Hasil Pencarian - Han G. Brunner

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  1. 1
    Ciliary Dyneins and Dynein Related Ciliopathies

    Ciliary Dyneins and Dynein Related Ciliopathies oleh Dinu Antony, Han G. Brunner, Miriam Schmidts

    Diterbitkan 2021-07-01
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  2. 2
    An E280K Missense Variant in <i>KCND3</i>/Kv4.3—Case Report and Functional Characterization

    An E280K Missense Variant in <i>KCND3</i>/Kv4.3—Case Report and Functional Characterization oleh Richard Ågren, Niels Geerdink, Han G. Brunner, Martin Paucar, Erik-Jan Kamsteeg, Kristoffer Sahlholm

    Diterbitkan 2023-06-01
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  3. 3
    Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome.

    Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. oleh Tom Stiff, Meryem Alagoz, Diana Alcantara, Emily Outwin, Han G Brunner, Ernie M H F Bongers, Mark O'Driscoll, Penny A Jeggo

    Diterbitkan 2013-01-01
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  4. 4
    Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

    Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases oleh Dinu Antony, Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, Lennart Slagter, Zeineb Bakey, Zeineb Bakey, Helen Bornaun, Ibrahim Cansaran Tanidir, Tran Van Dinh, Han G. Brunner, Han G. Brunner, Peter Walentek, Peter Walentek, Sebastian J. Arnold, Sebastian J. Arnold, Rolf Backofen, Rolf Backofen, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts

    Diterbitkan 2022-04-01
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  5. 5
    Accurate distinction of pathogenic from benign CNVs in mental retardation.

    Accurate distinction of pathogenic from benign CNVs in mental retardation. oleh Jayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, Rolph Pfundt, Han G Brunner, Christian Gilissen, Bert B A de Vries, Chris P Ponting, Joris A Veltman

    Diterbitkan 2010-04-01
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  6. 6
    Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing

    Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing oleh Joep de Ligt, Philip M. Boone, Rolph Pfundt, Lisenka E.L.M. Vissers, Nicole de Leeuw, Christine Shaw, Han G. Brunner, James R. Lupski, Joris A. Veltman, Jayne Y. Hehir-Kwa

    Diterbitkan 2014-12-01
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  7. 7
    Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants

    Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants oleh Tessa M. A. Peters, Irma Lammerts van Bueren, Ben P.B.H. Geurtz, Karlien L. M. Coene, Nicole deLeeuw, Han G. Brunner, Jón J. Jónsson, Michèl A. A. P. Willemsen, Ron A. Wevers, Marcel M. Verbeek

    Diterbitkan 2021-03-01
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  8. 8
    Comprehensive de novo mutation discovery with HiFi long-read sequencing

    Comprehensive de novo mutation discovery with HiFi long-read sequencing oleh Erdi Kucuk, Bart P. G. H. van der Sanden, Luke O’Gorman, Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E. L. M. Vissers, Alexander Hoischen, Christian Gilissen

    Diterbitkan 2023-05-01
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  9. 9
    Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesityResearch in context

    Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesityResearch in context oleh Johanna C. Andersson-Assarsson, Rosanne C. van Deuren, Felipe M. Kristensson, Marloes Steehouwer, Kajsa Sjöholm, Per-Arne Svensson, Marc Pieterse, Christian Gilissen, Magdalena Taube, Peter Jacobson, Rosie Perkins, Han G. Brunner, Mihai G. Netea, Markku Peltonen, Björn Carlsson, Alexander Hoischen, Lena M.S. Carlsson

    Diterbitkan 2023-06-01
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  10. 10
    Human intellectual disability genes form conserved functional modules in Drosophila.

    Human intellectual disability genes form conserved functional modules in Drosophila. oleh Merel A W Oortveld, Shivakumar Keerthikumar, Martin Oti, Bonnie Nijhof, Ana Clara Fernandes, Korinna Kochinke, Anna Castells-Nobau, Eva van Engelen, Thijs Ellenkamp, Lilian Eshuis, Anne Galy, Hans van Bokhoven, Bianca Habermann, Han G Brunner, Christiane Zweier, Patrik Verstreken, Martijn A Huynen, Annette Schenck

    Diterbitkan 2013-10-01
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  11. 11
    A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies

    A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies oleh Romy van de Putte, Gabriel C. Dworschak, Gabriel C. Dworschak, Erwin Brosens, Erwin Brosens, Heiko M. Reutter, Heiko M. Reutter, Carlo L. M. Marcelis, Rocio Acuna-Hidalgo, Nehir E. Kurtas, Marloes Steehouwer, Sally L. Dunwoodie, Eberhard Schmiedeke, Stefanie Märzheuser, Nicole Schwarzer, Alice S. Brooks, Annelies de Klein, Cornelius E. J. Sloots, Dick Tibboel, Giulia Brisighelli, Giulia Brisighelli, Anna Morandi, Maria F. Bedeschi, Michael D. Bates, Michael D. Bates, Marc A. Levitt, Marc A. Levitt, Marc A. Levitt, Alberto Peña, Alberto Peña, Alberto Peña, Ivo de Blaauw, Nel Roeleveld, Han G. Brunner, Han G. Brunner, Iris A. L. M. van Rooij, Alexander Hoischen, Alexander Hoischen

    Diterbitkan 2020-06-01
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  12. 12
    Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

    Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications oleh Gaby Schobers, Jolanda H. Schieving, Helger G. Yntema, Maartje Pennings, Rolph Pfundt, Ronny Derks, Tom Hofste, Ilse de Wijs, Nienke Wieskamp, Simone van den Heuvel, Jordi Corominas Galbany, Christian Gilissen, Marcel Nelen, Han G. Brunner, Tjitske Kleefstra, Erik-Jan Kamsteeg, Michèl A. A. P. Willemsen, Lisenka E. L. M. Vissers

    Diterbitkan 2022-06-01
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  13. 13
    Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

    Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers oleh Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk

    Diterbitkan 2020-02-01
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  14. 14
    Identification of rare de novo epigenetic variations in congenital disorders

    Identification of rare de novo epigenetic variations in congenital disorders oleh Mafalda Barbosa, Ricky S. Joshi, Paras Garg, Alejandro Martin-Trujillo, Nihir Patel, Bharati Jadhav, Corey T. Watson, William Gibson, Kelsey Chetnik, Chloe Tessereau, Hui Mei, Silvia De Rubeis, Jennifer Reichert, Fatima Lopes, Lisenka E. L. M. Vissers, Tjitske Kleefstra, Dorothy E. Grice, Lisa Edelmann, Gabriela Soares, Patricia Maciel, Han G. Brunner, Joseph D. Buxbaum, Bruce D. Gelb, Andrew J. Sharp

    Diterbitkan 2018-05-01
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  15. 15
    Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.

    Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus. oleh Evelyn N Kouwenhoven, Simon J van Heeringen, Juan J Tena, Martin Oti, Bas E Dutilh, M Eva Alonso, Elisa de la Calle-Mustienes, Leonie Smeenk, Tuula Rinne, Lilian Parsaulian, Emine Bolat, Rasa Jurgelenaite, Martijn A Huynen, Alexander Hoischen, Joris A Veltman, Han G Brunner, Tony Roscioli, Emily Oates, Meredith Wilson, Miguel Manzanares, José Luis Gómez-Skarmeta, Hendrik G Stunnenberg, Marion Lohrum, Hans van Bokhoven, Huiqing Zhou

    Diterbitkan 2010-08-01
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  16. 16
    Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

    Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease oleh Abderrahim Marouane, Abderrahim Marouane, Kornelia Neveling, Kornelia Neveling, A. Chantal Deden, Simone van den Heuvel, Dimitra Zafeiropoulou, Steven Castelein, Frank van de Veerdonk, David A. Koolen, Annet Simons, Richard Rodenburg, Dineke Westra, Arjen R. Mensenkamp, Nicole de Leeuw, Marjolijn Ligtenberg, Rene Matthijsse, Rolph Pfundt, Erik Jan Kamsteeg, Han G. Brunner, Christian Gilissen, Ilse Feenstra, Willem P. de Boode, Helger G. Yntema, Wendy A. G. van Zelst-Stams, Marcel Nelen, Lisenka E. L. M. Vissers, Lisenka E. L. M. Vissers

    Diterbitkan 2024-01-01
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  17. 17
    Genome sequencing as a generic diagnostic strategy for rare disease

    Genome sequencing as a generic diagnostic strategy for rare disease oleh Gaby Schobers, Ronny Derks, Amber den Ouden, Hilde Swinkels, Jeroen van Reeuwijk, Ermanno Bosgoed, Dorien Lugtenberg, Su Ming Sun, Jordi Corominas Galbany, Marjan Weiss, Marinus J. Blok, Richelle A. C. M. Olde Keizer, Tom Hofste, Debby Hellebrekers, Nicole de Leeuw, Alexander Stegmann, Erik-Jan Kamsteeg, Aimee D. C. Paulussen, Marjolijn J. L. Ligtenberg, Xiangqun Zheng Bradley, John Peden, Alejandra Gutierrez, Adam Pullen, Tom Payne, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Marcel Nelen, Helger G. Yntema, Lisenka E. L. M. Vissers

    Diterbitkan 2024-02-01
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  18. 18
    Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice.

    Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. oleh Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R Fitzpatrick

    Diterbitkan 2011-07-01
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  19. 19
    Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

    Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice. oleh Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R FitzPatrick

    Diterbitkan 2018-12-01
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  20. 20
    Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing

    Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing oleh Anouk E. J. Janssen, Rebekka M. Koeck, Rick Essers, Ping Cao, Wanwisa van Dijk, Marion Drüsedau, Jeroen Meekels, Burcu Yaldiz, Maartje van de Vorst, Bart de Koning, Debby M. E. I. Hellebrekers, Servi J. C. Stevens, Su Ming Sun, Malou Heijligers, Sonja A. de Munnik, Chris M. J. van Uum, Jelle Achten, Lars Hamers, Marjan Naghdi, Lisenka E. L. M. Vissers, Ron J. T. van Golde, Guido de Wert, Jos C. F. M. Dreesen, Christine de Die-Smulders, Edith Coonen, Han G. Brunner, Arthur van den Wijngaard, Aimee D. C. Paulussen, Masoud Zamani Esteki

    Diterbitkan 2024-09-01
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