Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease

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Human Molecular Genetics, Vol. 14, Iss. 15, 2005-08 ,pp. : 2099-2111

Oxford University Press

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Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities

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Human Molecular Genetics, Vol. 13, Iss. 19, 2004-10 ,pp. : 2313-2324

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Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis

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Human Molecular Genetics, Vol. 19, Iss. 7, 2010-04 ,pp. : 1302-1313

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Analysis of Germline Variation at the FMR1 CGG Repeat Shows Variation in the Normal-Premutated Borderline Range

By Monet Etienne   Chateau Corinne   Hirst Mark C.   Thepot François   Taillandier Agnès   Cibois Olivier   Serre Jean-Louis  

Human Molecular Genetics, Vol. 5, Iss. 6, 1996-01 ,pp. : 821-825

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Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems

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