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Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Neuropediatrics. 2023 Feb;54(1):31-36. doi: 10.1055/a-1947-8411. Epub 2022 Sep 20.
Neuropediatrics. 2023.
PMID: 36126956
Telangiectasias on the lips and hands of a teenage girl.
Campos-Muñoz L, Oancea Ionescu R, Iglesias-Puzas A, Conde-Taboada A, López-Bran E.
Campos-Muñoz L, et al. Among authors: oancea ionescu r.
Pediatr Dermatol. 2021 Sep;38(5):1324-1326. doi: 10.1111/pde.14746.
Pediatr Dermatol. 2021.
PMID: 34750874
No abstract available.
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The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.
Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B; MITOSPAIN Working Group; Martín MA, Montoya J, Artuch R.
Bellusci M, et al.
Genes (Basel). 2021 Oct 9;12(10):1590. doi: 10.3390/genes12101590.
Genes (Basel). 2021.
PMID: 34680984
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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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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A contingent model for cell-free DNA testing to detect fetal aneuploidy after first trimester combined screening.
Cotarelo-Pérez C, Oancea-Ionescu R, Asenjo-de-la-Fuente E, Ortega-de-Heredia D, Soler-Ruiz P, Coronado-Martín P, Fenollar-Cortés M.
Cotarelo-Pérez C, et al. Among authors: oancea ionescu r.
Eur J Obstet Gynecol Reprod Biol X. 2019 Jan 15;1:100002. doi: 10.1016/j.eurox.2019.100002. eCollection 2019 Jan.
Eur J Obstet Gynecol Reprod Biol X. 2019.
PMID: 31396589
Free PMC article.
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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.
Pereda A, Garin I; Spanish Network for Imprinting Disorders; Perez de Nanclares G.
Pereda A, et al.
BMC Med Genet. 2018 Mar 2;19(1):32. doi: 10.1186/s12881-018-0530-z.
BMC Med Genet. 2018.
PMID: 29499646
Free PMC article.
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MECP2 Duplications in Symptomatic Females: Report on 3 Patients Showing the Broad Phenotypic Spectrum.
San Antonio-Arce V, Fenollar-Cortés M, Oancea Ionescu R, DeSantos-Moreno T, Gallego-Merlo J, Illana Cámara FJ, Cotarelo Pérez MC.
San Antonio-Arce V, et al. Among authors: oancea ionescu r.
Child Neurol Open. 2016 Apr 4;3:2329048X16630673. doi: 10.1177/2329048X16630673. eCollection 2016 Jan-Dec.
Child Neurol Open. 2016.
PMID: 28503606
Free PMC article.
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