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Year | Number of Results |
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2017 | 2 |
2018 | 1 |
2023 | 1 |
2024 | 0 |
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Page 1
Galectin-3 Is Associated with Cardiac Fibrosis and an Increased Risk of Sudden Death.
Cells. 2023 Apr 23;12(9):1218. doi: 10.3390/cells12091218.
Cells. 2023.
PMID: 37174619
Free PMC article.
Review.
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.
Webb BD, Metikala S, Wheeler PG, Sherpa MD, Houten SM, Horb ME, Schadt EE.
Webb BD, et al. Among authors: sherpa md.
Hum Mutat. 2017 Apr;38(4):373-377. doi: 10.1002/humu.23171. Epub 2017 Feb 2.
Hum Mutat. 2017.
PMID: 28054444
Free PMC article.
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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.
Lake NJ, et al. Among authors: sherpa md.
Am J Hum Genet. 2018 Apr 5;102(4):713. doi: 10.1016/j.ajhg.2018.03.015.
Am J Hum Genet. 2018.
PMID: 29625026
Free PMC article.
No abstract available.
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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ, Webb BD, Stroud DA, Richman TR, Ruzzenente B, Compton AG, Mountford HS, Pulman J, Zangarelli C, Rio M, Boddaert N, Assouline Z, Sherpa MD, Schadt EE, Houten SM, Byrnes J, McCormick EM, Zolkipli-Cunningham Z, Haude K, Zhang Z, Retterer K, Bai R, Calvo SE, Mootha VK, Christodoulou J, Rötig A, Filipovska A, Cristian I, Falk MJ, Metodiev MD, Thorburn DR.
Lake NJ, et al. Among authors: sherpa md.
Am J Hum Genet. 2017 Aug 3;101(2):239-254. doi: 10.1016/j.ajhg.2017.07.005.
Am J Hum Genet. 2017.
PMID: 28777931
Free PMC article.
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