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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 1
2005 3
2006 2
2007 1
2008 2
2010 1
2012 2
2013 1
2014 4
2015 5
2016 4
2017 3
2018 2
2019 3
2020 7
2021 13
2022 4
2023 5
2024 0

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53 results

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Page 1
Autism spectrum disorder prevalence in Italy: a nationwide study promoted by the Ministry of Health.
Scattoni ML, Fatta LM, Micai M, Sali ME, Bellomo M, Salvitti T, Fulceri F, Castellano A, Molteni M, Gambino G, Posada M, Romano G, Puopolo M. Scattoni ML, et al. Among authors: posada m. Child Adolesc Psychiatry Ment Health. 2023 Oct 28;17(1):125. doi: 10.1186/s13034-023-00673-0. Child Adolesc Psychiatry Ment Health. 2023. PMID: 37898807 Free PMC article.
Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators.
Sciascia S, Roccatello D, Salvatore M, Carta C, Cellai LL, Ferrari G, Lumaka A, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero VI, Scaria V, Jamuar SS, Shotelersuk V, Gahl WA, Wiafe SA, Bodamer O, Posada M, Taruscio D. Sciascia S, et al. Among authors: posada m. Front Public Health. 2023 Sep 26;11:1248260. doi: 10.3389/fpubh.2023.1248260. eCollection 2023. Front Public Health. 2023. PMID: 37822540 Free PMC article.
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International.
Taruscio D, Salvatore M, Lumaka A, Carta C, Cellai LL, Ferrari G, Sciascia S, Groft S, Alanay Y, Azam M, Baynam G, Cederroth H, Cutiongco-de la Paz EM, Dissanayake VHW, Giugliani R, Gonzaga-Jauregui C, Hettiarachchi D, Kvlividze O, Landoure G, Makay P, Melegh B, Ozbek U, Puri RD, Romero V, Scaria V, Jamuar SS, Shotelersuk V, Roccatello D, Gahl WA, Wiafe SA, Bodamer O, Posada M. Taruscio D, et al. Among authors: posada m. Front Public Health. 2023 Mar 2;11:1079601. doi: 10.3389/fpubh.2023.1079601. eCollection 2023. Front Public Health. 2023. PMID: 36935719 Free PMC article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Among authors: posada m. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
Baladron B, Mielu LM, López-Martín E, Barrero MJ, Lopez L, Alvarado JI, Monzón S, Varona S, Cuesta I, Cazorla R, Lara J, Iglesias G, Román E, Ros P, Gomez-Mariano G, Cubillo I, Miguel EH, Rivera D, Alonso J, Bermejo-Sánchez E, Posada M, Martínez-Delgado B. Baladron B, et al. Among authors: posada m. Int J Mol Sci. 2022 Aug 22;23(16):9480. doi: 10.3390/ijms23169480. Int J Mol Sci. 2022. PMID: 36012761 Free PMC article.
Autistic Adult Services Availability, Preferences, and User Experiences: Results From the Autism Spectrum Disorder in the European Union Survey.
Micai M, Fulceri F, Salvitti T, Romano G, Poustka L, Diehm R, Iskrov G, Stefanov R, Guillon Q, Rogé B, Staines A, Sweeney MR, Boilson AM, Leósdóttir T, Saemundsen E, Moilanen I, Ebeling H, Yliherva A, Gissler M, Parviainen T, Tani P, Kawa R, Pisula E, Vicente A, Rasga C, Budişteanu M, Dale I, Povey C, Flores N, Jenaro C, Monroy ML, Primo PG, Charman T, Cramer S, Warberg CK, Canal-Bedia R, Posada M, Schendel D, Scattoni ML. Micai M, et al. Among authors: posada m. Front Psychiatry. 2022 Jun 10;13:919234. doi: 10.3389/fpsyt.2022.919234. eCollection 2022. Front Psychiatry. 2022. PMID: 35757227 Free PMC article.
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group; Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND; Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortium. Matalonga L, et al. Eur J Hum Genet. 2021 Sep;29(9):1466-1469. doi: 10.1038/s41431-021-00934-6. Eur J Hum Genet. 2021. PMID: 34393220 Free PMC article. No abstract available.
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
de Boer E, Ockeloen CW, Matalonga L, Horvath R; Solve-RD SNV-indel working group; Rodenburg RJ, Coenen MJH, Janssen M, Henssen D, Gilissen C, Steyaert W, Paramonov I; Solve-RD-DITF-ITHACA; Trimouille A, Kleefstra T, Verloes A, Vissers LELM. de Boer E, et al. Eur J Hum Genet. 2021 Sep;29(9):1470-1471. doi: 10.1038/s41431-021-00937-3. Eur J Hum Genet. 2021. PMID: 34267341 Free PMC article. No abstract available.
53 results