Search Results - Rune R. Frants

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  1. 1
    The D4Z4 Repeat–Mediated Pathogenesis of Facioscapulohumeral Muscular Dystrophy

    The D4Z4 Repeat–Mediated Pathogenesis of Facioscapulohumeral Muscular Dystrophy by Silvère M. van der Maarel, Rune R. Frants

    Published 2005
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  2. 2
    Alpha-1 antitrypsin Null mutations and severity of emphysema

    Alpha-1 antitrypsin Null mutations and severity of emphysema by Laura Fregonese, Jan Stolk, Rune R. Frants, Barbera Veldhuisen

    Published 2008
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  3. 3
    Facioscapulohumeral muscular dystrophy

    Facioscapulohumeral muscular dystrophy by Silvère M. van der Maarel, Rune R. Frants, George W. Padberg

    Published 2006
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  4. 4
    Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels

    Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels by Peter de Knijff, Arn M. J. M. van den Maagdenberg, Rune R. Frants, Louis M. Havekes

    Published 1994
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  5. 5
    Facioscapulohumeral muscular dystrophy in the dutch population

    Facioscapulohumeral muscular dystrophy in the dutch population by G.W. Padberg, Rune R. Frants, Oebele F. Brouwer, Cisca Wijmenga, Egbert Bakker, Lodewijk A. Sandkuijl

    Published 1995
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  6. 6
    Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy.

    Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophy. by Rossella Tupler, Angela Berardinelli, Laura Barbierato, Rune R. Frants, J. Hewitt, Giovanni Lanzi, P Maraschio, L. Tiepolo

    Published 1996
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  7. 7
    The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.

    The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finlan... by Ulla‐Maija Koivisto, Hannu Turtola, Katriina Aalto‐Setälä, Bert Top, Rune R. Frants, Petri T. Kovanen, A C Syvänen, Kimmo Kontula

    Published 1992
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  8. 8
    Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy

    Contractions of D4Z4 on 4qB Subtelomeres Do Not Cause Facioscapulohumeral Muscular Dystrophy by Richard J F L Lemmers, Mariëlle Wohlgemuth, Rune R. Frants, George W. Padberg, Éva Morava, Silvère M. van der Maarel

    Published 2004
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  9. 9
    Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion ofp16 (p16-Leiden)

    Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion ofp16 (p16-Leiden) by Hans F. A. Vasen, Nelleke A. Gruis, Rune R. Frants, Pieter A. van der Velden, E.T.M. Hille, W. Bergman

    Published 2000
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  10. 10
    Melanocortin-1 Receptor Variant R151C Modifies Melanoma Risk in Dutch Families with Melanoma

    Melanocortin-1 Receptor Variant R151C Modifies Melanoma Risk in Dutch Families with Melanoma by Pieter A. van der Velden, Lodewijk A. Sandkuijl, Wilma Bergman, Stan Pavel, Leny van Mourik, Rune R. Frants, Nelleke A. Gruis

    Published 2001
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  11. 11
    Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle

    Calpain 3 is a modulator of the dysferlin protein complex in skeletal muscle by Yanchao Huang, Antoine de Morrée, Alexandra van Remoortere, Kate Bushby, Rune R. Frants, Johan T. den Dunnen, Silvère M. van der Maarel

    Published 2008
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  12. 12
    On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy

    On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy by George W. Padberg, Oebele F. Brouwer, R. J. W. De Keizer, Greet Dijkman, Cisca Wijmenga, J. J. Grote, Rune R. Frants

    Published 1995
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  13. 13
    Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level

    Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level by Rinse Klooster, Kirsten R. Straasheijm, Bharati Shah, Janet E. Sowden, Rune R. Frants, Charles A. Thornton, Rabi Tawil, Silvère M. van der Maarel

    Published 2009
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  14. 14
    The FSHD-linked locus D4F104S1 (p13E-11) ON 4q35 has a homologue on 10qter

    The FSHD-linked locus D4F104S1 (p13E-11) ON 4q35 has a homologue on 10qter by E.H. Bakker, Cisca Wijmenga, Rolf H. A. M. Vossen, George W. Padberg, Jane Hewitt, Michiel van der Wielen, Kirsten Rasmussen, Rune R. Frants

    Published 1995
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  15. 15
    Effect of Oral Omeprazole on Serum Gastrin and Serum Pepsinogen I Levels

    Effect of Oral Omeprazole on Serum Gastrin and Serum Pepsinogen I Levels by H.P.M. Festen, J C Thijs, C. B. H. W. Lamers, Jarno Jansen, Gerard Pals, Rune R. Frants, J. Défize, S. G. M. Meuwissen

    Published 1984
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  16. 16
    Genetic Architecture of Plasma Adiponectin Overlaps With the Genetics of Metabolic Syndrome–Related Traits

    Genetic Architecture of Plasma Adiponectin Overlaps With the Genetics of Metabolic Syndrome–Related Traits by Peter Henneman, Yurii S. Aulchenko, Rune R. Frants, Irina V. Zorkoltseva, M. Carola Zillikens, Marijke Frölich, Ben A. Oostra, Ko Willems van Dijk, Cornelia M. van Duijn

    Published 2010
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  17. 17
    Transgenic mice carrying the apolipoprotein E3-Leiden gene exhibit hyperlipoproteinemia

    Transgenic mice carrying the apolipoprotein E3-Leiden gene exhibit hyperlipoproteinemia by Arn M. J. M. van den Maagdenberg, Marten H. Hofker, Paul Krimpenfort, Ino de Bruijn, Bas van Vlijmen, Hans van der Boom, Louis M. Havekes, Rune R. Frants

    Published 1993
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  18. 18
    Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p

    Episodic Ataxia Type 2 (EA2) and Spinocerebellar Ataxia Type 6 (SCA6) Due to CAG Repeat Expansion in the CACNA1A Gene on Chromosome 19p by Carla Jodice, Elide Mantuano, Liana Veneziano, Flavia Trettel, G. Sabbadini, L. Calandriello, Ada Francia, M. Spadaro, Francesco Pierelli, Fabrizio Salvi, R.A. Ophoff, Rune R. Frants, Marina Frontali

    Published 1997
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  19. 19
    Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution

    Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution by Richard J.L.F. Lemmers, Patrick J. van der Vliet, Kristiaan J. van der Gaag, Sofia B. Zuniga, Rune R. Frants, Peter de Knijff, Silvère M. van der Maarel

    Published 2010
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  20. 20
    Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura

    Familial hemiplegic migraine locus on 19p13 is involved in the common forms of migraine with and without aura by Arne May, Roel A. Ophoff, Gisela M. Terwindt, Christine Urban, Ronald van Eijk, Joost Haan, H.-C. Diener, Dick Lindhout, Rune R. Frants, Lodewijk A. Sandkuijl, Michel D. Ferrari

    Published 1995
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