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Search Results to Yuri Zarate

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One or more keywords matched the following items that are connected to Zarate, Yuri

Item TypeName
Academic Article Clinical utility of the X-chromosome array.
Concept Intellectual Disability
Academic Article Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
Academic Article Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
Academic Article SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
Academic Article SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
Academic Article The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
Academic Article De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Academic Article Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Academic Article HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Academic Article MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Academic Article Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Academic Article JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Academic Article De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Academic Article CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Academic Article Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Academic Article De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Academic Article Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Academic Article Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.

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  • Intellectual Disability