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Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.
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.
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 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y.
Sci Rep. 2021.
PMID: 33452396
Free PMC article.
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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.
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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 Feb 29:e63578. doi: 10.1002/ajmg.a.63578. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38425142
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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
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