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Results by year

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

Year Number of Results
1978 1
1993 1
2000 2
2004 1
2005 3
2006 2
2007 5
2008 1
2010 2
2011 3
2012 4
2013 2
2014 5
2015 6
2016 6
2017 2
2024 0

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PubMed (Bookshelf cited) for id: 333142

41 results

Results by year

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Page 1
The RAB GTPase RAB18 modulates macroautophagy and proteostasis.
Feldmann A, Bekbulat F, Huesmann H, Ulbrich S, Tatzelt J, Behl C, Kern A. Feldmann A, et al. Biochem Biophys Res Commun. 2017 May 6;486(3):738-743. doi: 10.1016/j.bbrc.2017.03.112. Epub 2017 Mar 22. Biochem Biophys Res Commun. 2017. PMID: 28342870 Free article.
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
Patel N, Anand D, Monies D, Maddirevula S, Khan AO, Algoufi T, Alowain M, Faqeih E, Alshammari M, Qudair A, Alsharif H, Aljubran F, Alsaif HS, Ibrahim N, Abdulwahab FM, Hashem M, Alsedairy H, Aldahmesh MA, Lachke SA, Alkuraya FS. Patel N, et al. Hum Genet. 2017 Feb;136(2):205-225. doi: 10.1007/s00439-016-1747-6. Epub 2016 Nov 22. Hum Genet. 2017. PMID: 27878435 Free PMC article.
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome.
Imagawa E, Fukai R, Behnam M, Goyal M, Nouri N, Nakashima M, Tsurusaki Y, Saitsu H, Salehi M, Kapoor S, Tanaka F, Miyake N, Matsumoto N. Imagawa E, et al. Hum Genome Var. 2015 Sep 17;2:15034. doi: 10.1038/hgv.2015.34. eCollection 2015. Hum Genome Var. 2015. PMID: 27081543 Free PMC article.
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
Rump P, Jazayeri O, van Dijk-Bos KK, Johansson LF, van Essen AJ, Verheij JB, Veenstra-Knol HE, Redeker EJ, Mannens MM, Swertz MA, Alizadeh BZ, van Ravenswaaij-Arts CM, Sinke RJ, Sikkema-Raddatz B. Rump P, et al. BMC Med Genomics. 2016 Feb 4;9:7. doi: 10.1186/s12920-016-0167-8. BMC Med Genomics. 2016. PMID: 26846091 Free PMC article.
Consanguinity as an Adjunct Diagnostic Tool.
Srivastava P, Saxena D, Joshi S, Phadke SR. Srivastava P, et al. Indian J Pediatr. 2016 Mar;83(3):258-60. doi: 10.1007/s12098-015-1764-9. Epub 2015 Jul 4. Indian J Pediatr. 2016. PMID: 26138576
41 results