Publication | Closed Access
Mutation spectrum and phenotypic manifestation in FSHD Greek patients
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Citations
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References
2012
Year
Mutation SpectrumMendelian DisorderGenetic DisorderGeneticsPathologyDisease Gene IdentificationMedicineLysosomal Storage Disease
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1988 | 20.4K | |
2010 | 756 | |
1992 | 662 | |
1993 | 525 | |
2010 | 479 | |
2002 | 386 | |
<i>DUX4</i> , a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of <i>PITX1</i> Manjusha Dixit, Eugénie Ansseau, Alexandra Tassin, Proceedings of the National Academy of Sciences Transcriptional RegulationFacioscapulohumeral Muscular DystrophyDevelopmental BiologyGenetic DisorderGenetics | 2007 | 368 |
1994 | 322 | |
2007 | 315 | |
2008 | 303 |
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