Bilaketaren emaitzak - Gunnar Houge

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  1. 1
    Loss-of-Function <i>CNKSR2</i> Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

    Loss-of-Function <i>CNKSR2</i> Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability nork Gunnar Houge, Isabel Rasmussen, Randi Hovland

    Argitaratua 2011
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  2. 2
    The Expression of cAMP-Dependent Protein Kinase Subunits in Primary Rat Hepatocyte Cultures. Cyclic AMP Down-Regulates Its Own Effector System by Decreasing the Amount of Catalytic Subunit and Increasing the mRNAs for the Inhibitory (R) Subunits of cAMP-Dependent Protein Kinase

    The Expression of cAMP-Dependent Protein Kinase Subunits in Primary Rat Hepatocyte Cultures. Cyclic AMP Down-Regulates Its Own Effector System by Decreasing the Amount of Catalytic... nork Gunnar Houge, Olav Karsten Vintermyr, Stein Ove Døskeland

    Argitaratua 1990
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  3. 3
    Stepwise ABC system for classification of any type of genetic variant

    Stepwise ABC system for classification of any type of genetic variant nork Gunnar Houge, Andreas Laner, Sebahattin Çırak, Nicole de Leeuw, Hans Scheffer, Johan T. den Dunnen

    Argitaratua 2021
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  4. 4
    Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease

    Protein Phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease nork Iris Verbinnen, Pieter Vaneynde, Sara Reynhout, Lisa Lenaerts, Rita Derua, Gunnar Houge, Veerle Janssens

    Argitaratua 2021
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  5. 5
    Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease

    Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease nork Camilla Tøndel, Leif Bostad, Kristin Kampevold Larsen, Asle Hirth, Bjørn Egil Vikse, Gunnar Houge, Einar Svarstad

    Argitaratua 2012
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  6. 6
    Fine Mapping of 28S rRNA Sites Specifically Cleaved in Cells Undergoing Apoptosis

    Fine Mapping of 28S rRNA Sites Specifically Cleaved in Cells Undergoing Apoptosis nork Gunnar Houge, Bernard Robaye, T.S. Eikhom, J. Golstein, Gunnar Mellgren, Bjørn Tore Gjertsen, Michel Lanotte, Stein Ove Døskeland

    Argitaratua 1995
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  7. 7
    Two distinctly regulated events, priming and triggering, during retinoid-induced maturation and resistance of NB4 promyelocytic leukemia cell line.

    Two distinctly regulated events, priming and triggering, during retinoid-induced maturation and resistance of NB4 promyelocytic leukemia cell line. nork Sandrine Ruchaud, Estelle Duprez, M C Gendron, Gunnar Houge, Hans‐Gottfried Genieser, Bernd Jastorff, Stein Ove Døskeland, Michel Lanotte

    Argitaratua 1994
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  8. 8
    The intronic <i><scp>ABCA</scp>4</i> c.5461‐10T&gt;C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced <scp>ABCA</scp>4 protein level

    The intronic <i><scp>ABCA</scp>4</i> c.5461‐10T&gt;C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced <scp>ABCA</scp>4 protein level nork Ingvild Aukrust, Ragnhild Wivestad Jansson, Cecilie Bredrup, Hilde E. Rusaas, Siren Berland, Agnete Jørgensen, Marte G. Haug, Eyvind Rødahl, Gunnar Houge, Per M. Knappskog

    Argitaratua 2016
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  9. 9
    Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents

    Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents nork Dinka Smajlagić, Ksenia Lavrichenko, Siren Berland, Øyvind Helgeland, Gun Peggy Knudsen, Marc Vaudel, Jan Haavik, Per M. Knappskog, Pål R. Njølstad, Gunnar Houge, Stefan Johansson

    Argitaratua 2020
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  10. 10
    Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

    Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability nork Reza Asadollahi, Beatrice Oneda, Frenny Sheth, Silvia Azzarello‐Burri, Rosa Baldinger, Pascal Joset, Beatrice Latal, Walter Knirsch, Soaham Desai, Alessandra Baumer, Gunnar Houge, Joris Andrieux, Anita Rauch

    Argitaratua 2013
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  11. 11
    Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease

    Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease nork Rannveig Skrunes, Camilla Tøndel, Sabine Leh, Kristin Kampevold Larsen, Gunnar Houge, Einar Skulstad Davidsen, Carla E. M. Hollak, André B. P. Kuilenburg, Frédéric M. Vaz, Einar Svarstad

    Argitaratua 2017
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  12. 12
    Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

    Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features nork Markus Storbeck, Beate Horsberg Eriksen, Andreas Unger, Irmgard Hölker, Ingvild Aukrust, Lilian A. Martinez-Carrera, Wolfgang A. Linke, A. Ferbert, Raoul Heller, Matthias Vorgerd, Gunnar Houge, Brunhilde Wirth

    Argitaratua 2017
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  13. 13
    Treatment of Fabry Disease: Outcome of a Comparative Trial with Agalsidase Alfa or Beta at a Dose of 0.2 mg/kg

    Treatment of Fabry Disease: Outcome of a Comparative Trial with Agalsidase Alfa or Beta at a Dose of 0.2 mg/kg nork Anouk C. Vedder, Gabor E. Linthorst, Gunnar Houge, Johannna E.M. Groener, Els E. Ormel, Berto J. Bouma, Johannes M. F. G. Aerts, Asle Hirth, Carla E. M. Hollak

    Argitaratua 2007
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  14. 14
    Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

    Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36 nork Hitisha P. Zaveri, T. Beck, Andrés Hernández, Katharine E. Shelly, Tara Montgomery, Arie van Haeringen, Britt-Marie Anderlid, Chirag Patel, Himanshu Goel, Gunnar Houge, Bernice E. Morrow, Sau Wai Cheung, Seema R. Lalani, Daryl A. Scott

    Argitaratua 2014
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  15. 15
    Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up

    Uncertain Diagnosis of Fabry Disease in Patients with Neuropathic Pain, Angiokeratoma or Cornea Verticillata: Consensus on the Approach to Diagnosis and Follow-Up nork Linda van der Tol, David Cassiman, Gunnar Houge, Mirian C. H. Janssen, Robin Lachmann, Gabor E. Linthorst, Uma Ramaswami, Claudia Sommer, Camilla Tøndel, Michael L. West, Frank Weidemann, Frits A. Wijburg, Einar Svarstad, Carla E. M. Hollak, Marieke Biegstraaten

    Argitaratua 2014
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  16. 16
    Absent <scp>CNKSR</scp>2 causes seizures and intellectual, attention, and language deficits

    Absent <scp>CNKSR</scp>2 causes seizures and intellectual, attention, and language deficits nork Andrea K. Vaags, Sarah Bowdin, Mary‐Lou Smith, Brigitte Gilbert‐Dussardier, Katja S. Brocke‐Holmefjord, Katia J. Sinopoli, Cindy Gilles, Tove B. Haaland, Catherine Vincent‐Delorme, Emmanuelle Lagrue, Radu Harbuz, Susan Walker, Christian R. Marshall, Gunnar Houge, Vera M. Kalscheuer, Stephen W. Scherer, Berge A. Minassian

    Argitaratua 2014
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  17. 17
    The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

    The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping nork Felix Marbach, Cecilie F. Rustad, Angelika Rieß, Dejan Đukić, Tzung‐Chien Hsieh, Itamar Jobani, Trine Prescott, Andrea Bevot, Florian Erger, Gunnar Houge, Maria Redfors, Janine Altmueller, Tomasz Stokowy, Christian Gilissen, Christian Kubisch, Emanuela Scarano, Laura Mazzanti, Torunn Fiskerstrand, Peter Krawitz, Davor Lessel, Christian Netzer

    Argitaratua 2019
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  18. 18
    Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

    Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis nork Bertrand Coste, Gunnar Houge, Michael F. Murray, Nathan O. Stitziel, Michael Bandell, Monica A. Giovanni, Anthony Philippakis, Alexander Hoischen, Gunnar Riemer, Unni Steen, Vidar M. Steen, Jayanti Mathur, James J. Cox, Matthew S. Lebo, Heidi L. Rehm, Scott T. Weiss, John N. Wood, Richard L. Maas, Shamil R. Sunyaev, Ardem Patapoutian

    Argitaratua 2013
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  19. 19
    Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation

    Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation nork Shawn Yost, Bas de Wolf, Sandra Hanks, Anna Zachariou, Chiara Marcozzi, Matthew Clarke, Richarda M. de Voer, Banafsheh Etemad, Esther C. H. Uijttewaal, Emma Ramsay, Harriet Wylie, Anna Elliott, Susan Picton, Audrey Smith, Sarah Smithson, Sheila Seal, Elise Ruark, Gunnar Houge, Jonathon Pines, Geert J.P.L. Kops, Nazneen Rahman

    Argitaratua 2017
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  20. 20
    Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

    Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, an... nork Francesca Pasutto, Heinrich Sticht, G. Hammersen, Gabriele Gillessen‐Kaesbach, David Fitzpatrick, Gudrun Nürnberg, Frank Brasch, Heidemarie Schirmer-Zimmermann, John Tolmie, David Chitayat, Gunnar Houge, Lorena T. Fernández‐Martínez, Sarah Keating, Geert Mortier, Raoul C. M. Hennekam, A von der Wense, Anne Slavotinek, Peter Meinecke, Pierre Bitoun, Christian Becker, Peter Nürnberg, André Reis, Anita Rauch

    Argitaratua 2007
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