Rezultaty - Annemieke J.M.H. Verkerk
- Rezultaty 1 - 19 Rezultaty od 19
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Characterization and localization of the FMR-1 gene product associated with fragile X syndrome od Coleta Verheij, Cathy Bakker, Esther de Graaff, J. L. M. Keulemans, Rob Willemsen, Annemieke J.M.H. Verkerk, H. Galjaard, Arnold Reuser, A. T. Hoogeveen, Ben A. Oostra
Wydane 1993Artigo -
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Allelic imbalance of expression and epigenetic regulation within the alpha-synuclein wild-type and p.Ala53Thr alleles in Parkinson disease od Gerassimos E. Voutsinas, Eleana F. Stavrou, Gerassimos Karousos, Aggeliki Dasoula, Adamantia Papachatzopoulou, Maria Syrrou, Annemieke J.M.H. Verkerk, Peter J. van der Spek, George P. Patrinos, Reinhard Stöger, Aglaia Athanassiadou
Wydane 2010Artigo -
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Alternative splicing in the fragile X gene <i>FMR1</i> od Annemieke J.M.H. Verkerk, Esther de Graaff, Kristel De Boulle, Evan E. Eichler, David Konecki, Edwin Reyniers, Antonella Manca, Annemarie Poustka, Patrick J. Willems, David L. Nelson, B. A. Oostra
Wydane 1993Artigo -
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Identification of the critical region of 12p over-representation in testicular germ cell tumors of adolescents and adults od Marijke Mostert, Annemieke J.M.H. Verkerk, Mirjam van de Pol, Jim Heighway, Peter Marynen, Carla Rosenberg, Ad Geurts van Kessel, Jannie van Echten, Bauke M. de Jong, J. Wolter Oosterhuis, Leendert H. J. Looijenga
Wydane 1998Artigo -
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Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral Density od Sabine E Hannema, Jan M. Wit, Mieke E.C.A.M. Houdijk, Arie van Haeringen, Elsa C. Bik, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Sarina G. Kant, Wilma Oostdijk, Egbert Bakker, Henriëtte A. Delemarre‐van de Waal, Monique Losekoot
Wydane 2016Artigo -
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PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations od Wilma Oostdijk, Jan Idkowiak, Jonathan Wolf Mueller, Philip J House, Angela E. Taylor, Michael O’Reilly, Beverly Hughes, Martine C. de Vries, Sarina G. Kant, Gijs W.E. Santen, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Jan M. Wit, Monique Losekoot, Wiebke Arlt
Wydane 2015Artigo -
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A comparison of genotyping arrays od Joost Verlouw, Eva Clemens, Jard H. de Vries, Oliver Zolk, Annemieke J.M.H. Verkerk, Antoinette am Zehnhoff‐Dinnesen, Carolina Medina‐Gómez, Claudia Lanvers‐Kaminsky, Fernando Rivadeneira, Thorsten Langer, Joyce B. J. van Meurs, Marry M. van den Heuvel‐Eibrink, André G. Uitterlinden, Linda Broer
Wydane 2021Artigo -
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A novel variant of FGFR3 causes proportionate short stature od Sarina G. Kant, Iveta Cervenkova, Lukáš Bálek, Lukáš Trantı́rek, Gijs W.E. Santen, Martine C. de Vries, Hermine A. van Duyvenvoorde, Michiel J.R. van der Wielen, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Sabine E Hannema, Jan M. Wit, Wilma Oostdijk, Pavel Krejčı́, Monique Losekoot
Wydane 2015Artigo -
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An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities od Sabine E Hannema, Hermine A. van Duyvenvoorde, Thomas Premsler, Ruey‐Bing Yang, Thomas D. Mueller, Birgit Gaßner, Heike Oberwinkler, Ferdinand Roelfsema, Gijs W.E. Santen, Timothy C. R. Prickett, Sarina G. Kant, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Eric A. Espiner, Claudia Ruivenkamp, Wilma Oostdijk, Alberto M. Pereira, Monique Losekoot, Michaela Kühn, Jan M. Wit
Wydane 2013Artigo -
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Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin od Joseph Borg, Petros Papadopoulos, Marianthi Georgitsi, Laura Gutiérrez, Godfrey Grech, Pavlos Fanis, Marios Phylactides, Annemieke J.M.H. Verkerk, Peter J. van der Spek, Christian Scerri, Wilhelmina Cassar, Ruth Galdies, Wilfred F. J. van IJcken, Zeliha Özgür, Nynke Gillemans, Jun Hou, Marisa Bugeja, Frank Grosveld, Marieke von Lindern, Alex E. Felice, George P. Patrinos, Sjaak Philipsen
Wydane 2010Artigo -
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PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology od Tsz Hang Wong, Wang Zheng Chiu, Guido J. Breedveld, Ka Wan Li, Annemieke J.M.H. Verkerk, David Hondius, Renate K. Hukema, Harro Seelaar, Petra Frick, Lies‐Anne Severijnen, Gert Jan Lammers, Joyce H.G. Lebbink, Sjoerd G. van Duinen, Wouter Kamphorst, Annemieke J.M. Rozemüller, E. Bert Bakker, Manuela Neumann, Rob Willemsen, Vincenzo Bonifati, August B. Smit, John C. van Swieten
Wydane 2014Artigo -
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Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy od Annemieke J.M.H. Verkerk, Rachel Schot, Belinda Dumee, Karlijn Schellekens, Sigrid Swagemakers, Aida M. Bertoli‐Avella, Maarten H. Lequin, Jeroen Dudink, Paul Govaert, Arjen L. van Zwol, Jennifer Hirst, Marja W. Wessels, Coriene E. Catsman‐Berrevoets, Frans W. Verheijen, Esther de Graaff, I.F.M. de Coo, Johan M. Kros, Rob Willemsen, Patrick J. Willems, Peter J. van der Spek, Grazia M.S. Mancini
Wydane 2009Artigo -
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<i>NPHP4</i> Variants Are Associated With Pleiotropic Heart Malformations od Vanessa French, Ingrid M.B.H. van de Laar, Marja W. Wessels, Christan F. Rohé, Jolien W. Roos‐Hesselink, Guangliang Wang, Ingrid M.E. Frohn-Mulder, Lies‐Anne Severijnen, Bianca M. de Graaf, Rachel Schot, Guido J. Breedveld, Edwin Mientjes, Marianne van Tienhoven, Elodie Jadot, Zhengxin Jiang, Annemieke J.M.H. Verkerk, Sigrid M.A. Swagemakers, Hanka Venselaar, Zohreh Rahimi, Hossein Najmabadi, Hanne Meijers-Heijboer, Esther de Graaff, Wim A. Helbing, Rob Willemsen, Koenraad Devriendt, John W. Belmont, Ben A. Oostra, Jeffrey D. Amack, Aida M. Bertoli‐Avella
Wydane 2012Artigo -
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<i>PLS3</i> Mutations in X-Linked Osteoporosis with Fractures od Fleur S. van Dijk, M. Carola Zillikens, Dimitra Micha, Markus Rießland, Carlo Marcelis, C E de Die-Smulders, Janine Milbradt, Anton Franken, Arjan J. Harsevoort, Klaske D. Lichtenbelt, Hans E. Pruijs, M. Estela Rubio‐Gozalbo, Rolf Zwertbroek, Youssef Moutaouakil, Jaqueline Egthuijsen, Matthias Hammerschmidt, Renate Bijman, C.M. Semeins, Astrid D. Bakker, Vincent Everts, Jenneke Klein‐Nulend, Natalia Campos‐Obando, Albert Hofman, Gerard J. te Meerman, Annemieke J.M.H. Verkerk, André G. Uitterlinden, Alessandra Maugeri, Erik A. Sistermans, Quinten Waisfisz, Hanne Meijers‐Heijboer, Brunhilde Wirth, Marleen Simon, Gerard Pals
Wydane 2013Artigo -
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Genome Scan for Tourette Disorder in Affected-Sibling-Pair and Multigenerational Families od David Pauls, Daniëlle C. Cath, Peter Heutink, Marco A. Grados, Harvey S. Singer, John T. Walkup, Cornelia Illmann, Jeremiah M. Scharf, Susan L. Santangelo, S. Evelyn Stewart, Jill Platko, David L. Pauls, Nancy J. Cox, Mary M. Robertson, Dianne Keen‐Kim, C. Sabatti, Nelson Freimer, Guy A. Rouleau, Julie Rivière, Sylvie Chouinard, F. Richer, Paul Lespérance, Yves Dion, ROBERT A. KING, J.R. Kidd, A. J. Pakstis, James F. Leckman, Kenneth K. Kídd, George S. Gericke, Roger Kurlan, Peter G. Como, Donna Palumbo, Annemieke J.M.H. Verkerk, B. A. Oostra, William McMahon, Mark Leppert, Hilary Coon, Carol A. Mathews, Paul Sandor, Cathy L. Barr, Christine Bétard, Diana Zélénika
Wydane 2007Artigo -
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A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14 od Abbas M Solouki, Virginie J. M. Verhoeven, Cornelia M. van Duijn, Annemieke J.M.H. Verkerk, M. Kamran Ikram, Pirro G. Hysi, Dominiek D. G. Despriet, L. M. van Koolwijk, Lintje Ho, Wishal D. Ramdas, Monika A. Czudowska, Robert W. A. M. Kuijpers, Najaf Amin, Maksim Struchalin, Yurii S. Aulchenko, Gabriël van Rij, Frans C. C. Riemslag, Terri L. Young, David A. Mackey, Timothy D. Spector, Theo G. M. F. Gorgels, Jacqueline J M Willemse-Assink, Aaron Isaacs, R. Kramer, Sigrid M.A. Swagemakers, Arthur A. Bergen, Andy A L J van Oosterhout, Ben A. Oostra, Fernando Rivadeneira, André G. Uitterlinden, Albert Hofman, Paulus T.V.M. de Jong, Christopher J. Hammond, Johannes R. Vingerling, Caroline C. W. Klaver
Wydane 2010Artigo -
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Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia od Virginie J. M. Verhoeven, Pirro G. Hysi, Robert Wojciechowski, Qiao Fan, Jeremy A. Guggenheim, René Höhn, Stuart MacGregor, Alex W. Hewitt, Abhishek Nag, Ching‐Yu Cheng, Ekaterina Yonova‐Doing, Xin Zhou, M. Kamran Ikram, Gabriëlle H.S. Buitendijk, George McMahon, John P. Kemp, Beaté St Pourcain, Claire L. Simpson, Kari-Matti Mäkelä, Terho Lehtimäki, Mika Kähönen, Andrew D. Paterson, S. Mohsen Hosseini, Hoi Suen Wong, Liang Xu, Jost B. Jonas, Olavi Pärssinen, Juho Wedenoja, Shea Ping Yip, Daniel Wai‐Hung Ho, Chi Pui Pang, Li Jia Chen, Kathryn P. Burdon, Jamie E. Craig, Barbara E.K. Klein, Ronald Klein, Toomas Haller, Andres Metspalu, Chiea Chuen Khor, E Shyong Tai, Tin Aung, Eranga N. Vithana, Wan-Ting Tay, Veluchamy A. Barathi, Peng Chen, Ruoying Li, Jiemin Liao, Yingfeng Zheng, Rick Twee‐Hee Ong, Angela Döring, David M. Evans, Nicholas J. Timpson, Annemieke J.M.H. Verkerk, Thomas Meitinger, Olli T. Raitakari, Felicia Hawthorne, Tim D. Spector, Lennart C. Karssen, Mario Pirastu, Federico Murgia, Wei Ang, Aniket Mishra, Grant W. Montgomery, Craig E. Pennell, Phillippa Cumberland, Ioana Cotlarciuc, Paul Mitchell, Jie Jin Wang, Maria Schäche, Sarayut Janmahasatian, Robert P. Igo, Jonathan H. Lass, Emily Y. Chew, Sudha K. Iyengar, Theo G. M. F. Gorgels, Igor Rudan, Caroline Hayward, Alan F. Wright, Ozren Polašek, Zoran Vatavuk, James F. Wilson, Brian W. Fleck, Tanja Zeller, Alireza Mirshahi, Christian Müller, André G. Uitterlinden, Fernando Rivadeneira, Johannes R. Vingerling, Albert Hofman, Ben A. Oostra, Najaf Amin, Arthur A. Bergen, Yik‐Ying Teo, Jugnoo S. Rahi, Véronique Vitart, Cathy Williams, Paul N. Baird, Tien Yin Wong, Konrad Oexle, Norbert Pfeiffer
Wydane 2013Revisão
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