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

Year Number of Results
1991 1
1992 1
1993 1
1994 3
1995 1
1996 2
1997 3
1998 1
1999 1
2000 3
2001 5
2002 4
2003 6
2004 4
2005 3
2006 5
2007 8
2008 6
2009 4
2010 6
2011 5
2012 10
2013 5
2014 7
2015 7
2016 3
2017 3
2018 4
2019 3
2020 5
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112 results
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Page 1
VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy.
Marcos AT, Martín-Doncel E, Morejón-García P, Marcos-Alcalde I, Gómez-Puertas P, Segura-Puimedon M, Armengol L, Navarro-Pando JM, Lazo PA. Marcos AT, et al. Among authors: Gomez-Puertas P. Ann Clin Transl Neurol. 2020 May 4. doi: 10.1002/acn3.51050. Online ahead of print. Ann Clin Transl Neurol. 2020. PMID: 32365420 Free article.
Molecular Characterization of Tc964, A Novel Antigenic Protein from Trypanosoma cruzi.
Ruiz-Márvez E, Ramírez CA, Rodríguez ER, Flórez MM, Delgado G, Guzmán F, Gómez-Puertas P, Requena JM, Puerta CJ. Ruiz-Márvez E, et al. Among authors: Gomez-Puertas P. Int J Mol Sci. 2020 Mar 31;21(7):2432. doi: 10.3390/ijms21072432. Int J Mol Sci. 2020. PMID: 32244527 Free PMC article.
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard AM, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T, Maas SM, Martinez F, McKee S, Menke LA, Mulder PA, Murch OD, Parker M, Pie J, Ramos FJ, Rieubland C, Rosenfeld Mokry JA, Scarano E, Shinawi M, Gómez-Puertas P, Tümer Z, Hennekam RC. Krab LC, et al. Among authors: Gomez-Puertas P. Hum Genet. 2020 May;139(5):575-592. doi: 10.1007/s00439-020-02138-2. Epub 2020 Mar 19. Hum Genet. 2020. PMID: 32193685 Free PMC article.
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Latorre-Pellicer A, Ascaso Á, Trujillano L, Gil-Salvador M, Arnedo M, Lucia-Campos C, Antoñanzas-Pérez R, Marcos-Alcalde I, Parenti I, Bueno-Lozano G, Musio A, Puisac B, Kaiser FJ, Ramos FJ, Gómez-Puertas P, Pié J. Latorre-Pellicer A, et al. Among authors: Gomez-Puertas P. Int J Mol Sci. 2020 Feb 4;21(3):1042. doi: 10.3390/ijms21031042. Int J Mol Sci. 2020. PMID: 32033219 Free PMC article.
More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.
Arnedo M, Latorre-Pellicer A, Lucia-Campos C, Gil-Salvador M, Antoñanzas-Peréz R, Gómez-Puertas P, Bueno-Lozano G, Puisac B, Pié J. Arnedo M, et al. Among authors: Gomez-Puertas P. Int J Mol Sci. 2019 Dec 4;20(24):6124. doi: 10.3390/ijms20246124. Int J Mol Sci. 2019. PMID: 31817290 Free PMC article. Review.
MEPSAnd: minimum energy path surface analysis over n-dimensional surfaces.
Marcos-Alcalde I, López-Viñas E, Gómez-Puertas P. Marcos-Alcalde I, et al. Among authors: Gomez-Puertas P. Bioinformatics. 2020 Feb 1;36(3):956-958. doi: 10.1093/bioinformatics/btz649. Bioinformatics. 2020. PMID: 31418769
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
Gudmundsson S, Annerén G, Marcos-Alcalde Í, Wilbe M, Melin M, Gómez-Puertas P, Bondeson ML. Gudmundsson S, et al. Among authors: Gomez-Puertas P. Eur J Med Genet. 2019 Jun;62(6):103526. doi: 10.1016/j.ejmg.2018.08.007. Epub 2018 Aug 17. Eur J Med Genet. 2019. PMID: 30125677 Review.
Population structure of OXA-48-producing Klebsiella pneumoniae ST405 isolates during a hospital outbreak characterised by genomic typing.
López-Camacho E, Paño-Pardo JR, Ruiz-Carrascoso G, Wesselink JJ, Lusa-Bernal S, Ramos-Ruiz R, Ovalle S, Gómez-Gil R, Pérez-Blanco V, Pérez-Vázquez M, Gómez-Puertas P, Mingorance J. López-Camacho E, et al. Among authors: Gomez-Puertas P. J Glob Antimicrob Resist. 2018 Dec;15:48-54. doi: 10.1016/j.jgar.2018.06.008. Epub 2018 Jun 22. J Glob Antimicrob Resist. 2018. PMID: 29940334
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.
Puisac B, Marcos-Alcalde I, Hernández-Marcos M, Tobajas Morlana P, Levtova A, Schwahn BC, DeLaet C, Lace B, Gómez-Puertas P, Pié J. Puisac B, et al. Among authors: Gomez-Puertas P. Int J Mol Sci. 2018 Mar 28;19(4):1010. doi: 10.3390/ijms19041010. Int J Mol Sci. 2018. PMID: 29597274 Free PMC article.
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