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

Year Number of Results
1951 1
1978 1
1980 2
1981 2
1982 6
1983 3
1991 1
2001 1
2004 2
2005 5
2006 3
2007 1
2008 4
2009 1
2010 3
2011 4
2012 1
2013 5
2014 3
2016 1
2017 2
2018 1
2020 3
2024 0

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54 results

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Page 1
RMRP mutations in cartilage-hair hypoplasia.
Hermanns P, Tran A, Munivez E, Carter S, Zabel B, Lee B, Leroy JG. Hermanns P, et al. Am J Med Genet A. 2006 Oct 1;140(19):2121-30. doi: 10.1002/ajmg.a.31331. Am J Med Genet A. 2006. PMID: 16838329
Brachy-syndactyly caused by loss of Sfrp2 function.
Morello R, Bertin TK, Schlaubitz S, Shaw CA, Kakuru S, Munivez E, Hermanns P, Chen Y, Zabel B, Lee B. Morello R, et al. Among authors: hermanns p. J Cell Physiol. 2008 Oct;217(1):127-37. doi: 10.1002/jcp.21483. J Cell Physiol. 2008. PMID: 18446812 Free PMC article.
Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.
Tenenbaum-Rakover Y, Turgeon MO, London S, Hermanns P, Pohlenz J, Bernard DJ, Bercovich D. Tenenbaum-Rakover Y, et al. Among authors: hermanns p. Thyroid. 2016 Dec;26(12):1693-1700. doi: 10.1089/thy.2015.0672. Epub 2016 Jul 25. Thyroid. 2016. PMID: 27310681
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism.
Choukair D, Eberle B, Vick P, Hermanns P, Weiss B, Paramasivam N, Schlesner M, Lornsen K, Roeth R, Klutmann C, Kreis J, Hoffmann GF, Pohlenz J, Rappold GA, Bettendorf M. Choukair D, et al. Among authors: hermanns p. Horm Res Paediatr. 2020;93(1):16-29. doi: 10.1159/000507114. Epub 2020 May 19. Horm Res Paediatr. 2020. PMID: 32428920
The natural history of severe anemia in cartilage-hair hypoplasia.
Williams MS, Ettinger RS, Hermanns P, Lee B, Carlsson G, Taskinen M, Mäkitie O. Williams MS, et al. Among authors: hermanns p. Am J Med Genet A. 2005 Sep 15;138(1):35-40. doi: 10.1002/ajmg.a.30902. Am J Med Genet A. 2005. PMID: 16097009
54 results