检索结果 - Dicky Halley

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  1. 1
    Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype.

    Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype. 由 Henk J. Veeze, Dicky Halley, Jan Bijman, J.C. de Jongste, Hugo R. de Jonge, M. Sinaasappel

    出版 1994
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  2. 2
    Characterization of the Cytosolic Tuberin-Hamartin Complex

    Characterization of the Cytosolic Tuberin-Hamartin Complex 由 Mark Nellist, Marjon A. van Slegtenhorst, Miriam Goedbloed, Ans M.W. van den Ouweland, Dicky Halley, Peter van der Sluijs

    出版 1999
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  3. 3
    Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

    Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating 由 Marian A. Kroos, Robert J. Pomponio, Laura Van de Vliet, Rachel Palmer, Michael Phipps, Robert van der Helm, Dicky Halley, Arnold Reuser

    出版 2008
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  4. 4
    Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

    Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype 由 Marlies J. Valstar, Hennie T. Brüggenwirth, Renske Olmer, Ron A. Wevers, Frans W. Verheijen, Ben J. H. M. Poorthuis, Dicky Halley, Frits A. Wijburg

    出版 2010
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  5. 5
    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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  6. 6
    Distinct effects of single amino-acid changes to tuberin on the function of the tuberin–hamartin complex

    Distinct effects of single amino-acid changes to tuberin on the function of the tuberin–hamartin complex 由 Mark Nellist, Őzgür Sancak, Miriam Goedbloed, Christan F. Rohé, Diana van Netten, Karin Mayer, Aimee Tucker-Williams, Ans M.W. van den Ouweland, Dicky Halley

    出版 2004
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  7. 7
    Residual chloride secretion in intestinal tissue of ΔF508 homozygous twins and siblings with cystic fibrosis

    Residual chloride secretion in intestinal tissue of ΔF508 homozygous twins and siblings with cystic fibrosis 由 Inez Bronsveld, Frauke Mekus, Jan Bijman, Manfred Ballmann, Joachim Greipel, J. Hundrieser, Dicky Halley, Ulrike Laabs, Roger Busche, Hugo R. de Jonge, Burkhard Tümmler, Henk J. Veeze

    出版 2000
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  8. 8
    Common C-to-T Substitution at Position −480 of the Hepatic Lipase Promoter Associated With a Lowered Lipase Activity in Coronary Artery Disease Patients

    Common C-to-T Substitution at Position −480 of the Hepatic Lipase Promoter Associated With a Lowered Lipase Activity in Coronary Artery Disease Patients 由 Hans Jansen, Adrie J.M. Verhoeven, Lilian Weeks, John J.P. Kastelein, Dicky Halley, Ans van den Ouweland, J. Wouter Jukema, Jacob C. Seidell, J.C. Birkenhäger

    出版 1997
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  9. 9
    Chloride conductance and genetic background modulate the cystic fibrosis phenotype of ΔF508 homozygous twins and siblings

    Chloride conductance and genetic background modulate the cystic fibrosis phenotype of ΔF508 homozygous twins and siblings 由 Inez Bronsveld, Frauke Mekus, Jan Bijman, Manfred Ballmann, Hugo R. de Jonge, Ulrike Laabs, Dicky Halley, Helmut Ellemunter, G. Mastella, Stephen H. Thomas, Henk J. Veeze, Burkhard Tümmler

    出版 2001
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  10. 10
    Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation

    Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation 由 Marjon van Slegtenhorst, Senno Verhoef, A.M.P. Tempelaars, Lida Bakker, Qi Wang, Marja W. Wessels, Remco Bakker, Mark Nellist, Dick Lindhout, Dicky Halley, Ans van den Ouweland

    出版 1999
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  11. 11
    Phosphatidylinositol 3-Kinase/Akt Pathway Regulates Tuberous Sclerosis Tumor Suppressor Complex by Phosphorylation of Tuberin

    Phosphatidylinositol 3-Kinase/Akt Pathway Regulates Tuberous Sclerosis Tumor Suppressor Complex by Phosphorylation of Tuberin 由 Han C. Dan, Mei Sun, Lin Yang, Richard I. Feldman, Xue-Mei Sui, Chien Chen Ou, Mark Nellist, Raymond S. Yeung, Dicky Halley, Santo V. Nicosia, W. J. Pledger, Jin Cheng

    出版 2002
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  12. 12
    A Cystic Fibrosis Mutation Associated with Mild Lung Disease

    A Cystic Fibrosis Mutation Associated with Mild Lung Disease 由 K. H. Gan, Henk J. Veeze, Ans van den Ouweland, Dicky Halley, Hans Scheffer, Annemieke van der Hout, Shelley E. Overbeek, Johan C. de Jongste, Willem H. Bakker, Harry Heijerman

    出版 1995
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  13. 13
    Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

    Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase 由 Marion M. Brands, Marianne Hoogeveen‐Westerveld, Marian A. Kroos, Willemieke Nobel, George J. G. Ruijter, Lale Özkan, Iris Plug, Daniel Grinberg, Lluı̈sa Vilageliu, Dicky Halley, Ans T. van der Ploeg, Arnold Reuser

    出版 2013
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  14. 14
    Novel mutations in theLKB1/STK11 gene in Dutch Peutz-Jeghers families

    Novel mutations in theLKB1/STK11 gene in Dutch Peutz-Jeghers families 由 Anne Marie Westerman, Mark M. Entius, Patrick P.C. Boor, Rita Koole, Ellen de Baar, G. Johan A. Offerhaus, Jan Lubiński, Dick Lindhout, Dicky Halley, Felix W.M. de Rooij, J. H. P. Wilson

    出版 1999
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  15. 15
    Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey

    Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey 由 Bert de Vries, Ans M.W. van den Ouweland, Serieta Mohkamsing, Hugo J. Duivenvoorden, Esther Mol, Kirsten Gelsema, Monique van Rijn, Dicky Halley, Lodewijk A. Sandkuijl, Ben A. Oostra, Aad Tibben, Martinus F. Niermeijer

    出版 1997
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  16. 16
    A prospective 10 year follow up study of patients with neurofibromatosis type 1

    A prospective 10 year follow up study of patients with neurofibromatosis type 1 由 Marjon H. Cnossen, Arja de Goede-Bolder, K M van den Broek, C M E Waasdorp, A. P. Oranje, Hans Stroink, Huibert J. Simonsz, A.M.W. van den Ouweland, Dicky Halley, Martinus F. Niermeijer

    出版 1998
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  17. 17
    Endocrinologic Disorders and Optic Pathway Gliomas in Children With Neurofibromatosis Type 1

    Endocrinologic Disorders and Optic Pathway Gliomas in Children With Neurofibromatosis Type 1 由 Marjon H. Cnossen, Esther N. Stam, Linda C. M. G. Cooiman, Huibert J. Simonsz, Hans Stroink, Arnold P. Oranje, Dicky Halley, Arja de Goede-Bolder, Martinus F. Niermeijer, Sabine M.P.F. de Muinck Keizer‐Schrama

    出版 1997
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  18. 18
    Functional Assessment of<i>TSC2</i>Variants Identified in Individuals with Tuberous Sclerosis Complex

    Functional Assessment of<i>TSC2</i>Variants Identified in Individuals with Tuberous Sclerosis Complex 由 Marianne Hoogeveen‐Westerveld, Rosemary Ekong, Sue Povey, Karin Mayer, N. Lannoy, Frances Elmslie, Martina Bebin, Kira A. Dies, Catherine Thompson, Steven Sparagana, Peter Maxwell Davies, Agnies M. van Eeghen, Elizabeth A. Thiele, Ans van den Ouweland, Dicky Halley, Mark Nellist

    出版 2013
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  19. 19
    COL4A2 mutation associated with familial porencephaly and small-vessel disease

    COL4A2 mutation associated with familial porencephaly and small-vessel disease 由 Elly Verbeek, Marije Meuwissen, Frans W. Verheijen, Paul Govaert, Daniel J. Licht, Debbie S. Kuo, Cathryn Poulton, Rachel Schot, Maarten H. Lequin, Jeroen Dudink, Dicky Halley, I.F.M. de Coo, Jan C. den Hollander, Renske Oegema, Douglas B. Gould, Grazia M.S. Mancini

    出版 2012
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  20. 20
    17β-Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations1

    17β-Hydroxysteroid Dehydrogenase-3 Deficiency: Diagnosis, Phenotypic Variability, Population Genetics, and Worldwide Distribution of Ancient and de Novo Mutations1 由 Annemie L. M. Boehmer, Albert O. Brinkmann, Lodewijk A. Sandkuijl, Dicky Halley, Martinus F. Niermeijer, Stefan Andersson, Frank H. de Jong, Hülya Kayserili, Monique A. de Vroede, Barto J. Otten, Catrienus W. Rouwé, Berenice B. Mendonça, Cidade Rodrigues, Hans H. Bode, Petra E. de Ruiter, Henriëtte A. Delemarre‐van de Waal, Stenvert L. S. Drop

    出版 1999
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