Alfonso Caro-Llopis

Alfonso Caro-Llopis

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Alfonso Caro-Llopis

Alfonso Caro-Llopis

Publications by authors named "Alfonso Caro-Llopis"

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9Publications

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The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.

Am J Med Genet A 2018 11 20;176(11):2456-2459. Epub 2018 Sep 20.

Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.40486DOI Listing
November 2018

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability.

Int J Genomics 2017 24;2017:4798474. Epub 2017 May 24.

Unidad de Genética, Hospital Universitario y Politécnico La Fe, Avenida de Fernando Abril Martorell 106, 46026 Valencia, Spain.

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http://dx.doi.org/10.1155/2017/4798474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463148PMC
May 2017

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

J Med Genet 2017 02 12;54(2):87-92. Epub 2016 Sep 12.

Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2016-103964DOI Listing
February 2017

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

Pediatr Res 2016 12 8;80(6):809-815. Epub 2016 Aug 8.

Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1038/pr.2016.162DOI Listing
December 2016