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Results by year

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

Year Number of Results
1980 1
1987 2
1989 1
1990 1
1992 3
1994 2
1995 1
1996 1
1997 1
2000 2
2002 3
2006 3
2007 3
2008 3
2009 2
2010 2
2011 6
2012 1
2013 2
2014 2
2016 1
2017 1
2018 1
2019 4
2020 1
2021 3
2022 2
2024 0

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PubMed for id: 372142

50 results

Results by year

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Page 1
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.
Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS. Alazami AM, et al. Clin Genet. 2010 Dec;78(6):585-90. doi: 10.1111/j.1399-0004.2010.01441.x. Clin Genet. 2010. PMID: 20507343
Alopecia/mental retardation syndrome.
Hannig VL, Tiller GE. Hannig VL, et al. Am J Med Genet. 1995 Aug 28;58(2):123-4. doi: 10.1002/ajmg.1320580206. Am J Med Genet. 1995. PMID: 8533801 Review.
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.
Strong A, March ME, Cardinale CJ, Kim SE, Merves J, Whitworth H, Raffini L, Larosa C, Copelovitch L, Hou C, Slater D, Vaccaro C, Watson D, Zackai EH, Billheimer J, Hakonarson H. Strong A, et al. Am J Med Genet A. 2022 Feb;188(2):463-472. doi: 10.1002/ajmg.a.62537. Epub 2021 Oct 15. Am J Med Genet A. 2022. PMID: 34655156 Free PMC article.
50 results