Resultados da busca - Karen Brøndum‐Nielsen

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  1. 1
    Chromosome Abnormalities and Genetic Counselling

    Chromosome Abnormalities and Genetic Counselling por Karen Brøndum‐Nielsen

    Publicado em 2004
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  2. 2
    5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation.

    5-Fluoro-2'-deoxyuridine induction of the fragile site on Xq28 associated with X linked mental retardation. por Niels Tommerup, Hanne Poulsen, Karen Brøndum‐Nielsen

    Publicado em 1981
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  3. 3
    Oculocutaneous albinism

    Oculocutaneous albinism por Karen Grønskov, Jakob Ek, Karen Brøndum‐Nielsen

    Publicado em 2007
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  4. 4
    Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype

    Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype por Karen Grønskov, Thomas Rosenberg, Annie Sand, Karen Brøndum‐Nielsen

    Publicado em 1999
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  5. 5
    A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

    A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1 por Karen Grønskov, Cathrine Jespersgaard, Gitte Hoffmann Bruun, Pernille Harris, Karen Brøndum‐Nielsen, Brage Storstein Andresen, Thomas Rosenberg

    Publicado em 2019
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  6. 6
    Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes

    Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes por Tina Duelund Hjortshøj, Karen Grønskov, Alisdair R. Philp, Darryl Nishimura, Ruth Riise, Val C. Sheffield, Thomas Rosenberg, Karen Brøndum‐Nielsen

    Publicado em 2010
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  7. 7
    High carrier frequency of the 35delG deafness mutation in European populations

    High carrier frequency of the 35delG deafness mutation in European populations por Paolo Gasparini, Raquel Rabionet, Guido Barbujani, Salvatore Melchionda, M B Petersen, Karen Brøndum‐Nielsen, Andres Metspalu, Eneli Oitmaa, Marina Pisano, Paolo Fortina, L. Zelante, Xavier Estivill

    Publicado em 2000
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  8. 8
    Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome

    Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome por Birgitte Bertelsen, Linea Melchior, Lars R. Jensen, Camilla Groth, Birte Glenthøj, Renata Rizzo, Nanette Mol Debes, Liselotte Skov, Karen Brøndum‐Nielsen, Peristera Paschou, Asli Silahtaroglu, Zeynep Tümer

    Publicado em 2014
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  9. 9
    Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1

    Delineation of the Critical Deletion Region for Congenital Heart Defects, on Chromosome 8p23.1 por Koenraad Devriendt, Gert Matthijs, Roeland Van Dael, Marc Gewillig, Bénédicte Eyskens, Helle Hjalgrim, Brigitte Dolmer, Julie McGaughran, Karen Brøndum‐Nielsen, Peter Marynen, Jean‐Pierre Fryns, Joris Vermeesch

    Publicado em 1999
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  10. 10
    Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

    Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy por Cathrine Jespersgaard, Mingyan Fang, Mette Bertelsen, Xiao Dang, Hanne Jensen, Yulan Chen, Niels Bech, Lanlan Dai, Thomas Rosenberg, Jianguo Zhang, Lisbeth Birk Møller, Zeynep Tümer, Karen Brøndum‐Nielsen, Karen Grønskov

    Publicado em 2019
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  11. 11
    Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders

    Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders por Mette Gilling, Hanne B. Rasmussen, Kirstine Calløe, Ana Filipa Sequeira, Marta Baretto, Guiomar Oliveira, Joana Almeida, Marlene Briciet Lauritsen, Reinhard Ullmann, Susanne E. Boonen, Karen Brøndum‐Nielsen, Vera M. Kalscheuer, Zeynep Tümer, Astrid M. Vicente, Nicole Schmitt, Niels Tommerup

    Publicado em 2013
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  12. 12
    Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

    Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles por Sarah L. Nolin, W. Ted Brown, Anne Glicksman, George E. Houck, Alice D. Gargano, Amy K. Sullivan, Valérie Biancalana, Karen Brøndum‐Nielsen, Helle Hjalgrim, Elke Holinski‐Feder, R. Frank Kooy, John Longshore, James Macpherson, Jean‐Louis Mandel, Gert Matthijs, François Rousseau, Peter Steinbach, Marja‐Leena Väisänen, Harriet von Koskull, Stephanie L. Sherman

    Publicado em 2003
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  13. 13
    Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

    Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. por A K Ryan, Judith A. Goodship, David I. Wilson, N. Philip, A. Lévy, H. Seidel, Simone Schuffenhauer, H Oechsler, B. H. Belohradsky, M Prieur, Alain Aurias, F. Lucy Raymond, Jill Clayton‐Smith, Eli Hatchwell, C McKeown, F. A. Beemer, Bruno Dallapiccola, Giuseppe Novelli, J A Hurst, Jaakko Ignatius, Andrew Green, R M Winter, L A Brueton, Karen Brøndum‐Nielsen, Peter Scambler

    Publicado em 1997
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  14. 14
    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

    Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes por Christina Halgren, Nete Munk Nielsen, Lusine Nazaryan‐Petersen, Asli Silahtaroglu, Ryan L. Collins, Chelsea Lowther, Susanne Kjærgaard, Morten Frisch, Maria Kirchhoff, Karen Brøndum‐Nielsen, Allan Lind-Thomsen, Yuan Mang, Zahra El-Schich, Claire A. Boring, Mana M. Mehrjouy, Peter K.A. Jensen, Christina Fagerberg, Lotte Krogh, Jan Hansen, Thue Bryndorf, Claus Hansen, Michael E. Talkowski, Mads Bak, Niels Tommerup, Iben Bache

    Publicado em 2018
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  15. 15
    Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

    Mutation screening and association analysis of six candidate genes for autism on chromosome 7q por Elena Bonora, Janine A. Lamb, Gabrielle Barnby, Nuala Sykes, Thomas Moberly, Kim S. Beyer, Sabine M. Klauck, F. Poustka, Elena Bacchelli, Francesca Blasi, Elena Maestrini, Agatino Battaglia, Demetrios Haracopos, Lennart Pedersen, Torben Isager, Gunna Eriksen, Birgitte Viskum, Ester-Ulsted Sorensen, Karen Brøndum‐Nielsen, R. M. J. Cotterill, Herman von Engeland, Maretha Jonge, Chantal Kemner, Karlijn Steggehuis, Margret Scherpenisse, Michael Rutter, Patrick Bolton, Jeremy Parr, Annemarie Poustka, Anthony Bailey, Anthony P. Monaco

    Publicado em 2004
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  16. 16
    Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort

    Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort por Birgitte Bertelsen, Hreinn Stefánsson, Lars R. Jensen, Linea Melchior, Nanette Mol Debes, Camilla Groth, Liselotte Skov, Thomas Werge, Iordanis Karagiannidis, Zsanett Tárnok, Csaba Barta, Péter Nagy, Luca Farkas, Karen Brøndum‐Nielsen, Renata Rizzo, Mariangela Gulisano, Dan Rujescu, Lambertus A. Kiemeney, Sarah Tosato, Muhammad Sulaman Nawaz, Andrés Ingason, Unnur Unnsteinsdóttir, Stacy Steinberg, Pétur Lúðvígsson, Kāri Stefánsson, Andreas W. Kuß, Peristera Paschou, Daniëlle C. Cath, Pieter J. Hoekstra, Kirsten Müller‐Vahl, Manfred Stuhrmann, Asli Silahtaroglu, Rolph Pfundt, Zeynep Tümer

    Publicado em 2015
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  17. 17
    A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium

    A full genome screen for autism with evidence for linkage to a region on chromosome 7q. International Molecular Genetic Study of Autism Consortium por Anthony Bailey, Amaia Hervás, Nicola Matthews, Sarah Palferman, Simon Wallace, Anne Aubin, Janine Michelotti, Catherine Wainhouse, Katerina Papanikolaou, Michael Rutter, Elena Maestrini, Angela J. Marlow, Daniel E. Weeks, Janine A. Lamb, Clyde Francks, Georgina Kearsley, P Scudder, Anthony P. Monaco, Gillian Baird, Anthony D. Cox, Helen Cockerill, Fleming Nuffield, Ann Le Couteur, T. P. Berney, Hayley Cooper, Tom Kelly, Jonathan Green, Jane Whittaker, Anne Gilchrist, Patrick Bolton, Anne Schönewald, M. G. Daker, Caroline Mackie Ogilvie, Zoe Docherty, Zandra C. Deans, Bryan J. Bolton, Ros Packer, Fritz Poustka, D. Rühl, Gabriele Schmötzer, Sven Bölte, Sabine M. Klauck, Anja Spieler, Annemarie Poustka, Hermán van Engeland, Chantal Kemner, Maretha Jonge, Ineke Den Hartog, Catherine Lord, Edwin H. Cook, Bennett Leventhal, Fred R. Volkmar, David L. Pauls, Ami Klin, Susan L. Smalley, Éric Fombonne, Bernadette Rogé, M. Tauber, Evelyne Arti-Vartayan, Jeanne Fremolle-Kruck., Lennart Pederson, Demetrious Haracopos, Karen Brøndum‐Nielsen, R. M. J. Cotterill

    Publicado em 1998
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