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Year | Number of Results |
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2014 | 2 |
2015 | 2 |
2016 | 1 |
2024 | 0 |
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Molecular and cellular basis of autosomal recessive primary microcephaly.
Biomed Res Int. 2014;2014:547986. doi: 10.1155/2014/547986. Epub 2014 Dec 8.
Biomed Res Int. 2014.
PMID: 25548773
Free PMC article.
Review.
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
Barbelanne M, Hossain D, Chan DP, Peränen J, Tsang WY.
Barbelanne M, et al.
Hum Mol Genet. 2015 Apr 15;24(8):2185-200. doi: 10.1093/hmg/ddu738. Epub 2014 Dec 30.
Hum Mol Genet. 2015.
PMID: 25552655
Free PMC article.
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Exome sequencing identifies recessive CDK5RAP2 variants in patients with isolated agenesis of corpus callosum.
Jouan L, Ouled Amar Bencheikh B, Daoud H, Dionne-Laporte A, Dobrzeniecka S, Spiegelman D, Rochefort D, Hince P, Szuto A, Lassonde M, Barbelanne M, Tsang WY, Dion PA, Théoret H, Rouleau GA.
Jouan L, et al.
Eur J Hum Genet. 2016 Apr;24(4):607-10. doi: 10.1038/ejhg.2015.156. Epub 2015 Jul 22.
Eur J Hum Genet. 2016.
PMID: 26197979
Free PMC article.
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