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Diagnostic yield of genetic testing in 324 infants with hypotonia.
Sharma S, Repnikova E, Noel-MacDonnell JR, LePichon JB. Diagnostic yield of genetic testing in 324 infants with hypotonia. Clin Genet. 2021 12; 100(6):752-757.
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PubMed
subject areas
Alleles
Amino Acid Substitution
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Testing
Genotype
High-Throughput Nucleotide Sequencing
Humans
Infant
Infant, Newborn
Karyotyping
Male
Muscle Hypotonia
Mutation
Oligonucleotide Array Sequence Analysis
Phenotype
Retrospective Studies
authors with profiles
Janelle R. Noel-MacDonnell
Jean-Baptiste Le Pichon