem.83.10.5180
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- Publication type:
- Article
Children's rare disease cohorts: an integrative research and clinical genomics initiative.
- Published in:
- NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-0137-0
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- Publication type:
- Article
FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation.
- Published in:
- NPJ Genomic Medicine, 2019, v. 4, n. 1, p. 1, doi. 10.1038/s41525-019-0105-8
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- Publication type:
- Article
Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs.
- Published in:
- Healthcare (2227-9032), 2018, v. 6, n. 3, p. 83, doi. 10.3390/healthcare6030083
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- Publication type:
- Article
Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis.
- Published in:
- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00401
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- Publication type:
- Article
Proximal tibial pain in a child.
- Published in:
- 2013
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- Publication type:
- Editorial
Proximal tibial pain in a child.
- Published in:
- 2013
- By:
- Publication type:
- Editorial
Proximal tibial pain in a child.
- Published in:
- Skeletal Radiology, 2013, v. 42, n. 3, p. 1, doi. 10.1007/s00256-013-1592-9
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- Publication type:
- Article
Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.
- Published in:
- Advanced Genetics, 2023, v. 4, n. 1, p. 1, doi. 10.1002/ggn2.202200012
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- Publication type:
- Article
Perspectives of Rare Disease Experts on Newborn Genome Sequencing.
- Published in:
- JAMA Network Open, 2023, v. 6, n. 5, p. e2312231, doi. 10.1001/jamanetworkopen.2023.12231
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- Publication type:
- Article
Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study.
- Published in:
- Journal of the American Medical Informatics Association, 2024, v. 31, n. 2, p. 306, doi. 10.1093/jamia/ocad207
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- Publication type:
- Article
Enrichment sampling for a multi-site patient survey using electronic health records and census data.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
- Published in:
- 2021
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- Publication type:
- journal article
The Unrecognized Mortality Burden of Genetic Disorders in Infancy.
- Published in:
- American Journal of Public Health, 2021, v. 111, p. S156, doi. 10.2105/AJPH.2021.306275
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- Publication type:
- Article
Inconsistent classification of unexplained sudden deaths in infants and children hinders surveillance, prevention and research: recommendations from The 3rd International Congress on Sudden Infant and Child Death.
- Published in:
- Forensic Science, Medicine & Pathology, 2019, v. 15, n. 4, p. 622, doi. 10.1007/s12024-019-00156-9
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- Publication type:
- Article
<italic>SCN1A</italic> variants associated with sudden infant death syndrome.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 4, p. e56, doi. 10.1111/epi.14055
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- Publication type:
- Article
The BabySeq project: implementing genomic sequencing in newborns.
- Published in:
- 2018
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- Publication type:
- journal article
Placebo‐controlled crossover assessment of mecasermin for the treatment of Rett syndrome.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 323, doi. 10.1002/acn3.533
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- Publication type:
- Article
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
- Published in:
- Genome Biology, 2014, v. 15, n. 2, p. R53, doi. 10.1186/gb-2014-15-3-r53
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- Publication type:
- Article
Radiation and reaction at one loop.
- Published in:
- Journal of High Energy Physics, 2024, v. 2024, n. 7, p. 1, doi. 10.1007/JHEP07(2024)272
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- Publication type:
- Article
Addendum to: Inelastic exponentiation and classical gravitational scattering at one loop.
- Published in:
- Journal of High Energy Physics, 2024, v. 2024, n. 2, p. 1, doi. 10.1007/JHEP02(2024)161
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- Publication type:
- Article
Inelastic exponentiation and classical gravitational scattering at one loop.
- Published in:
- Journal of High Energy Physics, 2023, v. 2023, n. 6, p. 1, doi. 10.1007/JHEP06(2023)126
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- Publication type:
- Article
Extracting Einstein from the loop-level double-copy.
- Published in:
- Journal of High Energy Physics, 2021, v. 2021, n. 11, p. 1, doi. 10.1007/JHEP11(2021)088
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- Publication type:
- Article
Recontacting Pediatric Research Participants for Consent When They Reach the Age of Majority.
- Published in:
- IRB: Ethics & Human Research, 2016, v. 38, n. 6, p. 1
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- Publication type:
- Article
Using Newborn Sequencing to Advance Understanding of the Natural History of Disease.
- Published in:
- Hastings Center Report, 2018, v. 48, p. S45, doi. 10.1002/hast.886
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- Publication type:
- Article
Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial.
- Published in:
- JAMA Pediatrics, 2021, v. 175, n. 11, p. 1132, doi. 10.1001/jamapediatrics.2021.2829
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- Publication type:
- Article
Recurrent Hypothermia and Thrombocytopenia After Severe Neonatal Brain Infection.
- Published in:
- Clinical Pediatrics, 1988, v. 27, n. 7, p. 326, doi. 10.1177/000992288802700703
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- Publication type:
- Article
Xsec: the cross-section evaluation code.
- Published in:
- European Physical Journal C -- Particles & Fields, 2020, v. 80, n. 12, p. 1, doi. 10.1140/epjc/s10052-020-08635-y
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- Publication type:
- Article
Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study.
- Published in:
- PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0153597
- By:
- Publication type:
- Article
Enhancing Autonomy in Biobank Decisions: Too Much of a Good Thing?
- Published in:
- Journal of Empirical Research on Human Research Ethics, 2018, v. 13, n. 2, p. 125, doi. 10.1177/1556264617753483
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- Publication type:
- Article
Preferences for the Return of Individual Results From Research on Pediatric Biobank Samples.
- Published in:
- Journal of Empirical Research on Human Research Ethics, 2017, v. 12, n. 2, p. 97, doi. 10.1177/1556264617697839
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- Publication type:
- Article