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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 4
2013 7
2014 5
2015 2
2016 6
2017 5
2018 4
2019 2
2020 3
2021 2
2022 6
2023 1
2024 2

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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.
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.
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
Cangul H, Liao XH, Schoenmakers E, Kero J, Barone S, Srichomkwun P, Iwayama H, Serra EG, Saglam H, Eren E, Tarim O, Nicholas AK, Zvetkova I, Anderson CA, Frankl FEK, Boelaert K, Ojaniemi M, Jääskeläinen J, Patyra K, Löf C, Williams ED; UK10K Consortium; Soleimani M, Barrett T, Maher ER, Chatterjee VK, Refetoff S, Schoenmakers N. Cangul H, et al. Among authors: schoenmakers n. JCI Insight. 2018 Oct 18;3(20):e99631. doi: 10.1172/jci.insight.99631. JCI Insight. 2018. PMID: 30333321 Free PMC article.
50 results