Works matching DE "MEDICAL genomics"
Results: 477
Enhancer biology and enhanceropathies.
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- Nature Structural & Molecular Biology, 2014, v. 21, n. 3, p. 210, doi. 10.1038/nsmb.2784
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- Publication type:
- Article
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
- Published in:
- 2021
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- Publication type:
- journal article
Regulatory Landscape of International Direct-to-Participant (DTP) Genomic Research: Time to Untie the Gordian Knot?
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- Journal of Law, Medicine & Ethics, 2019, v. 47, n. 2, p. 336, doi. 10.1177/1073110519857291
- Publication type:
- Article
Thought Leader Perspectives on Participant Protections in Precision Medicine Research.
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- Journal of Law, Medicine & Ethics, 2019, v. 47, n. 1, p. 134, doi. 10.1177/1073110519840493
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- Publication type:
- Article
Whose Commons? Data Protection as a Legal Limit of Open Science.
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- Journal of Law, Medicine & Ethics, 2019, v. 47, n. 1, p. 106, doi. 10.1177/1073110519840489
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- Publication type:
- Article
What is a Medical Information Commons?
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- Journal of Law, Medicine & Ethics, 2019, v. 47, n. 1, p. 41, doi. 10.1177/1073110519840483
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- Publication type:
- Article
Genomic Data-Sharing Practices.
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- Journal of Law, Medicine & Ethics, 2019, v. 47, n. 1, p. 31, doi. 10.1177/1073110519840482
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- Article
Characterizing the Biomedical Data-Sharing Landscape.
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- Journal of Law, Medicine & Ethics, 2019, v. 47, n. 1, p. 21, doi. 10.1177/1073110519840481
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- Publication type:
- Article
Importance of Participant-Centricity and Trust for a Sustainable Medical Information Commons.
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- Journal of Law, Medicine & Ethics, 2019, v. 47, n. 1, p. 12, doi. 10.1177/1073110519840480
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- Publication type:
- Article
Genomic Research with the Newly Dead: A Crossroads for Ethics and Policy.
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- Journal of Law, Medicine & Ethics, 2014, v. 42, n. 2, p. 220, doi. 10.1111/jlme.12137
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- Publication type:
- Article
Drug-induced metabolic syndrome hasn't associations with 5-HT receptor genes polymorphisms in patients with schizophrenia.
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- European Psychiatry, 2021, v. 64, p. S383, doi. 10.1192/j.eurpsy.2021.1027
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- Publication type:
- Article
Determination of Pathogenicity of Breast Cancer 1 Gene Variants using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines.
- Published in:
- Sultan Qaboos University Medical Journal, 2019, v. 19, n. 4, p. e324, doi. 10.18295/squmj.2019.19.04.008
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- Publication type:
- Article
Clinical/Demographic Functional Testing and Multimodal Imaging Differences between Genetically Solved and Unsolved Retinitis Pigmentosa.
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- Ophthalmologica, 2022, v. 245, n. 2, p. 134, doi. 10.1159/000520305
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- Publication type:
- Article
Response to peer commentaries.
- Published in:
- Journal of Law & the Biosciences, 2015, v. 2, n. 2, p. 445, doi. 10.1093/jlb/lsv016
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- Publication type:
- Article
Three Grand Challenges in High Throughput Omics Technologies.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 9, p. 1238, doi. 10.3390/biom12091238
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- Publication type:
- Article
Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.
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- Biomolecules (2218-273X), 2022, v. 12, n. 8, p. 1043, doi. 10.3390/biom12081043
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- Publication type:
- Article
Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.
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- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1253867
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- Publication type:
- Article
Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network.
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- Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01059
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- Publication type:
- Article
DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features.
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- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37661-z
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- Publication type:
- Article
Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.
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- Biology of Sex Differences, 2024, v. 15, n. 1, p. 1, doi. 10.1186/s13293-024-00648-6
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- Publication type:
- Article
Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.
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- Genes, 2024, v. 15, n. 12, p. 1612, doi. 10.3390/genes15121612
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- Publication type:
- Article
Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies.
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- Genes, 2024, v. 15, n. 8, p. 973, doi. 10.3390/genes15080973
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- Publication type:
- Article
Compilation of Genotype and Phenotype Data in GCDH -LOVD for Variant Classification and Further Application.
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- Genes, 2023, v. 14, n. 12, p. 2218, doi. 10.3390/genes14122218
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- Publication type:
- Article
Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.
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- Genes, 2023, v. 14, n. 10, p. 1958, doi. 10.3390/genes14101958
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- Publication type:
- Article
Clinical and Genetic Features of NR2E3 -Associated Retinopathy: A Report of Eight Families with a Longitudinal Study and Literature Review.
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- Genes, 2023, v. 14, n. 8, p. 1525, doi. 10.3390/genes14081525
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- Publication type:
- Article
Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts.
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- Genes, 2023, v. 14, n. 3, p. 608, doi. 10.3390/genes14030608
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- Publication type:
- Article
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
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- Genes, 2023, v. 14, n. 2, p. 443, doi. 10.3390/genes14020443
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- Publication type:
- Article
Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.
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- Genes, 2022, v. 13, n. 8, p. 1369, doi. 10.3390/genes13081369
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- Publication type:
- Article
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.
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- Genes, 2022, v. 13, n. 7, p. 1252, doi. 10.3390/genes13071252
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- Publication type:
- Article
CDH1 Germline Variants in a Tunisian Cohort with Hereditary Diffuse Gastric Carcinoma.
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- Genes, 2022, v. 13, n. 3, p. 400, doi. 10.3390/genes13030400
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- Publication type:
- Article
Evaluation of Glycogen Storage Patients: Report of Twelve Novel Variants and New Clinical Findings in a Turkish Population.
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- Genes, 2021, v. 12, n. 12, p. 1987, doi. 10.3390/genes12121987
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- Publication type:
- Article
Identification and Computational Analysis of Rare Variants of Known Hearing Loss Genes Present in Five Deaf Members of a Pakistani Kindred.
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- Genes, 2021, v. 12, n. 12, p. 1940, doi. 10.3390/genes12121940
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- Publication type:
- Article
BRCA1/2 NGS Somatic Testing in Clinical Practice: A Short Report.
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- Genes, 2021, v. 12, n. 12, p. 1917, doi. 10.3390/genes12121917
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- Publication type:
- Article
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
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- Genes, 2021, v. 12, n. 8, p. 1275, doi. 10.3390/genes12081275
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- Publication type:
- Article
Autosomal Recessive Retinitis Pigmentosa Associated with Three Novel REEP6 Variants in Chinese Population.
- Published in:
- Genes, 2021, v. 12, n. 4, p. 537, doi. 10.3390/genes12040537
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- Publication type:
- Article
Phenylketonuria Diagnosis by Massive Parallel Sequencing and Genotype-Phenotype Association in Brazilian Patients.
- Published in:
- Genes, 2021, v. 12, n. 1, p. 20, doi. 10.3390/genes12010020
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- Publication type:
- Article
Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1467, doi. 10.3390/genes11121467
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- Publication type:
- Article
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
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- Genes, 2020, v. 11, n. 10, p. 1123, doi. 10.3390/genes11101123
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- Publication type:
- Article
Novel Mutations in CLPP, LARS2, CDH23, and COL4A5 Identified in Familial Cases of Prelingual Hearing Loss.
- Published in:
- Genes, 2020, v. 11, n. 9, p. 978, doi. 10.3390/genes11090978
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- Publication type:
- Article
Aberrant Splicing of COL4A5 Intronic Variant Contribute to the Pathogenesis of X-Linked Alport Syndrome: A Case Series.
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- International Journal of Nephrology & Renovascular Disease, 2024, v. 17, p. 167, doi. 10.2147/IJNRD.S459363
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- Publication type:
- Article
College of American Pathologists & American College of Medical Genetics and Genomics Representation.
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- Journal of the Association of Genetic Technologists, 2024, v. 50, n. 1, p. 34
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- Publication type:
- Article
Board of Directors and Council of Representatives.
- Published in:
- Journal of the Association of Genetic Technologists, 2023, v. 49, n. 3, p. 149
- Publication type:
- Article
What Do the Council of Representatives Do for You?
- Published in:
- Journal of the Association of Genetic Technologists, 2022, v. 48, n. 1, p. 41
- Publication type:
- Article
ASSOCIATION OF GENETIC TECHNOLOGISTS 46<sup>th</sup> ANNUAL BUSINESS MEETING MINUTES: Monday, June 28, 2021 Louisville, Kentucky 10:30 a.m. - 11:30 a.m. (ET).
- Published in:
- Journal of the Association of Genetic Technologists, 2021, v. 47, n. 3, p. 144
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- Publication type:
- Article
Outgoing Council of Representative Members.
- Published in:
- Journal of the Association of Genetic Technologists, 2021, v. 47, n. 3, p. 150
- Publication type:
- Article
Outstanding Achievement Award Introduction.
- Published in:
- Journal of the Association of Genetic Technologists, 2020, v. 46, n. 3, p. 183
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- Publication type:
- Article
How to avoid one thousand opportunities to do harm in genomic medicine.
- Published in:
- 2012
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- Publication type:
- Abstract
A novel BLOC1S5‐related HPS‐11 patient and zebrafish with bloc1s5 disruption.
- Published in:
- Pigment Cell & Melanoma Research, 2021, v. 34, n. 6, p. 1112, doi. 10.1111/pcmr.12995
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- Publication type:
- Article
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non‐syndromic oculocutaneous albinism facilitates genetic diagnosis.
- Published in:
- Pigment Cell & Melanoma Research, 2019, v. 32, n. 5, p. 672, doi. 10.1111/pcmr.12790
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- Publication type:
- Article
WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.
- Published in:
- PLoS ONE, 2024, v. 19, n. 5, p. 1, doi. 10.1371/journal.pone.0303787
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- Publication type:
- Article