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 Custom Filters

Results by year

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

Year Number of Results
2010 1
2011 1
2014 1
2016 1
2017 1
2018 1
2023 1
2024 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

6 results

Results by year

Filters applied: . Clear all
Page 1
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
Language Impairment Resulting from a de novo Deletion of 7q32.1q33.
Jiménez-Romero MS, Barcos-Martínez M, Espejo-Portero I, Benítez-Burraco A. Jiménez-Romero MS, et al. Among authors: espejo portero i. Mol Syndromol. 2016 Oct;7(5):292-298. doi: 10.1159/000448208. Epub 2016 Aug 6. Mol Syndromol. 2016. PMID: 27867345 Free PMC article.
[Partial trisomy and mosaicism associated with Fallot Tetralogy].
Tejero Hernández MA, Gómez Guzmán E, Espejo Portero I, Barcos M. Tejero Hernández MA, et al. Among authors: espejo portero i. An Pediatr (Barc). 2011 Jan;74(1):55-6. doi: 10.1016/j.anpedi.2010.08.004. Epub 2010 Dec 10. An Pediatr (Barc). 2011. PMID: 20971045 Free article. Spanish. No abstract available.