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

Year Number of Results
2005 3
2006 2
2007 9
2008 3
2009 6
2010 5
2011 4
2012 3
2013 4
2014 7
2015 2
2016 2
2017 5
2018 5
2019 5
2020 8
2021 5
2022 7
2023 5
2024 4

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80 results

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Page 1
A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.
Douzgou S, Rawson M, Baselga E, Danielpour M, Faivre L, Kashanian A, Keppler-Noreuil KM, Kuentz P, Mancini GMS, Maniere MC, Martinez-Glez V, Parker VE, Semple RK, Srivastava S, Vabres P, De Wit MY, Graham JM Jr, Clayton-Smith J, Mirzaa GM, Biesecker LG. Douzgou S, et al. Among authors: martinez glez v. Clin Genet. 2022 Jan;101(1):32-47. doi: 10.1111/cge.14027. Epub 2021 Jul 16. Clin Genet. 2022. PMID: 34240408 Free PMC article. Review.
PIK3CA-related congenital haemangioma.
Luque-Luna M, Ivars M, Lavarino CE, Olaciregui NG, Zurriaga CR, Martínez-Glez V, Baselga E. Luque-Luna M, et al. Among authors: martinez glez v. J Eur Acad Dermatol Venereol. 2023 Dec 13. doi: 10.1111/jdv.19735. Online ahead of print. J Eur Acad Dermatol Venereol. 2023. PMID: 38088475 No abstract available.
A six-attribute classification of genetic mosaicism.
Martínez-Glez V, Tenorio J, Nevado J, Gordo G, Rodríguez-Laguna L, Feito M, de Lucas R, Pérez-Jurado LA, Ruiz Pérez VL, Torrelo A, Spinner NB, Happle R, Biesecker LG, Lapunzina P. Martínez-Glez V, et al. Genet Med. 2020 Nov;22(11):1743-1757. doi: 10.1038/s41436-020-0877-3. Epub 2020 Jul 14. Genet Med. 2020. PMID: 32661356 Free PMC article. Review.
Biomarkers in Vestibular Schwannoma-Associated Hearing Loss.
Lassaletta L, Calvino M, Morales-Puebla JM, Lapunzina P, Rodriguez-de la Rosa L, Varela-Nieto I, Martinez-Glez V. Lassaletta L, et al. Among authors: martinez glez v. Front Neurol. 2019 Sep 18;10:978. doi: 10.3389/fneur.2019.00978. eCollection 2019. Front Neurol. 2019. PMID: 31620068 Free PMC article. Review.
Ein asymptomatischer Fleck auf der Stirn.
Ivars M, López-Gutiérrez JC, Martinez-Glez V, Redondo P. Ivars M, et al. Among authors: martinez glez v. J Dtsch Dermatol Ges. 2020 Dec;18(12):1511-1514. doi: 10.1111/ddg.14372_g. J Dtsch Dermatol Ges. 2020. PMID: 33373149 German. No abstract available.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakštein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Čady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanušová K, He YO, Hegde H, Helbig I, Holasová K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai MC, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulová M, Millett CE, Mitchell PB, Moslerová V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Čajbiková NN, Nurnberger JI Jr, Og… See abstract for full author list ➔ Gargano MA, et al. Among authors: martinez glez v. Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005. Nucleic Acids Res. 2024. PMID: 37953324 Free PMC article.
Simpson-Golabi-Behmel syndrome types I and II.
Tenorio J, Arias P, Martínez-Glez V, Santos F, García-Miñaur S, Nevado J, Lapunzina P. Tenorio J, et al. Among authors: martinez glez v. Orphanet J Rare Dis. 2014 Sep 20;9:138. doi: 10.1186/s13023-014-0138-0. Orphanet J Rare Dis. 2014. PMID: 25238977 Free PMC article. Review.
An asymptomatic stain on the forehead.
Ivars M, López-Gutiérrez JC, Martinez-Glez V, Redondo P. Ivars M, et al. Among authors: martinez glez v. J Dtsch Dermatol Ges. 2020 Dec;18(12):1511-1514. doi: 10.1111/ddg.14372. J Dtsch Dermatol Ges. 2020. PMID: 33373153 No abstract available.
New microdeletion and microduplication syndromes: A comprehensive review.
Nevado J, Mergener R, Palomares-Bralo M, Souza KR, Vallespín E, Mena R, Martínez-Glez V, Mori MÁ, Santos F, García-Miñaur S, García-Santiago F, Mansilla E, Fernández L, de Torres ML, Riegel M, Lapunzina P. Nevado J, et al. Among authors: martinez glez v. Genet Mol Biol. 2014 Mar;37(1 Suppl):210-9. doi: 10.1590/s1415-47572014000200007. Genet Mol Biol. 2014. PMID: 24764755 Free PMC article. Review.
80 results