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

Year Number of Results
2009 1
2011 3
2012 2
2013 5
2014 6
2015 5
2016 5
2017 1
2018 2
2019 3
2020 1
2021 5
2022 1
2024 0

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Page 1
The G209R mutant mouse as a model for human PCSK1 polyendocrinopathy.
Shakya M, Gahlot S, Martin NK, Arunagiri A, Martin MG, Arvan P, Low MJ, Lindberg I. Shakya M, et al. Endocrinology. 2022 Mar 4;163(5):bqac024. doi: 10.1210/endocr/bqac024. Online ahead of print. Endocrinology. 2022. PMID: 35245347 Free PMC article.
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Mis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez-Agosto JA, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M; Undiagnosed Diseases Network; Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA. Mis EK, et al. Am J Med Genet A. 2021 Apr;185(4):1076-1080. doi: 10.1002/ajmg.a.62064. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33438828 Free PMC article.
Null mutations of NEUROG3 are associated with delayed-onset diabetes mellitus.
Solorzano-Vargas RS, Bjerknes M, Wang J, Wu SV, Garcia-Careaga MG, Pitukcheewanont P, Cheng H, German MS, Georgia S, Martín MG. Solorzano-Vargas RS, et al. JCI Insight. 2020 Jan 16;5(1):e127657. doi: 10.1172/jci.insight.127657. JCI Insight. 2020. PMID: 31805014 Free PMC article.
Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis.
Gupta A, Sanville J, Menz T, Warner N, Muise AM, Fiedler K, Martín MG, Padbury J, Phornphutkul C, Sanchez-Esteban J, Cerezo CS. Gupta A, et al. J Pediatr Gastroenterol Nutr. 2019 Jun;68(6):e106-e108. doi: 10.1097/MPG.0000000000002258. J Pediatr Gastroenterol Nutr. 2019. PMID: 30633106 Free PMC article. No abstract available.
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Pathak SJ, Mueller JL, Okamoto K, Das B, Hertecant J, Greenhalgh L, Cole T, Pinsk V, Yerushalmi B, Gurkan OE, Yourshaw M, Hernandez E, Oesterreicher S, Naik S, Sanderson IR, Axelsson I, Agardh D, Boland CR, Martin MG, Putnam CD, Sivagnanam M. Pathak SJ, et al. Hum Mutat. 2019 Feb;40(2):142-161. doi: 10.1002/humu.23688. Epub 2018 Nov 29. Hum Mutat. 2019. PMID: 30461124 Free PMC article.
36 results