Silvia Modamio-HØybjØr (Silvia Modamio-Høybjør)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 4

Top Topics

Machine Learning

Optical Coherence Tomography

Bone Mineral Density

Top Venues

European journal of endocrinology

American journal of medical genetics. Part A

Clinical genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Francisca Díaz-González, Lucia Sentchordi-Montané, Elsa Lucas-Castro, Silvia Modamio-HØybjØr, Karen E Heath
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects. European journal of endocrinology 191 (1) (2024)
Rosario Ramos Mejía, Karen E Heath, Silvia Modamio-HØybjØr, Victoria Huckstadt, Calcagni Julián, Rodrigo G Remondino, Virginia Fano
Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1-related. American journal of medical genetics. Part A (2023)
Francisca Díaz-González, Manuel Parrón-Pajares, Elsa Lucas-Castro, Silvia Modamio-HØybjØr, Lucia Sentchordi-Montané, Verónica Seidel, Pablo Prieto, Guillermo Tarraso-Urios, Marta Codina-Sola, Anna Maria Cueto-González, Mary J Ballesta-Martínez, Fernando Santos-Simarro, Sergio B Sousa, Karen E Heath
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases. Clinical genetics (2023)
Lucia Sentchordi-Montané, Sara Benito-Sanz, Miriam Aza-Carmona, Francisca Díaz-González, Silvia Modamio-HØybjØr, Carolina de la Torre, Julián Nevado, Pablo Ruiz-Ocaña, Carolina Bezanilla-López, Pablo Prieto, Pilar Bahíllo-Curieses, Atilano Carcavilla, Inés Mulero-Collantes, Ana C Barreda-Bonis, Jaime Cruz-Rojo, Joaquín Ramírez-Fernández, José Antonio Bermúdez de la Vega, Andre M Travessa, Jesús González de Buitrago Amigo, Ángela Del Pozo, Elena Vallespin, Mario Solís, Carlos Goetz, Ángel Campos-Barros, Fernando Santos-Simarro, Isabel González-Casado, Purificación Ros-Pérez, Manuel Parrón-Pajares, Karen E Heath
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies. European journal of endocrinology 185 (5) (2021)