Hasil Pencarian - Jasmin Beygo

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  1. 1
    The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders

    The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders oleh Jasmin Beygo, Claudia Mertel, Sabine Kaya, Gabriele Gillessen-Kaesbach, Thomas Eggermann, Bernhard Horsthemke, Karin Buiting

    Diterbitkan 2018-08-01
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  2. 2
    Correction: Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects.

    Correction: Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects. oleh Jasmin Beygo, Ole Ammerpohl, Daniela Gritzan, Melanie Heitmann, Katrin Rademacher, Julia Richter, Almuth Caliebe, Reiner Siebert, Bernhard Horsthemke, Karin Buiting

    Diterbitkan 2013-01-01
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  3. 3
    Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects.

    Deep bisulfite sequencing of aberrantly methylated loci in a patient with multiple methylation defects. oleh Jasmin Beygo, Ole Ammerpohl, Daniela Gritzan, Melanie Heitmann, Katrin Rademacher, Julia Richter, Almuth Caliebe, Reiner Siebert, Bernhard Horsthemke, Karin Buiting

    Diterbitkan 2013-01-01
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  4. 4
    No evidence for intervention-associated DNA methylation changes in monocytes of patients with posttraumatic stress disorder

    No evidence for intervention-associated DNA methylation changes in monocytes of patients with posttraumatic stress disorder oleh Elisabeth Hummel, Magdeldin Elgizouli, Maurizio Sicorello, Elsa Leitão, Jasmin Beygo, Christopher Schröder, Michael Zeschnigk, Svenja Müller, Stephan Herpertz, Dirk Moser, Henrik Kessler, Bernhard Horsthemke, Robert Kumsta

    Diterbitkan 2022-10-01
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  5. 5
    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains oleh David Monk, Joannella Morales, Johan T. den Dunnen, Silvia Russo, Franck Court, Dirk Prawitt, Thomas Eggermann, Jasmin Beygo, Karin Buiting, Zeynep Tümer, the Nomenclature group of the European Network for Human Congenital Imprinting Disorders

    Diterbitkan 2018-02-01
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  6. 6
    Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature

    Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature oleh Hela Sassi, Yasmina Elaribi, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Molka Sebai, Nadia Kasdallah, Habib Bouthour, Samia Hannachi, Jasmin Beygo, Ali Saad, Karin Buiting, Dorra H’mida Ben‐Brahim, Lamia BenJemaa

    Diterbitkan 2021-10-01
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  7. 7
    The adult phenotype of Schaaf-Yang syndrome

    The adult phenotype of Schaaf-Yang syndrome oleh Felix Marbach, Magdeldin Elgizouli, Megan Rech, Jasmin Beygo, Florian Erger, Clara Velmans, Constance T. R. M. Stumpel, Alexander P. A. Stegmann, Stefanie Beck-Wödl, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke, Christian P. Schaaf, Alma Kuechler

    Diterbitkan 2020-10-01
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  8. 8
    Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis oleh Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer

    Diterbitkan 2024-08-01
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  9. 9
    PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

    PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals oleh Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C Bramswig, Tzung-Chien Hsieh, Alexandra Afenjar, Stefanie Beck-Wödl, Ute Grasshoff, Tobias B Haack, Emilia K Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K Haanpää, Maria K Haanpää, Hannele Koillinen, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch-Hogrebe, Kevin Rostasy, Vanesa López-González, Vanesa López-González, María José Sanchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Dagmar Wieczorek, Frank J Kaiser, Frank J Kaiser, Alma Kuechler, Alma Kuechler

    Diterbitkan 2023-01-01
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  10. 10
    Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

    Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome oleh Margot A. Cousin, Emma L. Veale, Nikita R. Dsouza, Swarnendu Tripathi, Robyn G. Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Martin Bialer, Stefania Bigoni, Cyrus Boelman, Jenny Carmichael, Thomas Courtin, Benjamin Cogne, Ivana Dabaj, Diane Doummar, Laura Fazilleau, Alessandra Ferlini, Ralitza H. Gavrilova, John M. Graham, Tobias B. Haack, Jane Juusola, Sarina G. Kant, Saima Kayani, Boris Keren, Petra Ketteler, Chiara Klöckner, Tamara T. Koopmann, Teresa M. Kruisselbrink, Alma Kuechler, Laëtitia Lambert, Xénia Latypova, Robert Roger Lebel, Magalie S. Leduc, Emanuela Leonardi, Andrea M. Lewis, Wendy Liew, Keren Machol, Samir Mardini, Kirsty McWalter, Cyril Mignot, Julie McLaughlin, Alessandra Murgia, Vinodh Narayanan, Caroline Nava, Sonja Neuser, Mathilde Nizon, Davide Ognibene, Joohyun Park, Konrad Platzer, Céline Poirsier, Maximilian Radtke, Keri Ramsey, Cassandra K. Runke, Maria J. Guillen Sacoto, Fernando Scaglia, Marwan Shinawi, Stephanie Spranger, Ee Shien Tan, John Taylor, Anne-Sophie Trentesaux, Filippo Vairo, Rebecca Willaert, Neda Zadeh, Raul Urrutia, Dusica Babovic-Vuksanovic, Michael T. Zimmermann, Alistair Mathie, Eric W. Klee

    Diterbitkan 2022-06-01
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