Kết quả tìm kiếm - Astrid Oudakker

  • Đang hiển thị 1 - 12 kết quả của 12
Tinh chỉnh kết quả
  1. 1
    Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia

    Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia Bằng Anika H.D.M. Dam, Isabelle Koscinski, Jan A.M. Kremer, Céline Moutou, Anne-Sophie Jaeger, Astrid Oudakker, Herman Tournaye, Nicolas Charlet‐Berguerand, Clotilde Lagier‐Tourenne, Hans van Bokhoven, Stéphane Viville

    Được phát hành 2007
    lấy văn bản lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  2. 2
    Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling

    Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic Scaling Bằng Marco Benevento, Giovanni Iacono, Martijn Selten, Wei Ba, Astrid Oudakker, Monica Frega, Jason Keller, Roberta Mancini, Elly Lewerissa, Tjitske Kleefstra, Henk G. Stunnenberg, Huiqing Zhou, Hans van Bokhoven, Nael Nadif Kasri

    Được phát hành 2016
    lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  3. 3
    Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype

    Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype Bằng Monica Frega, Martijn Selten, Britt Mossink, Jason M. Keller, Katrin Linda, Rebecca Moerschen, Jieqiong Qu, Pierre Koerner, Sophie Martina Johanna Jansen, Astrid Oudakker, Tjitske Kleefstra, Hans van Bokhoven, Huiqing Zhou, Dirk Schubert, Nael Nadif Kasri

    Được phát hành 2020
    lấy văn bản lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  4. 4
    Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

    Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome Bằng Tjitske Kleefstra, Han G. Brunner, Jeanne Amiel, Astrid Oudakker, Willy M. Nillesen, Alex Magee, David Geneviève, Valérie Cormier‐Daire, Hilde Van Esch, Jean‐Pierre Fryns, Ben C.J. Hamel, Erik A. Sistermans, Bert B.A. de Vries, Hans van Bokhoven

    Được phát hành 2006
    lấy văn bản lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  5. 5
    Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders

    Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders Bằng Katrin Linda, Elly Lewerissa, Anouk H. A. Verboven, Michele Gabriele, Monica Frega, Teun M. Klein Gunnewiek, Lynn Devilée, Edda Ulferts, Marina P. Hommersom, Astrid Oudakker, Chantal Schoenmaker, Hans van Bokhoven, Dirk Schubert, Giuseppe Testa, David A. Koolen, Bert B.A. de Vries, Nael Nadif Kasri

    Được phát hành 2021
    lấy văn bản lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  6. 6
    Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

    Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling Bằng Monica Frega, Katrin Linda, Jason M. Keller, Güvem Gümüş‐Akay, Britt Mossink, Jon-Ruben van Rhijn, Moritz Negwer, Teun M. Klein Gunnewiek, Katharina Foreman, Nine Kompier, Chantal Schoenmaker, Willem M.R. van den Akker, Ilse van der Werf, Astrid Oudakker, Huiqing Zhou, Tjitske Kleefstra, Dirk Schubert, Hans van Bokhoven, Nael Nadif Kasri

    Được phát hành 2019
    lấy văn bản lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  7. 7
    ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation

    ZNF674: A New Krüppel-Associated Box–Containing Zinc-Finger Gene Involved in Nonsyndromic X-Linked Mental Retardation Bằng Dorien Lugtenberg, Helger G. Yntema, Martijn J.G. Banning, Astrid Oudakker, Helen V. Firth, Lionel Willatt, Martine Raynaud, Tjitske Kleefstra, Jean‐Pierre Fryns, Hans‐Hilger Ropers, Jamel Chelly, Claude Moraine, Jozef Gécz, Jeroen van Reeuwijk, Sander B. Nabuurs, Bert B.A. de Vries, Ben C.J. Hamel, Arjan P.M. de Brouwer, Hans van Bokhoven

    Được phát hành 2006
    lấy văn bản lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  8. 8
    Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

    Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy Bằng Dorien Lugtenberg, Tjitske Kleefstra, Astrid Oudakker, Willy M. Nillesen, Helger G. Yntema, Andreas Tzschach, Martine Raynaud, D. Rating, Hubert Journel, Jamel Chelly, Cyril Goizet, Didier Lacombe, Jean‐Michel Pédespan, Bernard Échenne, Gholamali Tariverdian, Declan O’Rourke, Mary D. King, Andrew Green, Margriet van Kogelenberg, Hilde Van Esch, Jozef Gécz, Ben C.J. Hamel, Hans van Bokhoven, Arjan P.M. de Brouwer

    Được phát hành 2008
    lấy văn bản lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  9. 9
    Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

    Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrom... Bằng Monique C.M. Balemans, Muhammad Ansar, Astrid Oudakker, A. van Caam, Brenda Bakker, E.L. Vitters, P.M. van der Kraan, Diederik R.H. de Bruijn, Sanne Janssen, Arthur J. Kuipers, Manon M. H. Huibers, Eliza M. Maliepaard, X. Frank Walboomers, Marco Benevento, Nael Nadif Kasri, Tjitske Kleefstra, Huiqing Zhou, Catharina E.E.M. Van der Zee, Hans van Bokhoven

    Được phát hành 2013
    lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  10. 10
    Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

    Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome Bằng Zafar Iqbal, Pilar Cejudo–Martín, Arjan de Brouwer, Bert van der Zwaag, Pilar Ruiz‐Lozano, Maria Cecilia Scimia, James D. Lindsey, Robert N. Weinreb, Beate Albrecht, André Mégarbané, Yasemin Alanay, Ziva Ben‐Neriah, Mariangela Amenduni, Rosangela Artuso, Joris A. Veltman, Ellen van Beusekom, Astrid Oudakker, José Luís Millán, Raoul C. M. Hennekam, Ben C.J. Hamel, Sara A. Courtneidge, Hans van Bokhoven

    Được phát hành 2010
    lấy văn bản lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  11. 11
    Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks

    Cadherin-13 is a critical regulator of GABAergic modulation in human stem-cell-derived neuronal networks Bằng Britt Mossink, Jon-Ruben van Rhijn, Shan Wang, Katrin Linda, Maria Rosaria Vitale, Johanna E. M. Zöller, Eline van Hugte, Jitske Bak, Anouk H. A. Verboven, Martijn Selten, Moritz Negwer, Brooke Latour, Ilse van der Werf, Jason M. Keller, Teun M. Klein Gunnewiek, Chantal Schoenmaker, Astrid Oudakker, Alessia Anania, Sophie Martina Johanna Jansen, Klaus‐Peter Lesch, Monica Frega, Hans van Bokhoven, Dirk Schubert, Nael Nadif Kasri

    Được phát hành 2021
    lấy văn bản lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:
  12. 12
    Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

    Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium Bằng Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, Dorien Lugtenberg, Astrid Oudakker, Bert B.A. de Vries, Hans van Bokhoven, Hilde Van Esch, Suzanna G.M. Frints, Guy Froyen, Jean‐Pierre Fryns, Martine Raynaud, Marie‐Pierre Moizard, Nathalie Ronce, Anissa Bensalem, Claude Moraine, Karine Poirier, L. Castelnau, Yoann Saillour, Thierry Bienvenu, Chérif Beldjord, Vincent des Portes, Jamel Chelly, Gillian Turner, Tod Fullston, Jozef Gécz, Andreas W. Kuß, Andreas Tzschach, Lars Riff Jensen, Steffen Lenzner, Vera M. Kalscheuer, Hans‐Hilger Ropers, Ben C.J. Hamel

    Được phát hành 2007
    lấy văn bản lấy văn bản
    Artigo
    Lưu vào danh sách
    Đã lưu trong:

Công cụ tìm kiếm: