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2020 2
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2023 1
2024 0

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Page 1
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
Blasco-Pérez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I, Tizzano EF. Blasco-Pérez L, et al. Int J Mol Sci. 2022 Jul 27;23(15):8289. doi: 10.3390/ijms23158289. Int J Mol Sci. 2022. PMID: 35955418 Free PMC article.
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
Boemer F, Caberg JH, Beckers P, Dideberg V, di Fiore S, Bours V, Marie S, Dewulf J, Marcelis L, Deconinck N, Daron A, Blasco-Perez L, Tizzano E, Hiligsmann M, Lombet J, Pereira T, Lopez-Granados L, Shalchian-Tehran S, van Assche V, Willems A, Huybrechts S, Mast B, van Olden R, Dangouloff T, Servais L. Boemer F, et al. Among authors: blasco perez l. Sci Rep. 2021 Oct 7;11(1):19922. doi: 10.1038/s41598-021-99496-2. Sci Rep. 2021. PMID: 34620959 Free PMC article.
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
Camats N, Baz-Redón N, Fernández-Cancio M, Clemente M, Campos-Martorell A, Jaimes N, Antolín M, Garcia-Arumí E, Blasco-Pérez L, Paramonov I, Mogas E, Soler-Colomer L, Yeste D. Camats N, et al. Among authors: blasco perez l. J Clin Endocrinol Metab. 2021 Jan 1;106(1):e152-e170. doi: 10.1210/clinem/dgaa711. J Clin Endocrinol Metab. 2021. PMID: 33029631
Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.
Rivière JG, Franco-Jarava C, Martínez-Gallo M, Aguiló-Cucurull A, Blasco-Pérez L, Paramonov I, Antolín M, Martín-Nalda A, Soler-Palacín P, Colobran R. Rivière JG, et al. Among authors: blasco perez l. Front Immunol. 2020 Feb 12;11:46. doi: 10.3389/fimmu.2020.00046. eCollection 2020. Front Immunol. 2020. PMID: 32117230 Free PMC article.