Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
5 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17.
Hum Mutat. 2015.
PMID: 25655089
Free article.
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation.
Baquero-Montoya C, Gil-Rodríguez MC, Hernández-Marcos M, Teresa-Rodrigo ME, Vicente-Gabas A, Bernal ML, Casale CH, Bueno-Lozano G, Bueno-Martínez I, Queralt E, Villa O, Hernando-Davalillo C, Armengol L, Gómez-Puertas P, Puisac B, Selicorni A, Ramos FJ, Pié J.
Baquero-Montoya C, et al. Among authors: bueno martinez i.
Eur J Med Genet. 2014 Sep;57(9):503-9. doi: 10.1016/j.ejmg.2014.05.006. Epub 2014 May 27.
Eur J Med Genet. 2014.
PMID: 24874887
Item in Clipboard
Could a patient with SMC1A duplication be classified as a human cohesinopathy?
Baquero-Montoya C, Gil-Rodríguez MC, Teresa-Rodrigo ME, Hernández-Marcos M, Bueno-Lozano G, Bueno-Martínez I, Remeseiro S, Fernández-Hernández R, Bassecourt-Serra M, Rodríguez de Alba M, Queralt E, Losada A, Puisac B, Ramos FJ, Pié J.
Baquero-Montoya C, et al. Among authors: bueno martinez i.
Clin Genet. 2014 May;85(5):446-51. doi: 10.1111/cge.12194. Epub 2013 Jun 17.
Clin Genet. 2014.
PMID: 23683030
Item in Clipboard
Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.
Aurensanz Clemente E, Ayerza Casas A, García Lasheras C, Ramos Fuentes F, Bueno Martínez I, Pelegrín Díaz J, Ruiz Frontera P, Montserrat Iglesias L.
Aurensanz Clemente E, et al. Among authors: bueno martinez i.
Clin Case Rep. 2017 Jan 27;5(3):232-237. doi: 10.1002/ccr3.832. eCollection 2017 Mar.
Clin Case Rep. 2017.
PMID: 28265379
Free PMC article.
Item in Clipboard
[A girl with pancytopenia, short stature and minor skeletal abnormalities].
Bueno Lozano O, Bueno Martínez I, Jiménez Vidal A, Ramos Fuente F, Fuertes Palacio MA, Bueno Sánchez M.
Bueno Lozano O, et al. Among authors: bueno martinez i.
An Esp Pediatr. 1997 Apr;46(4):409-10.
An Esp Pediatr. 1997.
PMID: 9214241
Spanish.
No abstract available.
Item in Clipboard
Cite
Cite