Zoekresultaten - Schaaf, Christian P.

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

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Facebook Support Groups for Pediatric Rare Diseases: Cross-Sectional Study to Investigate Opportunities, Limitations, and Privacy Concerns door Titgemeyer, Sarah Catrin, Schaaf, Christian P

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The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci door Gillentine, Madelyn A., Schaaf, Christian P., Patel, Ankita

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Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome door Bertacchi, Michele, Tocco, Chiara, Schaaf, Christian P., Studer, Michèle

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

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Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty door Fountain, Michael D., Tao, Huifang, Chen, Chun-An, Yin, Jiani, Schaaf, Christian P.

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Assessment of cognitive outcome measures in teenagers with 15q13.3 microdeletion syndrome door Crutcher, Emeline, Ali, May, Harrison, John, Sovago, Judit, Gomez-Mancilla, Baltazar, Schaaf, Christian P.

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Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells door Gillentine, Madelyn A., Yin, Jiani, Bajic, Aleksandar, Zhang, Ping, Cummock, Steven, Kim, Jean J., Schaaf, Christian P.

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mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome door Crutcher, Emeline, Pal, Rituraj, Naini, Fatemeh, Zhang, Ping, Laugsch, Magdalena, Kim, Jean, Bajic, Aleksandar, Schaaf, Christian P.

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CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents door Gillentine, Madelyn A., White, Janson J., Grochowski, Christopher M., Lupski, James R., Schaaf, Christian P., Calarge, Chadi A.

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CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents door Gillentine, Madelyn A., White, Janson J., Grochowski, Christopher M., Lupski, James R., Schaaf, Christian P., Calarge, Chadi A.

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Genetic Variation in LRP1 Associates with Stanford Type B Aortic Dissection Risk and Clinical Outcome door Erhart, Philipp, Körfer, Daniel, Grond-Ginsbach, Caspar, Qiao, Jia-Lu, Bischoff, Moritz S., Hempel, Maja, Schaaf, Christian P., Grau, Armin, Böckler, Dittmar

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Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay door Witsch, Jens, Szafranski, Przemyslaw, Chen, Chun-An, Immken, LaDonna, Simpson Patel, Gayle, Hixson, Patricia, Cheung, Sau Wai, Stankiewicz, Pawel, Schaaf, Christian P

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

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Brain Network Analysis of EEG Recordings Can Be Used to Assess Cognitive Function in Teenagers With 15q13.3 Microdeletion Syndrome door Stern, Tehila, Crutcher, Emeline H., McCarthy, John M., Ali, May A., Issachar, Gil, Geva, Amir B., Peremen, Ziv, Schaaf, Christian P.

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Mecp2 Deletion from Cholinergic Neurons Selectively Impairs Recognition Memory and Disrupts Cholinergic Modulation of the Perirhinal Cortex door Ballinger, Elizabeth C., Schaaf, Christian P., Patel, Akash J., de Maio, Antonia, Tao, Huifang, Talmage, David A., Zoghbi, Huda Y., Role, Lorna W.

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Identification of Complex Chromosome 18 Rearrangements by FISH and Array CGH in Two Patients With Apparent Isochromosome 18q door Breman, Amy M., Probst, Frank J., Blazo, Maria A., Schaaf, Christian P., Roney, Erin K., Craigen, William J., Bacino, Carlos A., Cheung, Sau Wai

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Desmosterolosis—Phenotypic and Molecular Characterization of a Third Case and Review of the Literature door Schaaf, Christian P., Koster, Janet, Katsonis, Panagiotis, Kratz, Lisa, Shchelochkov, Oleg A., Scaglia, Fernando, Kelley, Richard I., Lichtarge, Olivier, Waterham, Hans R., Shinawi, Marwan

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

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

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