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Search Results to Shivarajan M Amudhavalli

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One or more keywords matched the following items that are connected to Amudhavalli, Shivarajan

Item TypeName
Concept Phenotype
Academic Article Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
Academic Article Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series.
Academic Article Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Academic Article Expanding the phenotype of feingold syndrome-2.
Academic Article Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia.
Academic Article Further delineation of Aym?-Gripp syndrome and use of automated facial analysis tool.
Academic Article Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.
Academic Article Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly.
Academic Article TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay.
Academic Article Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.
Academic Article Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.

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