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Next generation sequencing in endocrine practiceThe Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in CancerChromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia.Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.Biochemical abnormalities in Pearson syndrome.Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literatureDistal Xq28 microdeletions: clarification of the spectrum of contiguous gene deletions involving ABCD1, BCAP31, and SLC6A8 with a new case and review of the literaturePhenotype of a patient with contiguous deletion of TBX5 and TBX3: expanding the disease spectrumAcademia, advocacy, and industry: a collaborative method for clinical research advancement
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Amy Calhoun
@ast
Amy Calhoun
@en
Amy Calhoun
@es
Amy Calhoun
@nl
type
label
Amy Calhoun
@ast
Amy Calhoun
@en
Amy Calhoun
@es
Amy Calhoun
@nl
prefLabel
Amy Calhoun
@ast
Amy Calhoun
@en
Amy Calhoun
@es
Amy Calhoun
@nl
P106
P1153
56072970100
P31
P496
0000-0003-1572-0767