油管up主:1-Minute Medical Terminology 系列名称:Medical Terminology For Beginners 必备词根 “endo-” inside 里面 “exo-” outside外面 01 Endoscopy→ 内窥镜检查术 In endoscopy, a doctor uses specialinstruments(仪器)to look inside the body...
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BMC Medical Genomics volume 17, Article number: 196 (2024) Cite this article 861 Accesses Metrics details Abstract Background and objective Autosomal recessive genetic disorders pose significant health challenges in regions where consanguineous marriages are prevalent. The utilization of exome sequencing ...
9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook Dictionary Medical Encyclopedia Wikipedia Related to exocarp:pericarp,endocarp Graphic Thesaurus🔍 DisplayON AnimationON Legend Synonym Antonym Related </>embed</> ...
A population-based study of newly diagnosed epilepsy in infants. Epilepsia. 2013;54:437–45. Article Google Scholar Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the...
In short, we call this approach prioritization of exome data by image analysis (PEDIA). MATERIALS AND METHODS We compiled a cohort comprising 679 individuals with frontal facial photographs and clinical features documented in HPO terminology.3 The diagnoses of all individuals have previously been ...
Terminology for pregnancy loss prior to viability: a consensus statement from the ESHRE early pregnancy special interest group. Hum Reprod. 2015;30(3):495–8. Article PubMed CAS Google Scholar Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol. ...
We used a terminology so that MFS-associated variants identified in the ESP database are termed ESP-Positive variants and variants not identified in ESP as ESP-Negative variants. Because of lack of data regarding introns and untranslated regions in the ESP, variants in introns and untranslated ...
Official journal of the American College of Medical Genetics and Genomics Systematic Review Open Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies Michael P. Mackley, BSc(Hons)1, Benjamin Fletcher,...
Subsequently, the ACMG revised the terminology to “secondary findings” (SFs) because these genes are intentionally being analyzed, as opposed to genetic variants found incidentally or accidentally; the shift in terminology also maintained consistency with a recommendation by the Presidential Commission ...