Risultati della ricerca - Denise Horn

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  1. 1
    Walking the Interactome for Prioritization of Candidate Disease Genes

    Walking the Interactome for Prioritization of Candidate Disease Genes di Sebastian Köhler, Sebastian Bauer, Denise Horn, Peter N. Robinson

    Pubblicazione 2008
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  2. 2
    Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity

    Cohen Syndrome-associated Protein, COH1, Is a Novel, Giant Golgi Matrix Protein Required for Golgi Integrity di Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, Denise Horn, Volker Haucke, Hans Christian Hennies

    Pubblicazione 2011
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  3. 3
    Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4

    Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4 di Pablo Villavicencio‐Lorini, Eva Klopocki, Marc Trimborn, Randi Koll, Stefan Mundlos, Denise Horn

    Pubblicazione 2012
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  4. 4
    The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

    The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease di Peter N. Robinson, Sebastian Köhler, Sebastian Bauer, Dominik Seelow, Denise Horn, Stefan Mundlos

    Pubblicazione 2008
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  5. 5
    Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion

    Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion di Dagmar Wieczorek, Mario Krause, Frank Majewski, Beate Albrecht, Denise Horn, Olaf Rieß, Gabriele Gillessen‐Kaesbach

    Pubblicazione 2000
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  6. 6
    Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth

    Cohen Syndrome-associated Protein COH1 Physically and Functionally Interacts with the Small GTPase RAB6 at the Golgi Complex and Directs Neurite Outgrowth di Wenke Seifert, Jirko Kühnisch, Tanja Maritzen, Stefanie Lommatzsch, Hans Christian Hennies, Sebastian Bachmann, Denise Horn, Volker Haucke

    Pubblicazione 2014
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  7. 7
    Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome

    Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome di Vanessa A. van Rahden, Erika Fernández‐Vizarra, Malik Alawi, K. Gerhard Brand, Florence Fellmann, Denise Horn, Massimo Zeviani, Kerstin Kutsche

    Pubblicazione 2015
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  8. 8
    Combining callers improves the detection of copy number variants from whole-genome sequencing

    Combining callers improves the detection of copy number variants from whole-genome sequencing di Marie Coutelier, Manuel Holtgrewe, Marten Jäger, Ricarda Flöttman, Martin A. Mensah, Malte Spielmann, Peter Krawitz, Denise Horn, Dieter Beule, Stefan Mundlos

    Pubblicazione 2021
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  9. 9
    Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

    Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies di Sebastian Köhler, Marcel H. Schulz, Peter Krawitz, Sebastian Bauer, Sandra Dölken, Claus‐Eric Ott, Christine Mundlos, Denise Horn, Stefan Mundlos, Peter N. Robinson

    Pubblicazione 2009
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  10. 10
    PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

    PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome di Peter Krawitz, Yoshiko Murakami, Angelika Rieß, Marja Hietala, Ulrike Krüger, Na Zhu, Taroh Kinoshita, Stefan Mundlos, Jochen Hecht, Peter N. Robinson, Denise Horn

    Pubblicazione 2013
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  11. 11
    Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young

    Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young di Klemens Raile, Eva Klopocki, Martin Holder, Theda Wessel, Angela Galler, Dorothee Deiss, Dominik Müller, T Riebel, Denise Horn, Monika Maringa, Jürgen Weber, Reinhard Ullmann, Annette Grüters

    Pubblicazione 2009
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  12. 12
    Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

    Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies di Alexej Knaus, Fanny Kortüm, Tjitske Kleefstra, Asbjørg Stray‐Pedersen, Dejan Đukić, Yoshiko Murakami, Thorsten Gerstner, Hans van Bokhoven, Zafar Iqbal, Denise Horn, Taroh Kinoshita, Maja Hempel, Peter Krawitz

    Pubblicazione 2019
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  13. 13
    Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

    Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator di Christian T. Thiel, Denise Horn, Bernhard Zabel, Arif B. Ekici, Kelly Salinas, Erich Gebhart, Franz Rüschendorf, Heinrich Sticht, J. Spranger, Dietmar Müller, Christiane Zweier, Mark E. Schmitt, André Reis, Anita Rauch

    Pubblicazione 2005
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  14. 14
    Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion

    Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion di Kimberly A. Aldinger, Jillene Kogan, Virginia Kimonis, Bridget A. Fernandez, Denise Horn, Eva Klopocki, Brian Hon‐Yin Chung, Annick Toutain, Rosanna Weksberg, Kathleen J. Millen, A. James Barkovich, William B. Dobyns

    Pubblicazione 2012
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  15. 15
    Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

    Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome di Mateusz Kolanczyk, Peter Krawitz, Jochen Hecht, Anna Hupalowska, Marta Miączyńska, Katrin Marschner, Claire Schlack, Denise Emmerich, Karolina Kobus, Uwe Kornak, Peter N. Robinson, Barbara Plecko, Gernot Grangl, Sabine Uhrig, Stefan Mundlos, Denise Horn

    Pubblicazione 2014
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  16. 16
    Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

    Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations di Katrina Tatton‐Brown, Jenny Douglas, Kim Coleman, Geneviève Baujat, Trevor Cole, Soma Das, Denise Horn, Helen E. Hughes, I. Karen Temple, Francesca Faravelli, Darrel Waggoner, Seval Türkmen, Valérie Cormier‐Daire, Alexandre Irrthum, Nazneen Rahman

    Pubblicazione 2005
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  17. 17
    The face of Noonan syndrome: Does phenotype predict genotype

    The face of Noonan syndrome: Does phenotype predict genotype di Judith Allanson, Axel Bohring, Helmuth‐Guenther Dörr, Andreas Dufke, G Gillessen‐Kaesbach, Denise Horn, Rainer König, Christian P. Kratz, Kerstin Kutsche, Silke Pauli, Salmo Raskin, Anita Rauch, Anne‐Marie W. Turner, Dagmar Wieczorek, Martin Zenker

    Pubblicazione 2010
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  18. 18
    Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

    Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation di Peter Krawitz, Yoshiko Murakami, Jochen Hecht, Ulrike Krüger, Susan Holder, Geert Mortier, Barbara Delle Chiaie, Elfride De Baere, Miles D. Thompson, Tony Roscioli, Szymon M. Kiełbasa, Taroh Kinoshita, Stefan Mundlos, Peter N. Robinson, Denise Horn

    Pubblicazione 2012
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  19. 19
    Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome

    Allelic Heterogeneity in the COH1 Gene Explains Clinical Variabilityin Cohen Syndrome di Hans Christian Hennies, Anita Rauch, Wenke Seifert, Christian Schumi, Elisabeth Moser, Eva Al-Taji, Gholamali Tariverdian, Krystyńa Chrzańowska, Małgorzata Krajewska‐Walasek, Anna Rajab, Roberto Giugliani, Thomas Neumann, Katja‐Martina Eckl, Mohsen Karbasiyan, André Reis, Denise Horn

    Pubblicazione 2004
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  20. 20
    Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations

    Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations di Martin Zenker, Katarina Lehmann, AL Schulz, Heidi Barth, D. Hansmann, Rainer Koenig, Rudolf Korinthenberg, Martina Kreiß‐Nachtsheim, Peter Meinecke, Susanne Morlot, Stefan Mundlos, Anne S. Quante, Salmo Raskin, Dirk Schnabel, Lore Wehner, Christian P. Kratz, Denise Horn, Kerstin Kutsche

    Pubblicazione 2006
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