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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 Young Adult
Academic Article Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
Academic Article Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature.
Academic Article Lessons from a pair of siblings with BPAN.
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 Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.
Academic Article Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Academic Article Dental radiographic findings in 18 individuals with SATB2-associated syndrome.
Academic Article SATB2-associated syndrome (SAS) and associated dental findings.
Academic Article Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Academic Article Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
Academic Article Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.
Academic Article Speech, language, and feeding phenotypes of SATB2-associated syndrome.
Academic Article Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Academic Article Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Academic Article SATB2-associated syndrome in adolescents and adults.

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  • Young Adult