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Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
Clin Genet. 2021 Mar;99(3):481-483. doi: 10.1111/cge.13884. Epub 2020 Nov 23.
Clin Genet. 2021.
PMID: 33226119
No abstract available.
Translation and Cross-Cultural Adaptation with Preliminary Validation of GCOS-24 for Use in Spain.
Muñoz-Cabello P, García-Miñaúr S, Espinel-Vallejo ME, Fernández-Franco L, Stephens A, Santos-Simarro F, Lapunzina-Badía P, McAllister M.
Muñoz-Cabello P, et al.
J Genet Couns. 2018 Jun;27(3):732-743. doi: 10.1007/s10897-017-0154-z. Epub 2017 Sep 25.
J Genet Couns. 2018.
PMID: 28944441
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An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.
Codina-Solà M, Trujillano L, Abulí A, Rovira-Moreno E, Muñoz-Cabello P, Campos B, Fernández-Álvarez P, Palau D, Carrasco E, Valenzuela I, Cueto-González AM, Lasa-Aranzasti A, Limeres J, Leno-Colorado J, Costa-Roger M, Moles-Fernández A, Balmaña J, Díez O, Cuscó I, Garcia-Arumí E, Tizzano EF.
Codina-Solà M, et al. Among authors: munoz cabello p.
Eur J Hum Genet. 2023 Feb;31(2):223-230. doi: 10.1038/s41431-022-01240-5. Epub 2022 Nov 29.
Eur J Hum Genet. 2023.
PMID: 36446894
Free PMC article.
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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium.
Bullich G, et al.
J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003.
J Mol Diagn. 2022.
PMID: 35569879
Free article.
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Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
Guimier A, de Pontual L, Braddock SR, Torti E, Pérez-Jurado LA, Muñoz-Cabello P, Arumí M, Monaghan KG, Lee H, Wang LK, Pluym ID, Lynch SA, Stals K, Ellard S, Muller C, Houyel L, Cohen L, Lyonnet S, Bajolle F, Amiel J, Gordon CT.
Guimier A, et al. Among authors: munoz cabello p.
Hum Mol Genet. 2023 Jan 13;32(3):353-356. doi: 10.1093/hmg/ddac084.
Hum Mol Genet. 2023.
PMID: 35396997
No abstract available.
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Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.
Restrepo-Vera JL, Muñoz-Cabello P, Pérez-Rodon J, Rovira-Moreno E, Codina-Solà M, Llauradó A, Salvadó M, Sánchez-Tejerina D, Sotoca J, Martínez-Sáez E, García-Arumí E, Juntas-Morales R.
Restrepo-Vera JL, et al. Among authors: munoz cabello p.
Neuromuscul Disord. 2023 Jun;33(6):463-467. doi: 10.1016/j.nmd.2023.02.010. Epub 2023 Feb 23.
Neuromuscul Disord. 2023.
PMID: 37119590
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