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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 Description of another case of 3q26.33-3q27.2 microdeletion supports a recognizable phenotype.
Academic Article 47, XY, +der(Y),t(X;Y)(p21.1;p11.2): a unique case of XY sex reversal.
Academic Article A new case of de novo 11q duplication in a patient with normal development and intelligence and review of the literature.
Academic Article Clinical utility of the X-chromosome array.
Concept Chromosomes, Human, Pair 11
Concept Chromosomes, Human, Pair 7
Concept Chromosome Banding
Concept Chromosomes, Human, Pair 2
Concept Chromosomes, Human, Pair 3
Concept Chromosome Mapping
Concept Chromosomes, Human, Pair 13
Concept Chromosomes, Human, Pair 17
Concept Chromosomes, Human, Pair 9
Concept Chromosome Deletion
Concept Ring Chromosomes
Concept Sex Chromosome Aberrations
Concept Chromosome Aberrations
Concept Chromosome Duplication
Concept Chromosome Disorders
Concept Chromosomes, Human, X
Concept Sex Chromosome Disorders of Sex Development
Academic Article Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion.
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 Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results.
Academic Article Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
Academic Article Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses.
Academic Article Lessons from a pair of siblings with BPAN.
Academic Article SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations.
Academic Article Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.

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