Bilaketaren emaitzak - Aimée Paulussen

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  1. 1
    Fruit consumption reduces the effect of smoking on bladder cancer risk. The Belgian case control study on bladder cancer

    Fruit consumption reduces the effect of smoking on bladder cancer risk. The Belgian case control study on bladder cancer nork Eliane Kellen, Maurice P. Zeegers, Aimée Paulussen, Martien van Dongen, Frank Buntinx

    Argitaratua 2005
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  2. 2
    A Novel Mutation (T65P) in the PAS Domain of the Human Potassium Channel HERG Results in the Long QT Syndrome by Trafficking Deficiency

    A Novel Mutation (T65P) in the PAS Domain of the Human Potassium Channel HERG Results in the Long QT Syndrome by Trafficking Deficiency nork Aimée Paulussen, Adam Raes, Gert Matthijs, Dirk J. Snyders, Nadine Cohen, Jeroen Aerssens

    Argitaratua 2002
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  3. 3
    Carbamoyl Phosphate Synthetase Polymorphisms as a Risk Factor for Necrotizing Enterocolitis

    Carbamoyl Phosphate Synthetase Polymorphisms as a Risk Factor for Necrotizing Enterocolitis nork Rob Moonen, Aimée Paulussen, Nicole Y. Souren, Alfons G.H. Kessels, M. Estela Rubio‐Gozalbo, Eduardo Villamor

    Argitaratua 2007
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  4. 4
    Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

    Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification nork Rick Kamps, Rita D. Brandão, B.J.C. van den Bosch, Aimée Paulussen, Sofia Xanthoulea, Marinus J. Blok, Andrea Romano

    Argitaratua 2017
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  5. 5
    Anthropometry, carbohydrate and lipid metabolism in the East Flanders Prospective Twin Survey: heritabilities

    Anthropometry, carbohydrate and lipid metabolism in the East Flanders Prospective Twin Survey: heritabilities nork Nicole Y. Souren, Aimée Paulussen, Ruth J. F. Loos, Marij Gielen, Gastón Beunen, R. Fagard, Cathérine Derom, Robert Vlietinck, Maurice P. Zeegers

    Argitaratua 2007
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  6. 6
    Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012

    Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012 nork Elke Mersy, Luc Smits, L.A.A.P. van Winden, Christine de Die‐Smulders, Aimée Paulussen, Merryn Macville, A. Coumans, Suzanna G.M. Frints

    Argitaratua 2013
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  7. 7
    The full spectrum of holoprosencephaly-associated mutations within the<i>ZIC2</i>gene in humans predicts loss-of-function as the predominant disease mechanism

    The full spectrum of holoprosencephaly-associated mutations within the<i>ZIC2</i>gene in humans predicts loss-of-function as the predominant disease mechanism nork Erich Roessler, Felicitas Lacbawan, Christ��le Dubourg, Aimée Paulussen, J. Herbergs, Ute Hehr, Claude Bendavid, Nan Zhou, Maia V. Ouspenskaia, Sherri J. Bale, Sylvie Odent, V�ronique David, Maximilian Muenke

    Argitaratua 2009
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  8. 8
    Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma

    Acquired resistance to the Hedgehog pathway inhibitor vismodegib due to smoothened mutations in treatment of locally advanced basal cell carcinoma nork Tjinta Brinkhuizen, Marie G.H.C. Reinders, Michel van Geel, Annelot J.L. Hendriksen, Aimée Paulussen, Véronique Winnepenninckx, Kristien Keymeulen, Patricia M.M.B. Soetekouw, Maurice A. M. Van Steensel, Klara Mosterd

    Argitaratua 2014
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  9. 9
    Preimplantation Genetic Testing for Monogenic Kidney Disease

    Preimplantation Genetic Testing for Monogenic Kidney Disease nork Rozemarijn Snoek, Marijn Stokman, Klaske D. Lichtenbelt, Theodora C van Tilborg, Cindy E. Simcox, Aimée Paulussen, Jos C.M.F. Dreesen, Franka van Reekum, A. Titia Lely, Nine Knoers, Christine de Die‐Smulders, Albertien M. van Eerde

    Argitaratua 2020
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  10. 10
    Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro

    Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro nork Senthilkumar A. Natesan, Alex J. Bladon, Serdar Coşkun, Wafa Qubbaj, R. Prates, S. Munné, Edith Coonen, J. Dreesen, Servi J.C. Stevens, Aimée Paulussen, Sharyn Stock‐Myer, L. Wilton, Souraya Jaroudi, Dagan Wells, Anthony P. Brown, Alan H. Handyside

    Argitaratua 2014
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  11. 11
    Mutation-specific effects in germline transmission of pathogenic mtDNA variants

    Mutation-specific effects in germline transmission of pathogenic mtDNA variants nork Auke B.C. Otten, Suzanne C.E.H. Sallevelt, Phillippa J. Carling, J. Dreesen, Marion Drüsedau, Sabine Spierts, Aimée Paulussen, Christine de Die‐Smulders, Mary Herbert, Patrick F. Chinnery, David C. Samuels, Patrick Lindsey, Hubert J.M. Smeets

    Argitaratua 2018
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  12. 12
    The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

    The mutational spectrum of holoprosencephaly-associated changes within the<i>SHH</i>gene in humans predicts loss-of-function through either key structural alterations of the ligand... nork Erich Roessler, Kênia Balbi El-Jaick, Christèle Dubourg, Jorge I. Vélez, Benjamin D. Solomon, Daniel Pineda‐Alvarez, Felicitas Lacbawan, Nan Zhou, Maia V. Ouspenskaia, Aimée Paulussen, Hubert Smeets, Ute Hehr, Claude Bendavid, Sherri J. Bale, Sylvie Odent, Véronique David, Maximilian Muenke

    Argitaratua 2009
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  13. 13
    Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

    Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice nork Suzanne C.E.H. Sallevelt, Alexander P.A. Stegmann, Bart de Koning, Crool Velter, Anja Steyls, Melanie van Esch, Phillis Lakeman, Helger G. Yntema, Masoud Zamani Esteki, Christine de Die‐Smulders, Christian Gilissen, Arthur van den Wijngaard, Han G. Brunner, Aimée Paulussen

    Argitaratua 2021
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  14. 14
    BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD

    BRCA1 mutation carriers have a lower number of mature oocytes after ovarian stimulation for IVF/PGD nork I. A. P. Derks-Smeets, Theodora C van Tilborg, Aafke P.A. van Montfoort, Luc Smits, Helen L. Torrance, M. Meijer‐Hoogeveen, Frank J. Broekmans, Jos Dreesen, Aimée Paulussen, Vivianne C. G. Tjan‐Heijnen, Irene Homminga, Merel M.J. van den Berg, Margreet G.E.M. Ausems, Martine De Rycke, Christine de Die‐Smulders, Willem Verpoest, R. van Golde

    Argitaratua 2017
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  15. 15
    Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

    Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging nork Chantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou, Christian Gilissen, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Brigitte H. W. Faas, Thatjana Gardeitchik, Suzanne C.E.H. Sallevelt, Aimée Paulussen, Servi J.C. Stevens, Esther Sikkel, Mariet W. Elting, Merel C. van Maarle, Karin E. M. Diderich, Nicole Corsten‐Janssen, Klaske D. Lichtenbelt, Guus Lachmeijer, Lisenka E.L.M. Vissers, Helger G. Yntema, Marcel Nelen, Ilse Feenstra, Wendy A.G. van Zelst–Stams

    Argitaratua 2020
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  16. 16
    Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

    Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss nork Rick Essers, И. Н. Лебедев, Ants Kurg, Е. А. Фонова, Servi J.C. Stevens, Rebekka M. Koeck, Ulrike von Rango, Lloyd Brandts, Spyridon Panagiotis Deligiannis, Nikitina Tv, Е. А. Саженова, Е. Н. Толмачева, А. А. Кашеварова, D. A. Fedotov, Viktoria V. Demeneva, Д. И. Жигалина, Г.В. Дроздов, Salwan Al‐Nasiry, Merryn Macville, Arthur van den Wijngaard, Jos Dreesen, Aimée Paulussen, Alexander Hoischen, Han G. Brunner, Andres Salumets, Masoud Zamani Esteki

    Argitaratua 2023
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  17. 17
    MLL2 mutation spectrum in 45 patients with Kabuki syndrome

    MLL2 mutation spectrum in 45 patients with Kabuki syndrome nork Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok, Demis Tserpelis, Crool Posma-Velter, Yvonne Detisch, Eric Smeets, Annemieke Wagemans, Jaap J.P. Schrander, Marie-José H. van den Boogaard, Jasper van der Smagt, Arie van Haeringen, Irene Stolte‐Dijkstra, Wilhelmina S. Kerstjens‐Frederikse, Grazia M.S. Mancini, Marja W. Wessels, Raoul C. M. Hennekam, Maaike Vreeburg, Joep Geraedts, Thomy de Ravel, Jean‐Pierre Fryns, Hubert Smeets, Koenraad Devriendt, C. T. R. M. Schrander‐Stumpel

    Argitaratua 2010
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  18. 18
    Hypertrophic remodelling in cardiac regulatory myosin light chain (<i>MYL2</i>) founder mutation carriers

    Hypertrophic remodelling in cardiac regulatory myosin light chain (<i>MYL2</i>) founder mutation carriers nork Godelieve R.F. Claes, Florence H. J. van Tienen, Patrick Lindsey, Ingrid P.C. Krapels, Apollonia T.J.M. Helderman-van den Enden, Marije B. Hoos, Yvette E.G. Barrois, Johanna W. H. Janssen, Aimée Paulussen, Jan-Willem E. M. Sels, S. H. H. Kuijpers, J. Peter van Tintelen, Maarten P. van den Berg, Wilfred F. Heesen, Pablo García‐Pavía, Andreas Perrot, Imke Christiaans, Simone Salemink, Carlo Marcelis, H.J.M. Smeets, Han G. Brunner, Paul G.A. Volders, Arthur van den Wijngaard

    Argitaratua 2015
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  19. 19
    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 nork A 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, Juul Achten, Lars Hamers, Marjan Naghdi, Lisenka E.L.M. Vissers, Ron J T van Golde, Guido de Wert, Jos Dreesen, Christine de Die‐Smulders, Edith Coonen, Han G. Brunner, Arthur van den Wijngaard, Aimée Paulussen, Masoud Zamani Esteki

    Argitaratua 2024
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  20. 20
    Genome sequencing as a generic diagnostic strategy for rare disease

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

    Argitaratua 2024
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