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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Bibliográfalaš dieđut
Materiálatiipa:	Online
Giella:	eaŋgalasgiella
Almmustuhtton:	MDPI - Multidisciplinary Digital Publishing Institute 2022
Fáttát:	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
Liŋkkat:	ONIX_20220506_9783036537283_301
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Genetic Testing for Rare Diseases

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