Damia Suner-Heine

Health Research Institute Of The Balearic Islands
Palma, PM, Spain

Last Updated: 09/26/2026

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Found 11 publications

Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families.

Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families.

Journal: Neuromuscular disorders : NMD

Published: March 30, 2025

Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis.

Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis.

Journal: Scientific reports

Published: March 17, 2025

The Triad of Blood-Brain Barrier Integrity: Endothelial Cells, Astrocytes, and Pericytes in Perinatal Stroke Pathophysiology.

The Triad of Blood-Brain Barrier Integrity: Endothelial Cells, Astrocytes, and Pericytes in Perinatal Stroke Pathophysiology.

Journal: International journal of molecular sciences

Published: January 29, 2025

New genomic technologies and their application in pediatric care.

New genomic technologies and their application in pediatric care.

Journal: Anales de pediatria

Published: November 20, 2024

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

Journal: Annals of neurology

Published: October 28, 2024

Identification of Driver Epistatic Gene Pairs Combining Germline and Somatic Mutations in Cancer.

Identification of Driver Epistatic Gene Pairs Combining Germline and Somatic Mutations in Cancer.

Journal: International journal of molecular sciences

Published: February 23, 2023

Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation.

Familial Dilated Cardiomyopathy and Sudden Cardiac Arrest: New Association with a SCN5A Mutation.

Journal: Genes

Published: October 29, 2021

The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain.

The conserved ASTN2/BRINP1 locus at 9q33.1-33.2 is associated with major psychiatric disorders in a large pedigree from Southern Spain.

Journal: Scientific reports

Published: January 20, 2021

Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes.

Familial Psychosis Associated With a Missense Mutation at MACF1 Gene Combined With the Rare Duplications DUP3p26.3 and DUP16q23.3, Affecting the CNTN6 and CDH13 Genes.

Journal: Frontiers in genetics

Published: October 29, 2020

A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.

A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.

Journal: Journal of genetic counseling

Published: November 19, 2015

Geographical genetic variability: a factor to consider when assessing clinical implications of PRDM9.

Geographical genetic variability: a factor to consider when assessing clinical implications of PRDM9.

Journal: Molecular genetics & genomic medicine

Published: April 02, 2014

Showing 1-11 of 11

Last Updated: 09/26/2026