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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2014 | 1 |
2017 | 1 |
2019 | 1 |
2020 | 2 |
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2023 | 1 |
2024 | 1 |
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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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TRIO-related intellectual disability with microcephaly: a case report of a patient with novel clinical findings.
Bevilacqua F, Alberto G, Duarte SP, Serra M, Basterra J, Espeche L, Cerretini RI, Solari AP.
Bevilacqua F, et al. Among authors: solari ap.
Clin Dysmorphol. 2021 Jan;30(1):22-26. doi: 10.1097/MCD.0000000000000349.
Clin Dysmorphol. 2021.
PMID: 33038108
No abstract available.
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Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system.
Espeche LD, Solari AP, Mori MÁ, Arenas RM, Palomares M, Pérez M, Martínez C, Lotersztein V, Segovia M, Armando R, Dain LB, Nevado J, Lapunzina P, Rozental S.
Espeche LD, et al. Among authors: solari ap.
Mol Biol Rep. 2020 Sep;47(9):6863-6878. doi: 10.1007/s11033-020-05743-6. Epub 2020 Sep 13.
Mol Biol Rep. 2020.
PMID: 32920771
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Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.
Espeche LD, Chiauzzi V, Ferder I, Arrar M, Solari AP, Bruque CD, Delea M, Belli S, Fernández CS, Buzzalino ND, Charreau EH, Dain LB.
Espeche LD, et al. Among authors: solari ap.
Genes (Basel). 2017 Aug 16;8(8):194. doi: 10.3390/genes8080194.
Genes (Basel). 2017.
PMID: 28812997
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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