Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome

By Doné S.C.  

Human Molecular Genetics, Vol. 10, Iss. 23, 2001-11 ,pp. : 2637-2644

Oxford University Press

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Genotype–phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype

By Alonso M.E.  

Human Molecular Genetics, Vol. 11, Iss. 11, 2002-05 ,pp. : 1263-1271

Oxford University Press

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Molecular basis of the functional podocin–nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains

By Huber Tobias B.  

Human Molecular Genetics, Vol. 12, Iss. 24, 2003-12 ,pp. : 3397-3405

Oxford University Press

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Williams–Beuren syndrome: a challenge for genotype–phenotype correlations

By Tassabehji M.  

Human Molecular Genetics, Vol. 12, Iss. 2, 2003-10 ,pp. : 229-237

Oxford University Press

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Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype–phenotype correlations

By Sévenet Nicolas   Lellouch-Tubiana Arielle  

Human Molecular Genetics, Vol. 8, Iss. 13, 1999-12 ,pp. : 2359-2368

Oxford University Press

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