Silvia Modamio-Høybjør

8PUBLICATIONS
44CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Infant and child healthMedical bacteriologyGene expression (incl. microarray and other genome-wide approaches)Condensed matter imaging
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Publications (8)

|Nov 03, 2026
A Novel Deep-Intronic Variant in HES7 Unveils a Poison Exon Mechanism Underlying Spondylocostal Dysostosis.

|Oct 07, 2026
Height, Head Circumference, Sitting Height, Leg Length, and Body Proportions Growth References to the Argentinian and Spanish Population for Hypochondroplasia.

|Sep 30, 2025
Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo-Fu Type.

Elsa Lucas-Castro, Francisca Diaz-González, Silvia Modamio-Høybjor

|May 28, 2025
Safe and Efficacious Permanent Removal of Large COL7A1 Exons for Gene Reframing as a Reliable Therapeutic Strategy for Recessive Dystrophic Epidermolysis Bullosa.

Sergio López-Manzaneda, Ángeles Mencía, José Bonafont

|Jun 25, 2024
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.

Francisca Díaz-González, Lucía Sentchordi-Montané, Elsa Lucas-Castro

|Nov 08, 2023
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related.

Rosario Ramos-Mejía, Karen E Heath, Silvia Modamio-Høybjør

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Frequent Collaborators

7 joint publications

Karen E Heath

5 joint publications

Francisca Díaz-González

4 joint publications

Manuel Parrón-Pajares

3 joint publications

Lucía Sentchordi-Montané