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罕见遗传病基因组学研究进展。

Advance in Genomics of Rare Genetic Diseases.

机构信息

Unit of Vascular Biology and Regenerative Therapy, Centro Cardiologico Monzino IRCCS, 20138 Milan, Italy.

Department of Biology, University of Padua, 35121 Padua, Italy.

出版信息

Biomolecules. 2023 Sep 25;13(10):1441. doi: 10.3390/biom13101441.

DOI:10.3390/biom13101441
PMID:37892123
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10604584/
Abstract

Recent technical breakthroughs in genotyping and bioinformatics techniques have greatly facilitated the translation of genomics into clinical care [...].

摘要

近年来基因分型和生物信息学技术的突破极大地促进了基因组学向临床护理的转化[...]。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49b6/10604584/623d6c2acf85/biomolecules-13-01441-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49b6/10604584/623d6c2acf85/biomolecules-13-01441-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49b6/10604584/623d6c2acf85/biomolecules-13-01441-g001.jpg

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Myocardial Inflammation as a Manifestation of Genetic Cardiomyopathies: From Bedside to the Bench.心肌炎症作为遗传性心肌病的一种表现：从床边到实验室。
Biomolecules. 2023 Apr 4;13(4):646. doi: 10.3390/biom13040646.
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From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.从遗传学角度到临床意义：对 675 例荷兰成骨不全症患者的研究。
Biomolecules. 2023 Feb 2;13(2):281. doi: 10.3390/biom13020281.
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Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only.仅在非综合征性腭裂的病理生物学中发现超罕见变异可识别生物学途径和候选基因。
Biomolecules. 2023 Jan 26;13(2):236. doi: 10.3390/biom13020236.
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Next Generation Sequencing of Genotype Variants and Genetic Association between Heat Shock Proteins HSPA1B Single Nucleotide Polymorphism at the g.31829044 Locus and Heat Tolerance: A Pilot Quasi-Experimental Study.基因变异的新一代测序和热休克蛋白 HSPAlB 基因单核苷酸多态性 g.31829044 位点与耐热性的遗传关联：一项准实验性研究
Biomolecules. 2022 Oct 12;12(10):1465. doi: 10.3390/biom12101465.
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