Search Results - "Porta Pelayo, Javier"

A Novel Loss-of-Function SEMA3E Mutation in a Patient with Severe Intellectual Disability and Cognitive Regression by Paganoni, Alyssa J J, Amoruso, Federica, Porta Pelayo, Javier, Calleja-Pérez, Beatriz, Vezzoli, Valeria, Duminuco, Paolo, Caramello, Alessia, Oleari, Roberto, Fernández-Jaén, Alberto, Cariboni, Anna

“…Intellectual disability (ID) is a neurological disorder arising from early neurodevelopmental defects. The underlying genetic and molecular mechanisms are…”
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ATM Variant as a Cause of Hereditary Cutaneous Melanoma in a Spanish Family: Case Report by Lendinez-Sanchez, Gonzalo, Diaz-Redondo, Tamara, Iglesias Campos, Marcos, Porta Pelayo, Javier, Porta Pelayo, José María, Muriel-López, Carolina

“…Abstract Introduction: Ataxia-Telangiectasia Mutated (ATM) is a cancer predisposition gene; carriers of germline pathogenic variants have an increased risk of…”
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