Výsledky vyhledávání - Jacqueline A.C. Goos

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  1. 1
    Genetic Causes of Craniosynostosis: An Update

    Genetic Causes of Craniosynostosis: An Update Autor Jacqueline A.C. Goos, Irene M. J. Mathijssen

    Vydáno 2018
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  2. 2
    Distribution of Glycine/GABA Neurons in the Ventromedial Medulla with Descending Spinal Projections and Evidence for an Ascending Glycine/GABA Projection

    Distribution of Glycine/GABA Neurons in the Ventromedial Medulla with Descending Spinal Projections and Evidence for an Ascending Glycine/GABA Projection Autor Mehdi Hossaini, Jacqueline A.C. Goos, Somesh K. Kohli, Jan C. Holstege

    Vydáno 2012
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  3. 3
    Diagnostic yield of endoscopic and EUS-guided biopsy techniques in subepithelial lesions of the upper GI tract: a systematic review

    Diagnostic yield of endoscopic and EUS-guided biopsy techniques in subepithelial lesions of the upper GI tract: a systematic review Autor Cynthia Verloop, Jacqueline A.C. Goos, Marco J. Bruno, Rutger Quispel, Lydi M.J.W. van Driel, Lieke Hol

    Vydáno 2024
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  4. 4
    Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1

    Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1 Autor Marijke E.P. van den Elzen, Stephen R.F. Twigg, Jacqueline A.C. Goos, A. Jeannette M. Hoogeboom, A.M.W. van den Ouweland, Andrew O.M. Wilkie, Irene M.J. Mathijssen

    Vydáno 2013
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  5. 5
    Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

    Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability Autor Stephen R.F. Twigg, Jennifer Forecki, Jacqueline A.C. Goos, Ivy C A Richardson, A. Jeannette M. Hoogeboom, Ans M.W. van den Ouweland, Sigrid M.A. Swagemakers, Maarten H. Lequin, Daniel Van Antwerp, Simon J. McGowan, Isabelle Westbury, Kerry A. Miller, Steven A. Wall, Peter J. van der Spek, Irene M.J. Mathijssen, Erwin Pauws, Christa Merzdorf, Andrew O.M. Wilkie

    Vydáno 2015
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  6. 6
    Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

    Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis Autor Vikram Sharma, Aimée L Fenwick, Mia Brockop, Simon J. McGowan, Jacqueline A.C. Goos, A. Jeannette M. Hoogeboom, Angela F. Brady, Owase Jeelani, Sally Ann Lynch, John B. Mulliken, Dylan J. Murray, Julie Phipps, Elizabeth Sweeney, Susan Tomkins, Louise C. Wilson, Sophia Bennett, Richard J. Cornall, John Broxholme, Alexander Kanapin, David Johnson, Steven A. Wall, Peter J. van der Spek, Irene M. J. Mathijssen, Robert E. Maxson, Stephen R.F. Twigg, Andrew O.M. Wilkie

    Vydáno 2013
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  7. 7
    Diagnostic value of exome and whole genome sequencing in craniosynostosis

    Diagnostic value of exome and whole genome sequencing in craniosynostosis Autor Kerry A. Miller, Stephen R.F. Twigg, Simon J. McGowan, Julie Phipps, Aimée L Fenwick, David Johnson, Steven A. Wall, Peter Noons, Katie E M Rees, Elizabeth A Tidey, Judith Craft, John Taylor, Jenny C. Taylor, Jacqueline A.C. Goos, Sigrid M.A. Swagemakers, Irene M. J. Mathijssen, Peter J. van der Spek, Helen Lord, Tracy Lester, Noina Abid, Deirdre Cilliers, Jane A. Hurst, Jenny E.V. Morton, Elizabeth Sweeney, Astrid Weber, Louise C. Wilson, Andrew O.M. Wilkie

    Vydáno 2016
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  8. 8
    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

    De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder Autor Eduardo Calpena, Alexia Hervieu, Teresa Kaserer, Sigrid M.A. Swagemakers, Jacqueline A.C. Goos, Olajumoke Adeniji-Popoola, María Jesús Ortiz-Ruiz, Tina Barbaro‐Dieber, Lucy Bownass, Eva H. Brilstra, Elise Brimble, Nicola Foulds, Theresa A. Grebe, Aster V. E. Harder, Melissa Lees, Kristin G. Monaghan, Ruth Newbury‐Ecob, Kai‐Ren Ong, Deborah Osio, Francis Jeshira Reynoso Santos, Maura Ruzhnikov, Aida Telegrafi, Ellen van Binsbergen, Marieke F. van Dooren, Peter J. van der Spek, Julian Blagg, Stephen R.F. Twigg, Irene M.J. Mathijssen, Paul A. Clarke, Andrew O.M. Wilkie

    Vydáno 2019
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  9. 9
    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

    De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder Autor Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, Jacqueline A.C. Goos, Melissa Lees, Anna de Burca, Alex Henderson, Alison Kraus, Barbara Mikat, Bert B.A. de Vries, Bertrand Isidor, Bronwyn Kerr, Carlo Marcelis, Caroline Schluth–Bolard, Charu Deshpande, Claudia Ruivenkamp, Dagmar Wieczorek, Diana Baralle, Edward Blair, Hartmut Engels, Hermann‐Josef Lüdecke, Jacqueline Eason, Gijs W.E. Santen, Jill Clayton‐Smith, Kate Chandler, Katrina Tatton‐Brown, Katelyn Payne, Katherine L. Helbig, Kelly Radtke, Kimberly Nugent, Kirsten Cremer, Tim M. Strom, Lynne M. Bird, Margje Sinnema, Maria Bitner‐Glindzicz, Marieke F. van Dooren, Mariëlle Alders, Marion Koopmans, Lauren Brick, Mariya Kozenko, Megan L. Harline, Merel Klaassens, Michelle Steinraths, Nicola Cooper, Patrick Edery, Patrick Yap, Paulien A. Terhal, Peter J. van der Spek, Phillis Lakeman, Rachel L. Taylor, Rebecca O. Littlejohn, Rolph Pfundt, Saadet Mercimek‐Andrews, Alexander P.A. Stegmann, Sarina G. Kant, Scott D. McLean, Shelagh Joss, Sigrid M.A. Swagemakers, Sofia Douzgou, Steven A. Wall, Sébastien Küry, Eduardo Calpena, Nils Koelling, Simon J. McGowan, Stephen R.F. Twigg, Irene M.J. Mathijssen, Christoffer Nellåker, Han G. Brunner, Andrew O.M. Wilkie

    Vydáno 2018
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