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Year Number of Results
2003 1
2004 2
2006 1
2008 2
2009 1
2011 2
2012 1
2023 2
2024 0

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12 results

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Page 1
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart J, Čokolić Petrović D, Espinoza I, Ortigoza-Escobar JD, Martemyanov KA; GNAO1-Study Group. Domínguez-Carral J, et al. Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37548038
[Holt-Oram syndrome].
Cáceres Marzal C, Galán Gómez E, Campo Sampedro FM, Cardesa García JJ. Cáceres Marzal C, et al. An Pediatr (Barc). 2004 Jan;60(1):91-2. doi: 10.1016/s1695-4033(04)78225-9. An Pediatr (Barc). 2004. PMID: 14718140 Free article. Spanish. No abstract available.
[Zellweger syndrome. Reports on two new cases].
Cáceres-Marzal C, Vaquerizo-Madrid J, Girós M, Ruiz F, Roels F. Cáceres-Marzal C, et al. Rev Neurol. 2003 Jun 1-15;36(11):1030-4. Rev Neurol. 2003. PMID: 12808498 Free article. Spanish.
Early response to idursulfase treatment in a 3 year-old boy affected of Hunter syndrome.
Galán-Gómez E, Guerrero-Rico A, Cáceres-Marzal C, Zambrano-Castaño M, Moreno-Tejero ML, Grande-Tejada AM, Fernández-Hernández S, Vaquerizo-Madrid J, Cardesa-García JJ. Galán-Gómez E, et al. Among authors: caceres marzal c. Eur J Med Genet. 2008 May-Jun;51(3):268-71. doi: 10.1016/j.ejmg.2008.02.005. Epub 2008 Mar 4. Eur J Med Genet. 2008. PMID: 18396123
12 results