Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology

Kadlubowska, M. K., & Schrauwen, I. (2022). Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology. Genes, 13(2), 333. https://doi.org/10.3390/genes13020333
Authors:
Magda K Kadlubowska
Isabelle Schrauwen
Affiliated Authors:
Magda K Kadlubowska
Isabelle Schrauwen
Columbia Affiliation:
Subjects:
Artificial Intelligence (MeSH)
Neurology (MeSH)
Author Keywords:
diagnosis
exome sequencing
genome sequencing
integrative omics
long-read sequencing
mosaicism
neurology
non-mendelian inheritance
optical genome mapping
unsolved cases
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Publication Type:
Article
Unique ID:
10.3390/genes13020333
PMID:
35205378
DOI:
10.3390/genes13020333
Journal:
Genes
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created: