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List of works by Alfonso Caro-Llopis

A Novel Mutation of in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

scientific article published on 01 July 2018

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

scientific article

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

scientific article published on 8 August 2016

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

scientific article published on 20 December 2018

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

scientific article published on 12 September 2016

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

scientific article published on 08 September 2018

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

scientific journal article

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