Karen E Heath

19PUBLICATIONS
69CO-AUTHORS
Medical infection agents (incl. prions)Gene expression (incl. microarray and other genome-wide approaches)Medical bacteriologySport and exercise psychologyOrthopaedics
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Publications (19)

|May 02, 2026
Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type.

|Jan 16, 2026
International guideline on genetic testing of children with short stature.

Andrew Dauber, Alexander A L Jorge, Ola Nilsson

|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

|Mar 25, 2025
Moderate to Severe Short Stature and Joint Involvement in Individuals With ACAN Deletions.

Lucia Sentchordi-Montané, Francisca Díaz-Gonzalez, Silvia Modamio-Høybjør

|Nov 14, 2024
AMOTL1 -Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities.

Natalia Gallego-Zazo, Jair Tenorio-Castano, Alejandro Parra

|Aug 01, 2024
Novel FLNB Variants in Seven Argentinian Cases with Spondylocarpotarsal Synostosis Syndrome.

R Ramos-Mejía, M Del Pino, M Aza-Carmona

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Frequent Collaborators

7 joint publications

Francisca Diaz-Gonzalez

5 joint publications

Silvia Modamio-Høybjør

5 joint publications

Lucía Sentchordi-Montané

3 joint publications

Rosario Ramos-Mejía