Genetic Testing for Rare Diseases

Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disabilit...

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Detaylı Bibliyografya
Materyal Türü:	Online
Dil:	İngilizce
Baskı/Yayın Bilgisi:	MDPI - Multidisciplinary Digital Publishing Institute 2022
Konular:	retina inherited retinal diseases syndrome Turner syndrome mosaicism ring chromosomes growth hormone deficiency pituitary microadenoma clinical genetics early onset ataxia dystonia neurodevelopment network analysis bioinformatics ataxia phenotype child NGS next generation sequencing inborn errors of metabolism lysosomal disorders neuromuscular disease genetic testing whole exome sequencing Prader–Willi syndrome imprinting disorder recombinant human growth hormone insulin-like growth factor 1 HMGLD HMGCL HMG-CoA lyase deficiency inherited metabolic diseases familial hearing loss multiple diagnoses non-syndromic hearing loss ACTG1 MYH9 genetic counselling rare diseases professional recognition hearing loss genetic diagnosis SLC26A4 DFNB4 Tuvinians Altaians Southern Siberia Russia GSDME DFNA5 single-exon CNV n/a thema EDItEUR::M Medicine and Nursing
Online Erişim:	ONIX_20220506_9783036537283_301
Etiketler:	Etiketle Etiket eklenmemiş, İlk siz ekleyin!

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Genetic Testing for Rare Diseases

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