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

Year Number of Results
1974 1
1987 2
1994 1
1995 2
1996 5
1997 2
1998 3
1999 1
2000 1
2001 1
2005 3
2006 10
2007 7
2008 5
2009 1
2010 4
2011 4
2012 4
2013 3
2014 6
2015 9
2016 7
2017 9
2018 10
2019 8
2020 8
2021 9
2022 13
2023 14
2024 9

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147 results

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Page 1
CPLANE Complex and Ciliopathies.
Martín-Salazar JE, Valverde D. Martín-Salazar JE, et al. Among authors: valverde d. Biomolecules. 2022 Jun 17;12(6):847. doi: 10.3390/biom12060847. Biomolecules. 2022. PMID: 35740972 Free PMC article. Review.
Alström syndrome: current perspectives.
Álvarez-Satta M, Castro-Sánchez S, Valverde D. Álvarez-Satta M, et al. Among authors: valverde d. Appl Clin Genet. 2015 Jul 21;8:171-9. doi: 10.2147/TACG.S56612. eCollection 2015. Appl Clin Genet. 2015. PMID: 26229500 Free PMC article. Review.
Seven Additional Patients with SOX17 Related Pulmonary Arterial Hypertension and Review of the Literature.
Gallego-Zazo N, Miranda-Alcaraz L, Cruz-Utrilla A, Del Cerro Marín MJ, Álvarez-Fuente M, Del Mar Rodríguez Vázquez Del Rey M, Guillén Rodríguez I, Becerra-Munoz VM, Moya-Bonora A, Ochoa Parra N, Parra A, Pascual P, Cazalla M, Silván C, Arias P, Valverde D, de Jesús-Pérez V, Lapunzina P, Escribano-Subías P, Tenorio-Castano J. Gallego-Zazo N, et al. Among authors: valverde d. Genes (Basel). 2023 Oct 20;14(10):1965. doi: 10.3390/genes14101965. Genes (Basel). 2023. PMID: 37895315 Free PMC article. Review.
ATG2 transports lipids to promote autophagosome biogenesis.
Valverde DP, Yu S, Boggavarapu V, Kumar N, Lees JA, Walz T, Reinisch KM, Melia TJ. Valverde DP, et al. J Cell Biol. 2019 Jun 3;218(6):1787-1798. doi: 10.1083/jcb.201811139. Epub 2019 Apr 5. J Cell Biol. 2019. PMID: 30952800 Free PMC article.
Bardet-Biedl syndrome: A rare genetic disease.
Castro-Sánchez S, Álvarez-Satta M, Valverde D. Castro-Sánchez S, et al. Among authors: valverde d. J Pediatr Genet. 2013 Jun;2(2):77-83. doi: 10.3233/PGE-13051. J Pediatr Genet. 2013. PMID: 27625843 Free PMC article. Review.
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Dollfus H, et al. Among authors: valverde d. Eur J Hum Genet. 2024 Nov;32(11):1347-1360. doi: 10.1038/s41431-024-01634-7. Epub 2024 Jul 31. Eur J Hum Genet. 2024. PMID: 39085583 Free PMC article. Review.
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Prapa M, Lago-Docampo M, Swietlik EM, Montani D, Eyries M, Humbert M, Welch CL, Chung WK, Berger RMF, Bogaard HJ, Danhaive O, Escribano-Subías P, Gall H, Girerd B, Hernandez-Gonzalez I, Holden S, Hunt D, Jansen SMA, Kerstjens-Frederikse W, Kiely DG, Lapunzina P, McDermott J, Moledina S, Pepke-Zaba J, Polwarth GJ, Schotte G, Tenorio-Castaño J, Thompson AAR, Wharton J, Wort SJ, Megy K, Mapeta R, Treacy CM, Martin JM, Li W, Swift AJ, Upton PD, Morrell NW, Gräf S, Valverde D; NIHR BioResource for Translational Research–Rare Diseases; National Cohort Study of Idiopathic and Heritable PAH; PAH Biobank Enrolling Centers’ Investigators. Prapa M, et al. Among authors: valverde d. Am J Respir Crit Care Med. 2022 Dec 15;206(12):1522-1533. doi: 10.1164/rccm.202203-0485OC. Am J Respir Crit Care Med. 2022. PMID: 35852389 Free PMC article.
147 results