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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1980 | 1 |
2004 | 1 |
2007 | 1 |
2010 | 1 |
2011 | 1 |
2012 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 65062
6 results
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A population-based study of autosomal-recessive disease-causing mutations in a founder population.
Am J Hum Genet. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13.
Am J Hum Genet. 2012.
PMID: 22981120
Free PMC article.
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Müller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nürnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM.
Huang L, et al.
Am J Hum Genet. 2011 Dec 9;89(6):713-30. doi: 10.1016/j.ajhg.2011.11.005.
Am J Hum Genet. 2011.
PMID: 22152675
Free PMC article.
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Deciphering the structure and function of Als2cr4 in the mouse retina.
Zuniga FI, Craft CM.
Zuniga FI, et al.
Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4407-15. doi: 10.1167/iovs.10-5251. Epub 2010 Apr 7.
Invest Ophthalmol Vis Sci. 2010.
PMID: 20375344
Free PMC article.
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Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.
Boycott KM, Parboosingh JS, Scott JN, McLeod DR, Greenberg CR, Fujiwara TM, Mah JK, Midgley J, Wade A, Bernier FP, Chodirker BN, Bunge M, Innes AM.
Boycott KM, et al.
Am J Med Genet A. 2007 Aug 1;143A(15):1715-25. doi: 10.1002/ajmg.a.31832.
Am J Med Genet A. 2007.
PMID: 17603801
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Joubert-like syndrome unlinked to known candidate loci.
Janecke AR, Müller T, Gassner I, Kreczy A, Schmid E, Kronenberg F, Utermann B, Utermann G.
Janecke AR, et al.
J Pediatr. 2004 Feb;144(2):264-9. doi: 10.1016/j.jpeds.2003.11.010.
J Pediatr. 2004.
PMID: 14760273
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The Meckel syndrome in the Hutterites.
Schurig V, Bowen P, Harley F, Schiff D.
Schurig V, et al.
Am J Med Genet. 1980;5(4):373-81. doi: 10.1002/ajmg.1320050408.
Am J Med Genet. 1980.
PMID: 7395917
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