Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 2
2004 2
2007 3
2008 2
2009 2
2011 1
2013 1
2014 1
2019 1
2021 2
2022 1
2023 4
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

20 results

Results by year

Filters applied: . Clear all
Page 1
Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13-related: Description of 11 further cases.
Díaz-González F, Parrón-Pajares M, Lucas-Castro E, Modamio-Høybjør S, Sentchordi-Montané L, Seidel V, Prieto P, Tarraso-Urios G, Codina-Sola M, Cueto-González AM, Ballesta-Martínez MJ, Santos-Simarro F, Sousa SB, Heath KE. Díaz-González F, et al. Among authors: modamio hoybjor s. Clin Genet. 2023 Jul;104(1):100-106. doi: 10.1111/cge.14351. Epub 2023 Apr 30. Clin Genet. 2023. PMID: 37121912 Review.
Short stature and scoliosis: revealing signs of ultrarare skeletal dysplasia.
Rodríguez Del Rosario S, Modamio-Høybjør S, Heath KE, Bahillo-Curieses MP. Rodríguez Del Rosario S, et al. Among authors: modamio hoybjor s. An Pediatr (Engl Ed). 2023 Nov;99(5):364-365. doi: 10.1016/j.anpede.2023.10.005. Epub 2023 Nov 4. An Pediatr (Engl Ed). 2023. PMID: 37932164 Free article. No abstract available.
Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing.
Bonafont J, Mencía Á, García M, Torres R, Rodríguez S, Carretero M, Chacón-Solano E, Modamio-Høybjør S, Marinas L, León C, Escamez MJ, Hausser I, Del Río M, Murillas R, Larcher F. Bonafont J, et al. Among authors: modamio hoybjor s. Mol Ther. 2019 May 8;27(5):986-998. doi: 10.1016/j.ymthe.2019.03.007. Epub 2019 Mar 15. Mol Ther. 2019. PMID: 30930113 Free PMC article.
High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Díaz-González F, Modamio-Høybjør S, de la Torre C, Nevado J, Ruiz-Ocaña P, Bezanilla-López C, Prieto P, Bahíllo-Curieses P, Carcavilla A, Mulero-Collantes I, Barreda-Bonis AC, Cruz-Rojo J, Ramírez-Fernández J, Bermúdez de la Vega JA, Travessa AM, González de Buitrago Amigo J, Del Pozo A, Vallespín E, Solís M, Goetz C, Campos-Barros Á, Santos-Simarro F, González-Casado I, Ros-Pérez P, Parrón-Pajares M, Heath KE. Sentchordi-Montané L, et al. Among authors: modamio hoybjor s. Eur J Endocrinol. 2021 Oct 11;185(5):691-705. doi: 10.1530/EJE-21-0557. Eur J Endocrinol. 2021. PMID: 34516402
20 results