Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Emilia Servián‐Morilla

NOVEL Intronic CAPN3 Roma Mutation Alters Splicing Causing RNA Mediated Decay

Annals of Clinical and Translational Neurology

English

Related publications

Alternative Splicing and Nonsense-Mediated RNA Decay Contribute to the Regulation of SHOX Expression

Multidisciplinary

English

In Vitro Antisense Therapeutics for a Deep Intronic Mutation Causing Neurofibromatosis Type 2

European Journal of Human Genetics

English

RNA Secondary Structure Mediated by Alu Insertion as a Novel Disease-Causing Mechanism

English

Familial Wilms Tumour Resulting From WT1 Mutation: Intronic Polymorphism Causing Artefactual Constitutional Homozygosity

Journal of Medical Genetics

English

a Novel Intronic Mutation in MTM1 Detected by RNA Analysis in a Case of X-Linked Myotubular Myopathy

Neurology: Genetics

English

Novel CDHR1 Mutation Causing Cone Rod Dystrophy

Acta Ophthalmologica

English

Novel Mutation in KCNQ2 Causing Ohtahara Syndrome

Annals of Child Neurology

English

Novel C8ORF37 Mutation Causing Cone Rod Dystrophy

Acta Ophthalmologica

English

The Coupling of Alternative Splicing and Nonsense-Mediated mRNA Decay

Advances in Experimental Medicine and Biology

Molecular Biology

English