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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 Experience with hemihyperplasia and Beckwith-Wiedemann syndrome surveillance protocol.
Academic Article Intestinal malrotation in a patient with Pfeiffer syndrome type 2.
Academic Article Genetic causes of macroglossia: diagnostic approach.
Academic Article Lethal presentation of neurofibromatosis and Noonan syndrome.
Academic Article Novel fibrillin 1 mutation in a case of neonatal Marfan syndrome: the increasing importance of early recognition.
Academic Article Twin-twin transfusion resulting in fetal cell contamination in Beckwith-Wiedemann syndrome.
Concept Beckwith-Wiedemann Syndrome
Concept Respiratory Distress Syndrome, Newborn
Concept Williams Syndrome
Concept Noonan Syndrome
Concept Hypoplastic Left Heart Syndrome
Concept Neurocutaneous Syndromes
Concept Marfan Syndrome
Concept Syndrome
Concept Pierre Robin Syndrome
Concept Prader-Willi Syndrome
Concept Costello Syndrome
Academic Article Unique Cerebrovascular Anomalies in Noonan Syndrome With RAF1 Mutation
Academic Article Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
Academic Article Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p.
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 Impact of aortic aneurysm on hospitalizations in patients with marfan syndrome: a multi-institutional study.
Academic Article Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
Academic Article Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.
Academic Article STAR syndrome is part of the differential diagnosis of females with anorectal malformations.
Academic Article SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
Academic Article An infant with ash-leaf and café au lait spots: a case of double phakomatosis.
Academic Article Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use.
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 Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.
Academic Article Arterial tortuosity syndrome: 40 new families and literature review.
Academic Article Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Academic Article Combined Tongue-Palate Fusion With Alveolar Bands in a Patient With Pierre Robin Sequence and Van der Woude Syndrome.
Academic Article Correction: Arterial tortuosity syndrome: 40 new families and literature review.
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 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 Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution.
Academic Article MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Academic Article Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.
Academic Article Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls.
Academic Article Managing Sleep and Behavioral Problems in a Preschooler with SATB2-Associated Syndrome.
Academic Article JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Academic Article Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.
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 Case Report: SATB2-Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases.
Academic Article Craniosynostosis is a feature of Costello syndrome.
Academic Article A clinical scoring system for early onset (neonatal) Marfan syndrome.
Academic Article Prevalence and Outcomes of Primary Left Ventricular Dysfunction in Marfan Syndrome.
Academic Article Growth in individuals with SATB2-associated syndrome.
Grant Patient and Stakeholder Alliance for SATB2-Associated Syndrome
Grant Patient and Stakeholder Alliance for SATB2-Associated Syndrome

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