Results 1 to 10 of about 10,250,216 (364)
Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. [PDF]
Pediatr Res, 2023 Background Identifying a precise genetic diagnosis can improve outcomes for individuals with rare disease, though the resources required to do so may impede access and exacerbate healthcare disparities leading to inequitable care.
Wojcik MH +5 more
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The 2019 US medical genetics workforce: a focus on clinical genetics. [PDF]
Genet Med, 2021 This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development. A 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible ...
Jenkins BD +12 more
europepmc +2 more sources
Artificial intelligence in clinical genetics. [PDF]
Eur J Hum GenetArtificial intelligence (AI) has been growing more powerful and accessible, and will increasingly impact many areas, including virtually all aspects of medicine and biomedical research.
Duong D, Solomon BD.
europepmc +2 more sources
Clinical genetics in transition-a comparison of genetic services in Estonia, Finland, and the Netherlands. [PDF]
J Community Genet, 2021 Genetics has traditionally enabled the reliable diagnosis of patients with rare genetic disorders, thus empowering the key role of today’s clinical geneticists in providing healthcare.
Vrijenhoek T +4 more
europepmc +2 more sources
Emerging Role of Clinical Genetics in CKD [PDF]
Kidney Medicine, 2022 Chronic kidney disease (CKD) afflicts 15% of adults in the United States, of whom 25% have a family history. Genetic testing is supportive in identifying and possibly confirming diagnoses of CKD, thereby guiding care.
Prasad Devarajan +7 more
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Pitfalls in clinical genetics [PDF]
Singapore Medical Journal, 2023 With the increasing availability of genetic tests, more doctors are offering and ordering such tests for their patients. Ordering a genetic test appears to be a simple process of filling in paperwork, drawing 3 mL of blood in an ...
Hui-Lin Chin, Denise Li Meng Goh
doaj +2 more sources
Clinical Genetics of Prolidase Deficiency: An Updated Review. [PDF]
Biology (Basel), 2020 Prolidase is a ubiquitous enzyme that plays a major role in the metabolism of proline-rich proteins. Prolidase deficiency is a rare autosomal recessive inborn metabolic and multisystemic disease, characterized by a protean association of symptoms, namely
Spodenkiewicz M +9 more
europepmc +2 more sources
Frontiers in Genetics, 2022 Neurodevelopmental disorders including autism spectrum disorder, intellectual disability, and global developmental delay are among the most common indications for referral to clinical genetics evaluation; and clinical genetic testing is indicated for ...
Amelle Shillington +12 more
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Clinical genetics in Britain: origins and development [PDF]
, 2010 Annotated and edited transcript of a Witness Seminar held on 23 September 2008. Introduction by Professor Sir John Bell, Uiversity of Oxford.First published by the Wellcome Trust Centre for the History of Medicine at UCL, 2010.©The Trustee of the ...
Peter S. Harper, LA Reynolds, Tansey Em
openalex +2 more sources