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Year | Number of Results |
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Page 1
Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder.
Clin Genet. 2024 Feb;105(2):140-149. doi: 10.1111/cge.14440. Epub 2023 Oct 30.
Clin Genet. 2024.
PMID: 37904618
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P.
Tenorio J, et al.
Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.
Hum Mutat. 2014.
PMID: 25196541
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Evaluation of factors predicting the benefit from systemic oncological treatment for severely ill hospitalized patients: a retrospective study.
Neves MBM, Neves YCS, Bomonetto JVB, Matos PPC, Giglio AD, Cubero DIG.
Neves MBM, et al. Among authors: matos ppc.
BMC Palliat Care. 2023 Sep 6;22(1):131. doi: 10.1186/s12904-023-01256-8.
BMC Palliat Care. 2023.
PMID: 37674155
Free PMC article.
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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P.
Tenorio J, et al.
Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4.
Eur J Hum Genet. 2020.
PMID: 31685998
Free PMC article.
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Persistence of an infected urachus presenting as acute abdominal pain. Case report.
Hernandez DM, Matos PP, Hernandez JC, Muñoz JL, Villasana Lde C.
Hernandez DM, et al. Among authors: matos pp.
Arch Esp Urol. 2009 Sep;62(7):589-92.
Arch Esp Urol. 2009.
PMID: 19815963
Review.
English, Spanish.
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