نتایج جستجو برای: monogenic diseases
تعداد نتایج: 852089 فیلتر نتایج به سال:
Exome sequencing is becoming a standard tool for gene mapping of monogenic diseases. Given the vast amount of data generated by Next Generation Sequencing techniques, identification of disease causal variants is like finding a needle in a haystack. The impact assessment and the prioritization of potential pathogenic variants are expected to reduce work in biological validation, which is long an...
Introduction AA amyloidosis may develop as a consequence of chronic inflammatory conditions including autoinflammatory diseases(AID). Mevalonate-kinase(MVK) deficiency(MKD) appears to be the least frequent underlying condition among monogenic periodic syndromes. Moreover, amyloidosis rarely manifests during childhood. We report a case of a small child in whom renal biopsy performed because of t...
Limb-girdle muscular dystrophies (LGMDs) represent a group of muscle diseases due to monogenic mutations encoding proteins that are defective for heterozygous and homozygous prevalent in certain regions. Advances knowledge their pathophysiology have shed light on these rare diseases, which were, until recently, difficult diagnose. This paper has described the process diagnosis autosomal recessi...
The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters. Boycott, et al. 2013. Translating the genomics revolution: the need for an international gene therapy consortium for monogenic diseases. Molecular Therapy 21(2): 266-268.
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