检索结果 - Anneke Maat‐Kievit

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  1. 1
    Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management

    Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management 由 Remco Haasdijk, Caroline Cheng, Anneke Maat‐Kievit, Henricus J. Duckers

    出版 2011
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  2. 2
    Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex

    Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex... 由 Őzgür Sancak, Mark Nellist, Miriam Goedbloed, Peter Elfferich, Carine Wouters, Anneke Maat‐Kievit, Bernard A. Zonnenberg, Senno Verhoef, Dicky Halley, Ans van den Ouweland

    出版 2005
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  3. 3
    A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia

    A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia 由 John C. van Swieten, Esther Brusse, Bianca M. de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat‐Kievit, Peter A. J. Leegwater, Dennis Dooijes, Ben A. Oostra, Peter Heutink

    出版 2003
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  4. 4
    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

    Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in<i>TPP1</i>, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2... 由 Yu Sun, Rowida Almomani, Guido J. Breedveld, Gijs W.E. Santen, Emmelien Aten, Dirk J. Lefeber, Jorrit I. Hoff, Esther Brusse, Frans W. Verheijen, Robert M. Verdijk, Marjolein Kriek, Ben A. Oostra, Martijn H. Breuning, Monique Losekoot, Johan T. den Dunnen, Bart P. van de Warrenburg, Anneke Maat‐Kievit

    出版 2013
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  5. 5
    Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations

    Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations 由 Mark Nellist, Rutger W. W. Brouwer, Christel Kockx, Monique van Veghel‐Plandsoen, Caroline Withagen-Hermans, Lida Prins-Bakker, Marianne Hoogeveen‐Westerveld, Alan Mršić, Mike MP van den Berg, Anna E. Koopmans, Marie‐Claire Y. de Wit, Floor E. Jansen, Anneke Maat‐Kievit, Ans van den Ouweland, Dicky Halley, Annelies de Klein, Wilfred F. J. van IJcken

    出版 2015
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  6. 6
    Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex

    Functional assessment of variants in the <i>TSC1</i> and <i>TSC2</i> genes identified in individuals with Tuberous Sclerosis Complex 由 Marianne Hoogeveen‐Westerveld, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T. den Dunnen, Kay Metcalfe, Stephanie E. Vallee, Stefan Krueger, JoAnn Bergoffen, Vandana Shashi, Frances Elmslie, David J. Kwiatkowski, Julian R. Sampson, C. Vidales, Jacinta Dzarir, Javier Garcı́a-Planells, Kira A. Dies, Anneke Maat‐Kievit, Ans van den Ouweland, Dicky Halley, Mark Nellist

    出版 2011
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  7. 7
    The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

    The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome 由 Dorien Schepers, Alexander Doyle, Gretchen Oswald, Elizabeth Sparks, Loretha Myers, Patrick J. Willems, Sahar Mansour, Michael A. Simpson, Helena Frysira, Anneke Maat‐Kievit, Rick van Minkelen, Jeanette Hoogeboom, Geert Mortier, Hannah Titheradge, Louise Brueton, Lois J. Starr, Zornitza Stark, Charlotte W. Ockeloen, Charles Marques Lourenço, Ed Blair, Emma Hobson, Jane A. Hurst, Isabelle Maystadt, Anne Destrèe, Katta M. Girisha, Michelle S. Miller, Harry C. Dietz, Bart Loeys, Lut Van Laer

    出版 2014
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  8. 8
    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome 由 Saskia M. Maas, Adam Shaw, Hennie Bikker, H.-J. Lüdecke, Karin van der Tuin, Magdalena Badura‐Stronka, Elga Fabia Belligni, Elisa Biamino, Maria Teresa Bonati, Daniel R. Carvalho, Jan-Maarten Cobben, de Man, Nicolette S. den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos‐Bieleńska, Anneke Maat‐Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian Bomme Ousager, Jacek Pilch, Astrid S. Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie T. R. M. Stumpel, Katalin Szakszon, Edit Polonkai, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joanne Verheij, Marcel M.A.M. Mannens, Raoul C. M. Hennekam

    出版 2015
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