Silvia Modamio-Høybjør

6PUBLICATIONS
38CO-AUTHORS
Medical bacteriologyEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Condensed matter imagingAdolescent health
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Publications (6)

|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

|Apr 30, 2023
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.

Francisca Díaz-González, Manuel Parrón-Pajares, Elsa Lucas-Castro

|Sep 13, 2021
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

Lucía Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona

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Frequent Collaborators

5 joint publications

Karen E Heath

4 joint publications

Francisca Díaz-González

3 joint publications

Lucía Sentchordi-Montané

3 joint publications

Manuel Parrón-Pajares