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
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2013 | 1 |
2021 | 2 |
2023 | 1 |
2024 | 1 |
Search Results
5 results
Results by year
Filters applied: . Clear all
Page 1
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y.
Sci Rep. 2021.
PMID: 33452396
Free PMC article.
Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
Garber A, Weingarten LS, Abreu NJ, Elloumi HZ, Haack T, Hildebrant C, Martínez-Gil N, Mathews J, Müller AJ, Valenzuela Palafoll I, Steigerwald C, Chung WK.
Garber A, et al. Among authors: valenzuela palafoll i.
Am J Med Genet A. 2024 Jul;194(7):e63578. doi: 10.1002/ajmg.a.63578. Epub 2024 Feb 29.
Am J Med Genet A. 2024.
PMID: 38425142
Item in Clipboard
Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.
Werfel L, Martens H, Hennies I, Gjerstad AC, Fröde K, Altarescu G, Banerjee S, Valenzuela Palafoll I, Geffers R, Kirschstein M, Christians A, Bjerre A, Haffner D, Weber RG.
Werfel L, et al. Among authors: valenzuela palafoll i.
Kidney Int Rep. 2023 Aug 14;8(11):2439-2457. doi: 10.1016/j.ekir.2023.08.008. eCollection 2023 Nov.
Kidney Int Rep. 2023.
PMID: 38025229
Free PMC article.
Item in Clipboard
Alveolar capillary dysplasia with misalignment of pulmonary [corrected] veins: concordance between pathological and molecular diagnosis.
Castilla-Fernandez Y, Copons-Fernández C, Jordan-Lucas R, Linde-Sillo Á, Valenzuela-Palafoll I, Ferreres Piñas JC, Moreno-Galdó A, Castillo-Salinas F.
Castilla-Fernandez Y, et al. Among authors: valenzuela palafoll i.
J Perinatol. 2013 May;33(5):401-3. doi: 10.1038/jp.2012.63.
J Perinatol. 2013.
PMID: 23624968
Item in Clipboard
Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C.
Perea-Romero I, et al.
Sci Rep. 2021 May 10;11(1):10340. doi: 10.1038/s41598-021-89275-4.
Sci Rep. 2021.
PMID: 33972629
Free PMC article.
No abstract available.
Item in Clipboard
Cite
Cite