Maria-carmen C. Romero-Carrascosa
Albacete, CM, Spain
Last Updated: 09/26/2026
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Found 10 publications
Case Report: Diagnostic odyssey in rare diseases: when genetic variants are misinterpreted.
Journal: Frontiers in pediatrics
Published: February 04, 2026
Recurrent IRF2BPL c.2152del Variant in NEDAMSS: A Case Report and Comparative Analysis.
Journal: American journal of medical genetics. Part A
Published: August 21, 2025
Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications.
Journal: Frontiers in genetics
Published: July 28, 2022
Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.
Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.
Journal: Journal of autism and developmental disorders
Published: April 23, 2022
Neonatal viral meningitis. The importance of the polymerase chain reaction in their diagnosis
Journal: Revista de neurologia
Published: December 12, 2018
A new severe mutation in the SLC5A7 gene related to congenital myasthenic syndrome type 20.
Journal: Neuromuscular disorders : NMD
Published: November 21, 2017
Value of electroencephalography in the early detection of neonatal leucinosis
Journal: Revista de neurologia
Published: July 22, 2016
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.
Journal: Neuromuscular disorders : NMD
Published: June 06, 2016
Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1.
Journal: Neuromuscular disorders : NMD
Published: July 01, 2014
X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion
Journal: Revista de neurologia
Published: February 09, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026