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

Year Number of Results
1999 1
2000 1
2007 1
2008 1
2009 1
2010 1
2011 4
2012 2
2013 2
2014 2
2015 3
2016 4
2017 5
2018 7
2019 7
2020 6
2021 2
2022 7
2023 9
2024 3

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61 results

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Page 1
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Pagnamenta AT, Kaisaki PJ, Bennett F, Burkitt-Wright E, Martin HC, Ferla MP, Taylor JM, Gompertz L, Lahiri N, Tatton-Brown K, Newbury-Ecob R, Henderson A, Joss S, Weber A, Carmichael J, Turnpenny PD, McKee S, Forzano F, Ashraf T, Bradbury K, Shears D, Kini U, de Burca A; DDD Study; Blair E, Taylor JC, Stewart H. Pagnamenta AT, et al. Among authors: lahiri n. Clin Genet. 2019 Jun;95(6):693-703. doi: 10.1111/cge.13533. Epub 2019 Apr 3. Clin Genet. 2019. PMID: 30859559 Free PMC article.
Diagnostic genetic testing for Huntington's disease.
Craufurd D, MacLeod R, Frontali M, Quarrell O, Bijlsma EK, Davis M, Hjermind LE, Lahiri N, Mandich P, Martinez A, Tibben A, Roos RA; Working Group on Genetic Counselling and Testing of the European Huntington's Disease Network (EHDN). Craufurd D, et al. Among authors: lahiri n. Pract Neurol. 2015 Feb;15(1):80-4. doi: 10.1136/practneurol-2013-000790. Epub 2014 Aug 28. Pract Neurol. 2015. PMID: 25169240 Review. No abstract available.
The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.
Foster A, Zachariou A, Loveday C, Ashraf T, Blair E, Clayton-Smith J, Dorkins H, Fryer A, Gener B, Goudie D, Henderson A, Irving M, Joss S, Keeley V, Lahiri N, Lynch SA, Mansour S, McCann E, Morton J, Motton N, Murray A, Riches K, Shears D, Stark Z, Thompson E, Vogt J, Wright M, Cole T, Tatton-Brown K. Foster A, et al. Among authors: lahiri n. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):502-508. doi: 10.1002/ajmg.c.31738. Epub 2019 Sep 3. Am J Med Genet C Semin Med Genet. 2019. PMID: 31479583 Review.
Huntington disease: a tale of two genes.
Lahiri N, Tabrizi SJ. Lahiri N, et al. Neurology. 2009 Oct 20;73(16):1254-5. doi: 10.1212/WNL.0b013e3181beed15. Epub 2009 Sep 23. Neurology. 2009. PMID: 19776377 No abstract available.
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability.
Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T, Dolzhenko E, Martin-Trujillo A, Gies SL, Rocca C, Barbosa M, Jain M, Lahiri N, Lachlan K, Houlden H, Paten B; Genomics England Research Consortium; Project MinE ALS Sequencing Consortium; Veldink J, Tucci A, Sharp AJ. Jadhav B, et al. Among authors: lahiri n. medRxiv [Preprint]. 2023 Dec 12:2023.05.03.23289461. doi: 10.1101/2023.05.03.23289461. medRxiv. 2023. PMID: 37205357 Free PMC article. Preprint.
61 results