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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4.
J Med Genet. 2017.
PMID: 28377535
Free PMC article.
Diagnostic Yield of Epilepsy Panels in Children With Medication-Refractory Epilepsy.
Segal E, Pedro H, Valdez-Gonzalez K, Parisotto S, Gliksman F, Thompson S, Sabri J, Fertig E.
Segal E, et al.
Pediatr Neurol. 2016 Nov;64:66-71. doi: 10.1016/j.pediatrneurol.2016.06.019. Epub 2016 Jul 1.
Pediatr Neurol. 2016.
PMID: 27726903
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De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.
Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J.
Slavotinek A, et al.
Hum Mol Genet. 2017 Dec 15;26(24):4849-4860. doi: 10.1093/hmg/ddx363.
Hum Mol Genet. 2017.
PMID: 29036646
Free PMC article.
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A Case of Reversible Infantile Respiratory Chain Deficiency Presenting With Hypotonia, Hyperammonemia, and Failure to Thrive.
Guerrero JC, Pedro H, Parisotto S, Heller D, Baisre-de Leon A.
Guerrero JC, et al.
Pediatr Dev Pathol. 2019 Nov-Dec;22(6):590-593. doi: 10.1177/1093526619860362. Epub 2019 Jul 23.
Pediatr Dev Pathol. 2019.
PMID: 31333056
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Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Reuter MS, MacDonald JR, Ko SY, Frankland PW, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV; Undiagnosed Diseases Network; Douine ED, Russell BE, Nelson SF, Zara F, Scherer SW.
Scala M, et al.
medRxiv [Preprint]. 2023 Dec 27:2023.12.21.23300383. doi: 10.1101/2023.12.21.23300383.
medRxiv. 2023.
PMID: 38234782
Free PMC article.
Preprint.
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Identification of the sex-determining locus of Atlantic salmon (Salmo salar) on chromosome 2.
Artieri CG, Mitchell LA, Ng SH, Parisotto SE, Danzmann RG, Hoyheim B, Phillips RB, Morasch M, Koop BF, Davidson WS.
Artieri CG, et al. Among authors: parisotto se.
Cytogenet Genome Res. 2006;112(1-2):152-9. doi: 10.1159/000087528.
Cytogenet Genome Res. 2006.
PMID: 16276105
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A physical map of the genome of Atlantic salmon, Salmo salar.
Ng SH, Artieri CG, Bosdet IE, Chiu R, Danzmann RG, Davidson WS, Ferguson MM, Fjell CD, Hoyheim B, Jones SJ, de Jong PJ, Koop BF, Krzywinski MI, Lubieniecki K, Marra MA, Mitchell LA, Mathewson C, Osoegawa K, Parisotto SE, Phillips RB, Rise ML, von Schalburg KR, Schein JE, Shin H, Siddiqui A, Thorsen J, Wye N, Yang G, Zhu B.
Ng SH, et al. Among authors: parisotto se.
Genomics. 2005 Oct;86(4):396-404. doi: 10.1016/j.ygeno.2005.06.001.
Genomics. 2005.
PMID: 16026963
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