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Year | Number of Results |
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2012 | 1 |
2013 | 2 |
2014 | 1 |
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2023 | 1 |
2024 | 0 |
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Page 1
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22.
Nat Genet. 2014.
PMID: 24362816
Free PMC article.
The KIDNEYCODE Program: Diagnostic Yield and Clinical Features of Individuals with CKD.
Lieberman KV, Chang AR, Block GA, Robinson K, Bristow SL, Morales A, Mitchell A, McCalley S, McKay J, Pollak MR, Aradhya S, Warady BA.
Lieberman KV, et al. Among authors: robinson k.
Kidney360. 2022 Mar 10;3(5):900-909. doi: 10.34067/KID.0004162021. eCollection 2022 May 26.
Kidney360. 2022.
PMID: 36128480
Free PMC article.
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Multigene Panel Testing in a Large Cohort of Adults With Epilepsy: Diagnostic Yield and Clinically Actionable Genetic Findings.
McKnight D, Bristow SL, Truty RM, Morales A, Stetler M, Westbrook MJ, Robinson K, Riethmaier D, Borlot F, Kellogg M, Hwang ST, Berg A, Aradhya S.
McKnight D, et al. Among authors: robinson k.
Neurol Genet. 2021 Dec 16;8(1):e650. doi: 10.1212/NXG.0000000000000650. eCollection 2022 Feb.
Neurol Genet. 2021.
PMID: 34926809
Free PMC article.
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X-Linked Osteogenesis Imperfecta Possibly Caused by a Novel Variant in PLS3.
Brlek P, Antičević D, Molnar V, Matišić V, Robinson K, Aradhya S, Krpan D, Primorac D.
Brlek P, et al. Among authors: robinson k.
Genes (Basel). 2021 Nov 23;12(12):1851. doi: 10.3390/genes12121851.
Genes (Basel). 2021.
PMID: 34946798
Free PMC article.
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Epstein-Barr virus-positive primary diffuse large B-cell lymphoma of the urinary bladder: a case report.
Sain B, Blake M, Goyal K, Kaur H, Robinson K.
Sain B, et al. Among authors: robinson k.
J Surg Case Rep. 2023 Mar 9;2023(3):rjad111. doi: 10.1093/jscr/rjad111. eCollection 2023 Mar.
J Surg Case Rep. 2023.
PMID: 36908691
Free PMC article.
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Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ.
Bisschoff IJ, et al. Among authors: robinson kl.
Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17.
Hum Mutat. 2013.
PMID: 23033313
Free PMC article.
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