Bilaketaren emaitzak - Christian P. Schaaf

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  1. 1
    Nicotinic acetylcholine receptors in human genetic disease

    Nicotinic acetylcholine receptors in human genetic disease nork Christian P. Schaaf

    Argitaratua 2014
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  2. 2
    Solving the Autism Puzzle a Few Pieces at a Time

    Solving the Autism Puzzle a Few Pieces at a Time nork Christian P. Schaaf, Huda Y. Zoghbi

    Argitaratua 2011
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  3. 3
    Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene

    Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene nork Michael D. Fountain, Christian P. Schaaf

    Argitaratua 2016
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  4. 4
    The human clinical phenotypes of altered CHRNA7 copy number

    The human clinical phenotypes of altered CHRNA7 copy number nork Madelyn A. Gillentine, Christian P. Schaaf

    Argitaratua 2015
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  5. 5
    Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies

    Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes: evidence, disappointments, and future research strategies nork Ferdinand Althammer, Françoise Muscatelli, Valery Grinevich, Christian P. Schaaf

    Argitaratua 2022
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  6. 6
    Identification of incestuous parental relationships by SNP-based DNA microarrays

    Identification of incestuous parental relationships by SNP-based DNA microarrays nork Christian P. Schaaf, DA Scott, Joanna Wiszniewska, A L Beaudet

    Argitaratua 2011
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  7. 7
    Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes

    Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes nork Jiani Yin, Wu Chen, Hongxing Yang, Mingshan Xue, Christian P. Schaaf

    Argitaratua 2017
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  8. 8
    An estimation of the prevalence of genomic disorders using chromosomal microarray data

    An estimation of the prevalence of genomic disorders using chromosomal microarray data nork Madelyn A. Gillentine, Philip J. Lupo, Paweł Stankiewicz, Christian P. Schaaf

    Argitaratua 2018
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  9. 9
    The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome

    The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome nork Ilia Valentin, Pilar Caro, Christine Fischer, Heiko Brennenstuhl, Christian P. Schaaf

    Argitaratua 2025
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  10. 10
    <i>Magel2</i> knockout mice manifest altered social phenotypes and a deficit in preference for social novelty

    <i>Magel2</i> knockout mice manifest altered social phenotypes and a deficit in preference for social novelty nork Michael D. Fountain, Tao Huang, Chi‐An Chen, Jiani Yin, Christian P. Schaaf

    Argitaratua 2017
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  11. 11
    Emerging role of astrocytes in oxytocin-mediated control of neural circuits and brain functions

    Emerging role of astrocytes in oxytocin-mediated control of neural circuits and brain functions nork Angel Baudon, Etienne Clauss Creusot, Ferdinand Althammer, Christian P. Schaaf, Alexandre Charlet

    Argitaratua 2022
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  12. 12
    Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum

    Hao‐Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum nork Moritz Claudius Wimmer, Heiko Brennenstuhl, Steffen Hirsch, Laura Dötsch, Samy Unser, Pilar Caro, Christian P. Schaaf

    Argitaratua 2024
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  13. 13
    Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells

    Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells nork Madelyn A. Gillentine, Jiani Yin, Aleksandar Bajić, Ping Zhang, Steven E. Cummock, Ji‐Eun Kim, Christian P. Schaaf

    Argitaratua 2017
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  14. 14
    Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review

    Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review nork Ayman W. El‐Hattab, Christian P. Schaaf, Ping Fang, Elizabeth Roeder, Virginia Kimonis, Joseph A. Church, Ankita Patel, Sau Wai Cheung

    Argitaratua 2015
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  15. 15
    Comparative analysis of gene and disease selection in genomic newborn screening studies

    Comparative analysis of gene and disease selection in genomic newborn screening studies nork Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva C. Winkler, Nicola Dikow, Sven F. Garbade, Christian P. Schaaf, Heiko Brennenstuhl

    Argitaratua 2024
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  16. 16
    Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder

    Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder nork Chun‐An Chen, Rituraj Pal, Jiani Yin, Huifang Tao, Abdallah Amawi, Aniko Sabo, Matthew N. Bainbridge, Richard A. Gibbs, Huda Y. Zoghbi, Christian P. Schaaf

    Argitaratua 2020
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  17. 17
    Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

    Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia nork Christian P. Schaaf, Robin P. Goin‐Kochel, Kerri P. Nowell, Jill V. Hunter, Kirk Aleck, Sarah K. Cox, Ankita Patel, Carlos A. Bacino, Marwan Shinawi

    Argitaratua 2010
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  18. 18
    Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature

    Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature nork Christian P. Schaaf, Janet Koster, Panagiotis Katsonis, Lisa E. Kratz, Oleg A. Shchelochkov, Fernando Scaglia, Richard I. Kelley, Olivier Lichtarge, Hans R. Waterham, Marwan Shinawi

    Argitaratua 2011
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  19. 19
    Curcumin suppresses HIF1A synthesis and VEGFA release in pituitary adenomas

    Curcumin suppresses HIF1A synthesis and VEGFA release in pituitary adenomas nork Bing Shan, Christian P. Schaaf, Andrea Schmidt, K. Lucia, M Buchfelder, Marco Losa, Dominique Kuhlen, J Kreutzer, Marcelo J. Perone, Eduardo Arzt, Günter K. Stalla, U Renner

    Argitaratua 2012
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  20. 20
    Shared Environment – Different Genes: Speech-Language Development in a Pair of Dizygotic Twins with and Without <i>MECP2</i> Mutation

    Shared Environment – Different Genes: Speech-Language Development in a Pair of Dizygotic Twins with and Without <i>MECP2</i> Mutation nork Sigrun Lang, Peter B. Marschik, Zuzanna Laudańska, Bernd Wilken, Christian P. Schaaf, Andreas Hahn, Tomas Kulvičius, Jeff Sigafoos, Sven Bölte, Luise Poustka, Jeffrey L. Neul, Dajie Zhang

    Argitaratua 2025
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