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

Year Number of Results
1995 2
2008 1
2010 2
2011 1
2012 5
2013 10
2014 6
2015 6
2016 7
2017 6
2018 4
2019 4
2020 3
2021 2
2022 6
2023 1
2024 2

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63 results

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Page 1
Genetic disorders of thyroid development, hormone biosynthesis and signalling.
Moran C, Schoenmakers N, Visser WE, Schoenmakers E, Agostini M, Chatterjee K. Moran C, et al. Among authors: schoenmakers n. Clin Endocrinol (Oxf). 2022 Oct;97(4):502-514. doi: 10.1111/cen.14817. Epub 2022 Sep 5. Clin Endocrinol (Oxf). 2022. PMID: 35999191 Free PMC article. Review.
Recent advances in central congenital hypothyroidism.
Schoenmakers N, Alatzoglou KS, Chatterjee VK, Dattani MT. Schoenmakers N, et al. J Endocrinol. 2015 Dec;227(3):R51-71. doi: 10.1530/JOE-15-0341. Epub 2015 Sep 28. J Endocrinol. 2015. PMID: 26416826 Free PMC article. Review.
Approach to the Patient With Raised Thyroid Hormones and Nonsuppressed TSH.
Moran C, Schoenmakers N, Halsall D, Oddy S, Lyons G, van den Berg S, Gurnell M, Chatterjee K. Moran C, et al. Among authors: schoenmakers n. J Clin Endocrinol Metab. 2024 Mar 15;109(4):1094-1108. doi: 10.1210/clinem/dgad681. J Clin Endocrinol Metab. 2024. PMID: 37988295 Free PMC article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
Semantic prioritization of novel causative genomic variants.
Boudellioua I, Mahamad Razali RB, Kulmanov M, Hashish Y, Bajic VB, Goncalves-Serra E, Schoenmakers N, Gkoutos GV, Schofield PN, Hoehndorf R. Boudellioua I, et al. Among authors: schoenmakers n. PLoS Comput Biol. 2017 Apr 17;13(4):e1005500. doi: 10.1371/journal.pcbi.1005500. eCollection 2017 Apr. PLoS Comput Biol. 2017. PMID: 28414800 Free PMC article.
Whole-genome sequence-based analysis of thyroid function.
Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG; UK0K Consortium. Taylor PN, et al. Nat Commun. 2015 Mar 6;6:5681. doi: 10.1038/ncomms6681. Nat Commun. 2015. PMID: 25743335 Free PMC article.
63 results