MeCP2 mutations in children with and without the phenotype of Rett syndrome von HOFFBUHR, K, DEVANEY, J. M, NARAYANAN, V, UMANSKY, R, KRONN, D, HOFFMAN, E. P, NAIDU, S, LAFLEUR, B, SIRIANNI, N, SCACHERI, C, GIRON, J, SCHUETTE, J, INNIS, J, MARINO, M, PHILIPPART, M

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A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria von Keightley, J. Andrew, Hoffbuhr, Kristen C, Burton, Miriam D, Salas, Virginia M, Johnston, Wendy S.W, Penn, Andrew M.W, Buist, Neil R.M, Kennaway, Nancy G

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A Pathogenic 15-Base Pair Deletion in Mitochondrial DNA-encoded Cytochrome c Oxidase Subunit III Results in the Absence of Functional Cytochrome c Oxidase von Hoffbuhr, Kristen C., Davidson, Edgar, Filiano, Beth A., Davidson, Mercy, Kennaway, Nancy G., King, Michael P.

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Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy von Antonicka, Hana, Mattman, Andre, Carlson, Christopher G., Glerum, D. Moira, Hoffbuhr, Kristen C., Leary, Scot C., Kennaway, Nancy G., Shoubridge, Eric A.

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Olfactory biopsies demonstrate a defect in neuronal development in Rett's syndrome von Ronnett, Gabriele V., Leopold, Donald, Cai, Xiaohe, Hoffbuhr, Kristen C., Moses, Linda, Hoffman, Eric P., Naidu, Sakkubai

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Associations between meCP2 mutations, x-chromosome inactivation, and phenotype von Hoffbuhr, K. C., Moses, L. M., Jerdonek, M. A., Naidu, S., Hoffman, E. P.

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Social facilitation of object-oriented hand use in a Rett syndrome variant girl : Implications for partial preservation of an hypothesized specialized cerebral network von UMANSKY, Richard, WATSON, John S, HOFFBUHR, Kristen, PAINTER, Kathleen M, DEVANEY, Joseph, HOFFMAN, Eric

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Rapid Genotyping of Common MeCP2 Mutations with an Electronic DNA Microchip Using Serial Differential Hybridization von Thistlethwaite, William A., Moses, Linda M., Hoffbuhr, Kristen C., Devaney, Joseph M., Hoffman, Eric P.

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Lack of evidence for maternal effect in familial Alzheimer's disease von Payami, Haydeh, Hoffbuhr, Kristen

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Associations between MECP2 mutations, X-chromosome inactivation, and phenotype: Rett syndrome von HOFFBUHR, K. C, MOSES, L. M, JERDONEK, M. A, NAIDU, S, HOFFMAN, E. P

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media pulse: AWWA Bookstore: Books von Lauer, William C., Barsotti, Michael G., Hardy, David K., Hoffbuhr, Jack

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