Hasil Pencarian - Astrid S. Plomp

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  1. 1
    Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies

    Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies oleh Xuan-Thanh-An Nguyen, Lude Moekotte, Astrid S. Plomp, Arthur A. Bergen, Maria M. van Genderen, Camiel J. F. Boon

    Diterbitkan 2023-04-01
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  2. 2
    Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A

    Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A oleh Cansu de Muijnck, Mary J. van Schooneveld, Astrid S. Plomp, Richard J. Rodenburg, Maria M. van Genderen, Camiel J.F. Boon

    Diterbitkan 2024-06-01
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  3. 3
    Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome

    Pathogenic effect of a TGFBR1 mutation in a family with Loeys–Dietz syndrome oleh Luc Cozijnsen, Astrid S. Plomp, Jan G. Post, Gerard Pals, Natalija Bogunovic, Kak K. Yeung, Hans W. M. Niessen, Marie‐José T. H. Goumans, Daniela Q. C. M. Barge‐Schaapveld, Dimitra Micha

    Diterbitkan 2019-10-01
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  4. 4
    Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report

    Chondrodysplasia, enchondromas and a chest deformity causing severe pulmonary morbidity in a boy with a PTHLH duplication: A case report oleh Carline E. Tacke, Suzanne W.J. Terheggen-Lagro, Annemieke M. Boot, Astrid S. Plomp, Abeltje M. Polstra, Rick R. van Rijn, Peter A.A. Struijs, Henk van den Berg, Christiaan F. Mooij

    Diterbitkan 2021-06-01
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  5. 5
    Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

    Molecular Inversion Probe-Based Sequencing of <i>USH2A</i> Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases oleh Janine Reurink, Adrian Dockery, Dominika Oziębło, G. Jane Farrar, Monika Ołdak, Jacoline B. ten Brink, Arthur A. Bergen, Tuula Rinne, Helger G. Yntema, Ronald J. E. Pennings, L. Ingeborgh van den Born, Marco Aben, Jaap Oostrik, Hanka Venselaar, Astrid S. Plomp, M. Imran Khan, Erwin van Wijk, Frans P. M. Cremers, Susanne Roosing, Hannie Kremer

    Diterbitkan 2021-06-01
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  6. 6
    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

    Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders oleh Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

    Diterbitkan 2022-01-01
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