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

Year Number of Results
1952 1
1993 1
1995 3
2000 1
2001 1
2002 1
2003 2
2004 2
2005 1
2006 1
2007 1
2008 1
2009 6
2010 3
2011 2
2012 1
2013 3
2014 1
2015 3
2016 3
2017 3
2018 2
2019 1
2020 1
2021 3
2022 4
2023 3
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51 results

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Page 1
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C, Jolly A, Shayota BJ, Mazzeu JF, Du H, Dawood M, Soper PC, Ramalho de Lima A, Ferreira BM, Coban-Akdemir Z, White J, Shears D, Thomson FR, Douglas SL, Wainwright A, Bailey K, Wordsworth P, Oldridge M, Lester T, Calder AD, Dumic K, Banka S, Donnai D, Jhangiani SN, Potocki L, Chung WK, Mora S, Northrup H, Ashfaq M, Rosenfeld JA, Mason K, Pollack LC, McConkie-Rosell A, Kelly W, McDonald M, Hauser NS, Leahy P, Powell CM, Boy R, Honjo RS, Kok F, Martelli LR, Filho VO, Genomics England Research Consortium, Muzny DM, Gibbs RA, Posey JE, Liu P, Lupski JR, Sutton VR, Carvalho CMB. Zhang C, et al. Among authors: boy r. HGG Adv. 2021 Dec 3;3(1):100074. doi: 10.1016/j.xhgg.2021.100074. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047859 Free PMC article.
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.
Mazzonetto PC, Villela D, Krepischi ACV, Pierry PM, Bonaldi A, Almeida LGD, Paula MG, Bürger MC, de Oliveira AG, Fonseca GGG, Giugliani R, Riegel-Giugliani M, Bertola D, Yamamoto GL, Passos-Bueno MR, Campos GDS, Machado ACD, Mazzeu JF, Perrone E, Zechi-Ceide RM, Kokitsu-Nakata NM, Vieira TP, Steiner CE, Gil-da-Silva-Lopes VL, Vieira DKR, Boy R, de Pina-Neto JM, Scapulatempo-Neto C, Milanezi F, Rosenberg C. Mazzonetto PC, et al. Among authors: boy r. Am J Med Genet A. 2024 Nov;194(11):e63802. doi: 10.1002/ajmg.a.63802. Epub 2024 Jun 25. Am J Med Genet A. 2024. PMID: 38924610
Carbon nanofibers based carbon-carbon composite fibers.
Hiremath N, Bhat S, Boy R, Evora MC, Naskar AK, Mays J, Bhat G. Hiremath N, et al. Among authors: boy r. Discov Nano. 2023 Dec 21;18(1):159. doi: 10.1186/s11671-023-03944-z. Discov Nano. 2023. PMID: 38127269 Free PMC article.
Finding FMR1 mosaicism in Fragile X syndrome.
Gonçalves TF, dos Santos JM, Gonçalves AP, Tassone F, Mendoza-Morales G, Ribeiro MG, Kahn E, Boy R, Pimentel MM, Santos-Rebouças CB. Gonçalves TF, et al. Among authors: boy r. Expert Rev Mol Diagn. 2016;16(4):501-7. doi: 10.1586/14737159.2016.1135739. Epub 2016 Feb 9. Expert Rev Mol Diagn. 2016. PMID: 26716517 Free PMC article.
Reporter gene systems: A powerful tool for Leishmania studies.
Boy RL, Hong A, Aoki JI, Floeter-Winter LM, Laranjeira-Silva MF. Boy RL, et al. Curr Res Microb Sci. 2022 Sep 29;3:100165. doi: 10.1016/j.crmicr.2022.100165. eCollection 2022. Curr Res Microb Sci. 2022. PMID: 36518162 Free PMC article.
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Borsatto T, Sperb-Ludwig F, Lima SE, S Carvalho MR, S Fonseca PA, S Camelo J Jr, M Ribeiro E, F V de Medeiros P, M Lourenço C, F M de Souza C, Boy R, Félix TM, M Bittar C, L C Pinto L, C Neto E, J Blom H, D Schwartz IV. Borsatto T, et al. Among authors: boy r. PLoS One. 2017 May 12;12(5):e0177503. doi: 10.1371/journal.pone.0177503. eCollection 2017. PLoS One. 2017. PMID: 28498829 Free PMC article.
51 results