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A new test for autism spectrum disorder: Metabolic data from different cell types

publication published on 23 November 2021

Autistic Disorder: A 20 Year Chronicle

artículo científico publicado en 2020

Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome

scientific article published on 16 August 2018

Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12

scientific article published on 08 December 2019

Cornelia de Lange syndrome in diverse populations

scientific article published on 06 January 2019

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

artículo científico publicado en 2021

Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency

scientific article published on 06 April 2020

Hydrocephaly associated with compound heterozygous alterations in TRAPPC12

artículo científico publicado en 2020

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

scientific article published on 23 July 2020

Risk of meningomyelocele mediated by the common 22q11.2 deletion

artículo científico publicado en 2024

Rubinstein-Taybi syndrome in diverse populations

scientific article published on 27 September 2020

Schimke XLID syndrome results from a deletion in BCAP31

artículo científico publicado en 2020

Williams–Beuren syndrome in diverse populations

artículo científico publicado en 2018

X-linked intellectual disability update 2017

artículo científico publicado en 2018

X-linked intellectual disability: Phenotypic expression in carrier females

scientific article published on 24 November 2019

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