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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Le Meur, N ; Holder-Espinasse, M ; Jaillard, S ; Goldenberg, A ; Joriot, S ; Amati-Bonneau, P ; Guichet, A ; Barth, M ; Charollais, A ; Journel, H ; Auvin, S ; Boucher, C ; Kerckaert, J-P ; David, V ; Manouvrier-Hanu, S ; Saugier-Veber, P ; Frébourg, T ; Dubourg, C ; Andrieux, J ; Bonneau, D

Journal of medical genetics, 2010-01, Vol.47 (1), p.22-29 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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2
Nanoliposomal ceramide prevents in vivo growth of hepatocellular carcinoma
Nanoliposomal ceramide prevents in vivo growth of hepatocellular carcinoma
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Nanoliposomal ceramide prevents in vivo growth of hepatocellular carcinoma

Tagaram, Hephzibah Rani S ; DiVittore, Nicole A ; Barth, Brian M ; Kaiser, James M ; Avella, Diego ; Kimchi, Eric T ; Jiang, Yixing ; Isom, Harriet C ; Kester, Mark ; Staveley-O'Carroll, Kevin F

Gut, 2011-05, Vol.60 (5), p.695-701 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd and British Society of Gastroenterology

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3
Metabolism of short-chain ceramide by human cancer cells—Implications for therapeutic approaches
Metabolism of short-chain ceramide by human cancer cells—Implications for therapeutic approaches
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Metabolism of short-chain ceramide by human cancer cells—Implications for therapeutic approaches

Chapman, Jacqueline V. ; Gouazé-Andersson, Valérie ; Messner, Maria C. ; Flowers, Margaret ; Karimi, Ramin ; Kester, Mark ; Barth, Brian M. ; Liu, Xin ; Liu, Yong-Yu ; Giuliano, Armando E. ; Cabot, Myles C.

Biochemical pharmacology, 2010-08, Vol.80 (3), p.308-315 [Periódico revisado por pares]

Amsterdam: Elsevier Inc

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4
Propionic acidemia: neonatal versus selective metabolic screening
Propionic acidemia: neonatal versus selective metabolic screening
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Propionic acidemia: neonatal versus selective metabolic screening

Grünert, S. C. ; Müllerleile, S. ; de Silva, L. ; Barth, M. ; Walter, M. ; Walter, K. ; Meissner, T. ; Lindner, M. ; Ensenauer, R. ; Santer, R. ; Bodamer, O. A. ; Baumgartner, M. R. ; Brunner-Krainz, M. ; Karall, D. ; Haase, C. ; Knerr, I. ; Marquardt, T. ; Hennermann, J. B. ; Steinfeld, R. ; Beblo, S. ; Koch, H. G. ; Konstantopoulou, V. ; Scholl-Bürgi, S. ; van Teeffelen-Heithoff, A. ; Suormala, T. ; Sperl, W. ; Kraus, J. P. ; Superti-Furga, A. ; Schwab, K. O. ; Sass, J. O.

Journal of inherited metabolic disease, 2012-01, Vol.35 (1), p.41-49 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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5
Evaluation of preoperative high magnetic field motor functional MRI (3 Tesla) in glioma patients by navigated electrocortical stimulation and postoperative outcome
Evaluation of preoperative high magnetic field motor functional MRI (3 Tesla) in glioma patients by navigated electrocortical stimulation and postoperative outcome
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Evaluation of preoperative high magnetic field motor functional MRI (3 Tesla) in glioma patients by navigated electrocortical stimulation and postoperative outcome

Roessler, K ; Donat, M ; Lanzenberger, R ; Novak, K ; Geissler, A ; Gartus, A ; Tahamtan, A R ; Milakara, D ; Czech, T ; Barth, M ; Knosp, E ; Beisteiner, R

Journal of neurology, neurosurgery and psychiatry, 2005-08, Vol.76 (8), p.1152-1157 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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6
Converging effects of Ginkgo biloba extract at the level of transmitter release, NMDA and sodium currents and dendritic spikes
Converging effects of Ginkgo biloba extract at the level of transmitter release, NMDA and sodium currents and dendritic spikes
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Converging effects of Ginkgo biloba extract at the level of transmitter release, NMDA and sodium currents and dendritic spikes

Szasz, Bernadett K ; Lenkey, Nora ; Barth, Albert M.I ; Mike, Arpad ; Somogyvari, Zsolt ; Farkas, Orsolya ; Lendvai, Balazs

Planta medica, 2008-08, Vol.74 (10), p.1235-1239 [Periódico revisado por pares]

Stuttgart: Thieme

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7
Neuro-Endocrine and Neuropsychological Outcome After Aneurysmal Subarachnoid Hemorrhage (asah): A Prospective Cohort Study
Neuro-Endocrine and Neuropsychological Outcome After Aneurysmal Subarachnoid Hemorrhage (asah): A Prospective Cohort Study
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Neuro-Endocrine and Neuropsychological Outcome After Aneurysmal Subarachnoid Hemorrhage (asah): A Prospective Cohort Study

Lammert, A. ; Bode, H. ; Hammes, H.-P. ; Birck, R. ; Fatar, M. ; Zohsel, K. ; Braun, J. ; Schmieder, K. ; Diepers, M. ; Schubert, G. A. ; Barth, M. ; Thomé, C. ; Seiz, M.

Experimental and clinical endocrinology & diabetes, 2011-02, Vol.119 (2), p.111-116 [Periódico revisado por pares]

Stuttgart: Thieme

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8
Mutation analysis in 54 propionic acidemia patients
Mutation analysis in 54 propionic acidemia patients
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Mutation analysis in 54 propionic acidemia patients

Kraus, J. P. ; Spector, E. ; Venezia, S. ; Estes, P. ; Chiang, P. W. ; Creadon-Swindell, G. ; Müllerleile, S. ; de Silva, L. ; Barth, M. ; Walter, M. ; Walter, K. ; Meissner, T. ; Lindner, M. ; Ensenauer, R. ; Santer, R. ; Bodamer, O. A. ; Baumgartner, M. R. ; Brunner-Krainz, M. ; Karall, D. ; Haase, C. ; Knerr, I. ; Marquardt, T. ; Hennermann, J. B. ; Steinfeld, R. ; Beblo, S. ; Koch, H. G. ; Konstantopoulou, V. ; Scholl-Bürgi, S. ; van Teeffelen-Heithoff, A. ; Suormala, T. ; Ugarte, M. ; Sperl, W. ; Superti-Furga, A. ; Schwab, K. O. ; Grünert, S. C. ; Sass, J. O.

Journal of inherited metabolic disease, 2012, Vol.35 (1), p.51-63 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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9
Univariate and multivariate family-based association analysis of the IL-13 ARG130GLN polymorphism in the Childhood Asthma Management program
Univariate and multivariate family-based association analysis of the IL-13 ARG130GLN polymorphism in the Childhood Asthma Management program
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Univariate and multivariate family-based association analysis of the IL-13 ARG130GLN polymorphism in the Childhood Asthma Management program

DeMeo, D.L. ; Lange, c. ; Silverman, E.K. ; Senter, J.M. ; Drazen, J.M. ; Barth, M.J. ; Laird, N. ; Weiss, S.T.

Genetic epidemiology, 2002-11, Vol.23 (4), p.335-348 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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10
Emotion Knowledge in Children and Adolescents With Down Syndrome: A New Methodological Approach
Emotion Knowledge in Children and Adolescents With Down Syndrome: A New Methodological Approach
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Emotion Knowledge in Children and Adolescents With Down Syndrome: A New Methodological Approach

CHANNELL, Marie Moore ; CONNERS, Frances A ; BARTH, Joan M

American journal on intellectual and developmental disabilities, 2014-09, Vol.119 (5), p.405-421 [Periódico revisado por pares]

Washington, DC: American Association on Intellectual and Developmental Disabilities

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