Torthaí cuardaigh - Christian P. Schaaf

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  1. 1
    Nicotinic acetylcholine receptors in human genetic disease

    Nicotinic acetylcholine receptors in human genetic disease de réir Christian P. Schaaf

    Foilsithe / Cruthaithe 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 de réir Christian P. Schaaf, Huda Y. Zoghbi

    Foilsithe / Cruthaithe 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 de réir Michael D. Fountain, Christian P. Schaaf

    Foilsithe / Cruthaithe 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 de réir Madelyn A. Gillentine, Christian P. Schaaf

    Foilsithe / Cruthaithe 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 de réir Ferdinand Althammer, Françoise Muscatelli, Valery Grinevich, Christian P. Schaaf

    Foilsithe / Cruthaithe 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 de réir Christian P. Schaaf, DA Scott, Joanna Wiszniewska, A L Beaudet

    Foilsithe / Cruthaithe 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 de réir Jiani Yin, Wu Chen, Hongxing Yang, Mingshan Xue, Christian P. Schaaf

    Foilsithe / Cruthaithe 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 de réir Madelyn A. Gillentine, Philip J. Lupo, Paweł Stankiewicz, Christian P. Schaaf

    Foilsithe / Cruthaithe 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 de réir Ilia Valentin, Pilar Caro, Christine Fischer, Heiko Brennenstuhl, Christian P. Schaaf

    Foilsithe / Cruthaithe 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 de réir Michael D. Fountain, Tao Huang, Chi‐An Chen, Jiani Yin, Christian P. Schaaf

    Foilsithe / Cruthaithe 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 de réir Angel Baudon, Etienne Clauss Creusot, Ferdinand Althammer, Christian P. Schaaf, Alexandre Charlet

    Foilsithe / Cruthaithe 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 de réir Moritz Claudius Wimmer, Heiko Brennenstuhl, Steffen Hirsch, Laura Dötsch, Samy Unser, Pilar Caro, Christian P. Schaaf

    Foilsithe / Cruthaithe 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 de réir Madelyn A. Gillentine, Jiani Yin, Aleksandar Bajić, Ping Zhang, Steven E. Cummock, Ji‐Eun Kim, Christian P. Schaaf

    Foilsithe / Cruthaithe 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 de réir Ayman W. El‐Hattab, Christian P. Schaaf, Ping Fang, Elizabeth Roeder, Virginia Kimonis, Joseph A. Church, Ankita Patel, Sau Wai Cheung

    Foilsithe / Cruthaithe 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 de réir Isabel R. Betzler, Maja Hempel, Ulrike Mütze, Stefan Kölker, Eva C. Winkler, Nicola Dikow, Sven F. Garbade, Christian P. Schaaf, Heiko Brennenstuhl

    Foilsithe / Cruthaithe 2024
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  16. 16
    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 de réir 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

    Foilsithe / Cruthaithe 2010
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  17. 17
    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 de réir 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

    Foilsithe / Cruthaithe 2011
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  18. 18
    Curcumin suppresses HIF1A synthesis and VEGFA release in pituitary adenomas

    Curcumin suppresses HIF1A synthesis and VEGFA release in pituitary adenomas de réir 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

    Foilsithe / Cruthaithe 2012
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  19. 19
    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 de réir 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

    Foilsithe / Cruthaithe 2025
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  20. 20
    Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

    Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders de réir Christian P. Schaaf, Aniko Sabo, Yasunari Sakai, Jeffrey R. Crosby, Donna M. Muzny, Alicia Hawes, Lora Lewis, Haji Akbar, R. Varghese, Eric Boerwinkle, Richard A. Gibbs, Huda Y. Zoghbi

    Foilsithe / Cruthaithe 2011
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