Compound heterozygous myotonic dystrophy type 1

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John Wiley & Sons Inc

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TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

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Human Molecular Genetics, Vol. 19, Iss. 14, 2010-07 ,pp. : 2817-2827

Oxford University Press

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Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations ( CCM1 )

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Human Molecular Genetics, Vol. 8, Iss. 12, 1999-11 ,pp. : 2325-2333

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Homozygous and Compound Heterozygous Mutations at the Werner Syndrome Locus

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Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage

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