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Search Results to Yuri Zarate

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Zarate, Yuri

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

Item Type	Name
Academic Article	Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol.
Academic Article	Description of another case of 3q26.33-3q27.2 microdeletion supports a recognizable phenotype.
Academic Article	Phenotypic and microscopic description of a new case of Ermine phenotype.
Concept	Phenotype
Academic Article	Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2.
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	Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.
Academic Article	Aortic dilation, genetic testing, and associated diagnoses.
Academic Article	COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.
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	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	Widening phenotypic spectrum of GABBR2 mutation.
Academic Article	Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.
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	Behavioral phenotype and sleep problems in SATB2-associated syndrome.
Academic Article	Speech, language, and feeding phenotypes of SATB2-associated syndrome.
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	Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Academic Article	A dyadic approach to the delineation of diagnostic entities in clinical genomics.
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.
Academic Article	A clinical scoring system for early onset (neonatal) Marfan syndrome.
Academic Article	Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

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Phenotype