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

Year Number of Results
1983 2
2003 1
2012 1
2013 1
2014 2
2019 1
2020 1
2022 1
2023 1
2024 2

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11 results

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Page 1
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
Monilethrix: A New Family with the Novel Mutation in KRT81 Gene.
Ferrando J, Galve J, Torres-Puente M, Santillán S, Nogués S, Grimalt R. Ferrando J, et al. Among authors: santillan s. Int J Trichology. 2012 Jan;4(1):53-5. doi: 10.4103/0974-7753.96105. Int J Trichology. 2012. PMID: 22628999 Free PMC article. No abstract available.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Population genetic structure of traditional populations in the Peruvian Central Andes and implications for South American population history.
Cabana GS, Lewis CM Jr, Tito RY, Covey RA, Cáceres AM, Cruz AF, Durand D, Housman G, Hulsey BI, Iannacone GC, López PW, Martínez R, Medina Á, Dávila OO, Pinto KP, Santillán SI, Domínguez PR, Rubel M, Smith HF, Smith SE, Massa VR, Lizárraga B, Stone AC. Cabana GS, et al. Among authors: santillan si. Hum Biol. 2014 Summer;86(3):147-65. doi: 10.13110/humanbiology.86.3.0147. Hum Biol. 2014. PMID: 25836744
Clinical-Pathological Correlation of KRAS Mutation Status in Metastatic Colorectal Adenocarcinoma.
Ribeiro KB, Ribeiro KB, Feres O, da Rocha JJR, Rapatoni L, Garcia SB, Silva AR, da Silva Castro Perdona G, de Souza HCC, Santillan SIG, de Oliveira HF, da Cunha Tirapelli DP, Peria FM. Ribeiro KB, et al. Among authors: santillan sig. World J Oncol. 2013 Oct;4(4-5):179-187. doi: 10.4021/wjon719w. Epub 2013 Sep 27. World J Oncol. 2013. PMID: 29147353 Free PMC article.
[Cytogenetics in the diagnosis of malignancy in effusions].
Bello MJ, Rey JA, Ramos C, Santillán S, Ibáñez A. Bello MJ, et al. Among authors: santillan s. Rev Clin Esp. 1983 May 31;169(4):229-32. Rev Clin Esp. 1983. PMID: 6622766 Spanish. No abstract available.
11 results