Genetic Testing for Rare Diseases

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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Bibliographic Details
Format: eBook
Language:English
Published: Basel MDPI - Multidisciplinary Digital Publishing Institute 2022
Subjects:
Medicine and Nursing
ACTG1
Altaians
ataxia
bioinformatics
child
clinical genetics
DFNA5
DFNB4
dystonia
early onset ataxia
familial hearing loss
genetic counselling
genetic diagnosis
genetic testing
growth hormone deficiency
GSDME
hearing loss
HMG-CoA lyase deficiency
HMGCL
HMGLD
imprinting disorder
inborn errors of metabolism
inherited metabolic diseases
inherited retinal diseases
insulin-like growth factor 1
lysosomal disorders
mosaicism
multiple diagnoses
MYH9
n/a
network analysis
neurodevelopment
neuromuscular disease
next generation sequencing
NGS
non-syndromic hearing loss
phenotype
pituitary microadenoma
Prader-Willi syndrome
professional recognition
rare diseases
recombinant human growth hormone
retina
ring chromosomes
Russia
single-exon CNV
SLC26A4
Southern Siberia
syndrome
Turner syndrome
Tuvinians
whole exome sequencing
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Internet

Open Access: DOAB: description of the publication
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