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Waggoner, Darrel J.
One or more keywords matched the following items that are connected to
Waggoner, Darrel J.
Item Type
Name
Concept
Intellectual Disability
Academic Article
Calibration of 6q subtelomere deletions to define genotype/phenotype correlations.
Academic Article
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
Academic Article
Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13.
Academic Article
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Academic Article
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects.
Academic Article
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Academic Article
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Search Criteria
Intellectual Disability