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
4 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation.
Pediatr Dev Pathol. 2022 May-Jun;25(3):321-326. doi: 10.1177/10935266211056812. Epub 2021 Dec 8.
Pediatr Dev Pathol. 2022.
PMID: 34877902
Novel germinal mutation in NF1: case report.
Arredondo Montero J, López Arbues S, Bronte Anaut M, Morales Garofalo L, García F.
Arredondo Montero J, et al. Among authors: morales garofalo l.
Mol Biol Rep. 2021 Nov;48(11):7617-7620. doi: 10.1007/s11033-021-06720-3. Epub 2021 Oct 1.
Mol Biol Rep. 2021.
PMID: 34596808
Item in Clipboard
Heterozygous type 1 Autosomal Dominant Optic Atrophy (ADOA) with OPA1 c.1936-2A>G genetic variant.
Mozo-Cuadrado M, Tabuenca-Del Barrio L, Belzunce-Manterola A, Rodríguez-Ulecia I, Morales Garófalo LM.
Mozo-Cuadrado M, et al. Among authors: morales garofalo lm.
J Fr Ophtalmol. 2020 Mar;43(3):e107-e108. doi: 10.1016/j.jfo.2019.08.008. Epub 2020 Jan 20.
J Fr Ophtalmol. 2020.
PMID: 31973973
No abstract available.
Item in Clipboard
Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).
Ruiz de Sabando A, Urrutia Lafuente E, García-Amigot F, Alonso Sánchez A, Morales Garofalo L, Moreno S, Ardanaz E, Ramos-Arroyo MA.
Ruiz de Sabando A, et al. Among authors: morales garofalo l.
BMC Cancer. 2019 Nov 27;19(1):1145. doi: 10.1186/s12885-019-6277-x.
BMC Cancer. 2019.
PMID: 31771539
Free PMC article.
Item in Clipboard
Cite
Cite