Maria Marcos-Hernandez
CIBERER GCV02 And ISS Aragon
Zaragoza, AR 50009, Spain
Zaragoza, AR 50009, Spain
Last Updated: 09/26/2026
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Found 9 publications
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.
Journal: International journal of molecular sciences
Published: February 27, 2018
Cornelia de Lange syndrome: Congenital heart disease in 149 patients.
Journal: Medicina clinica
Published: February 03, 2017
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.
Journal: International journal of molecular sciences
Published: December 31, 2016
Special cases in Cornelia de Lange syndrome: The Spanish experience.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: May 11, 2016
Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome.
Journal: BioMed research international
Published: October 03, 2015
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.
Journal: International journal of molecular sciences
Published: April 09, 2014
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Journal: European journal of medical genetics
Published: September 26, 2013
Could a patient with SMC1A duplication be classified as a human cohesinopathy?
Journal: Clinical genetics
Published: February 27, 2013
Showing 1-9 of 9
Last Updated: 09/26/2026