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Lista de obras de Claudia Ciaccio

16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.

artículo científico publicado en 2016

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

artículo científico publicado en 2020

Abnormal cerebellar foliation in EBF3 mutation

scientific article published on 04 May 2020

Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present

artículo científico publicado en 2020

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

artículo científico publicado en 2018

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23)

artículo científico publicado en 2019

Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review

artículo científico publicado en 2016

Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review

artículo científico publicado en 2016

MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions

artículo científico publicado en 2016

Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review

artículo científico publicado en 2016

Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly

artículo científico publicado en 2020

Neurological phenotype of Potocki-Lupski syndrome

artículo científico publicado en 2020

New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review

scientific article published on 17 November 2018

PEDIA: prioritization of exome data by image analysis

artículo científico publicado en 2019

Unbalanced X;Autosome Translocations May Lead to Mild Phenotypes and Are Associated with Autoimmune Diseases

scientific article published on 05 February 2020

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