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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2005 | 1 |
2015 | 2 |
2016 | 2 |
2017 | 1 |
2024 | 0 |
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4 results
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Page 1
Molecular diagnostic experience of whole-exome sequencing in adult patients.
Genet Med. 2016 Jul;18(7):678-85. doi: 10.1038/gim.2015.142. Epub 2015 Dec 3.
Genet Med. 2016.
PMID: 26633545
Free PMC article.
Splicing in action: assessing disease causing sequence changes.
Baralle D, Baralle M.
Baralle D, et al.
J Med Genet. 2005 Oct;42(10):737-48. doi: 10.1136/jmg.2004.029538.
J Med Genet. 2005.
PMID: 16199547
Free PMC article.
Review.
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Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.
Hunter JM, Ahearn ME, Balak CD, Liang WS, Kurdoglu A, Corneveaux JJ, Russell M, Huentelman MJ, Craig DW, Carpten J, Coons SW, DeMello DE, Hall JG, Bernes SM, Baumbach-Reardon L.
Hunter JM, et al.
Mol Genet Genomic Med. 2015 Jul;3(4):283-301. doi: 10.1002/mgg3.142. Epub 2015 Apr 8.
Mol Genet Genomic Med. 2015.
PMID: 26247046
Free PMC article.
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Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J.
Schartner V, et al.
Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23.
Acta Neuropathol. 2017.
PMID: 28012042
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