Resultats de la cerca - Geert Mortier

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  1. 1
    Voice-Related Quality of Life in Adults With Neurofibromatosis Type 1

    Voice-Related Quality of Life in Adults With Neurofibromatosis Type 1 per Marjan Cosyns, Geert Mortier, Sandra Janssens, John Van Borsel

    Publicat 2011
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  2. 2
    WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders

    WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders per Yentl Huybrechts, Geert Mortier, Eveline Boudin, Wim Van Hul

    Publicat 2020
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  3. 3
    Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum

    Type and Level of RMRP Functional Impairment Predicts Phenotype in the Cartilage Hair Hypoplasia–Anauxetic Dysplasia Spectrum per Christian T. Thiel, Geert Mortier, Ilkka Kaitila, André Reis, Anita Rauch

    Publicat 2007
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  4. 4
    qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data.

    qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data. per Jan Hellemans, Geert Mortier, Anne De Paepe, Frank Speleman, Jo Vandesompele

    Publicat 2007
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  5. 5
    Objective assessment of nasality in flemish adults with neurofibromatosis type 1

    Objective assessment of nasality in flemish adults with neurofibromatosis type 1 per Marjan Cosyns, Geert Mortier, Sandra Janssens, Kathleen Claes, John Van Borsel

    Publicat 2011
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  6. 6
    The annual incidence of DiGeorge/velocardiofacial syndrome.

    The annual incidence of DiGeorge/velocardiofacial syndrome. per Koenraad Devriendt, J. P. Fryns, Geert Mortier, M N van Thienen, Kathelijn Keymolen

    Publicat 1998
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  7. 7
    Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips

    Homozygous Mutations in IHH Cause Acrocapitofemoral Dysplasia, an Autosomal Recessive Disorder with Cone-Shaped Epiphyses in Hands and Hips per Jan Hellemans, Paul Coucke, A Giedion, Anne De Paepe, Peter Krämer, Frits A. Beemer, Geert Mortier

    Publicat 2003
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  8. 8
    Disfluency: it is not always stuttering

    Disfluency: it is not always stuttering per Marc Cosyns, Yvonne van Zaalen, Geert Mortier, Sandra Janssens, Annelies Amez, Jonas Van Damme, John Van Borsel

    Publicat 2013
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  9. 9
    Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders

    Minimum prevalence, birth incidence and cause of death for Prader–Willi syndrome in Flanders per Annick Vogels, Jenneke van den Ende, Kathelijn Keymolen, Geert Mortier, Koenraad Devriendt, Eric Legius, J P Fryns

    Publicat 2003
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  10. 10
    Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

    Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation per Andy Willaert, Fransiska Malfait, Sofie Symoens, Kris Gevaert, Hülya Kayserili, André Mégarbané, Geert Mortier, JG Leroy, Paul Coucke, Anne De Paepe

    Publicat 2008
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  11. 11
    A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone

    A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone per Igor Fijałkowski, Ellen Geets, Ellen Steenackers, Viviane Van Hoof, Feliciano J. Ramos, Geert Mortier, Ana María Fortuna, Wim Van Hul, Eveline Boudin

    Publicat 2016
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  12. 12
    The homozygous variant c.797G&gt;A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function

    The homozygous variant c.797G&gt;A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function per Katta M. Girisha, Leonie von Elsner, Neethukrishna Kausthubham, Mamta Muranjan, Anju Shukla, Gandham SriLakshmi Bhavani, Gen Nishimura, Kerstin Kutsche, Geert Mortier

    Publicat 2018
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  13. 13
    XYLT1 Mutations in Desbuquois Dysplasia Type 2

    XYLT1 Mutations in Desbuquois Dysplasia Type 2 per Catherine Bui, Céline Huber, Beyhan Tüysüz, Yasemin Alanay, Christine Bôle‐Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschké, Arnold Münnich, Valérie Cormier‐Daire

    Publicat 2014
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  14. 14
    Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

    Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome per Fransiska Malfait, Sofie Symoens, Nathalie Goemans, Yolanda Gyftodimou, Eva Holmberg, Vanesa López‐González, Geert Mortier, Sheela Nampoothiri, Michael B. Petersen, Anne De Paepe

    Publicat 2013
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  15. 15
    TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA

    TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, andin vitro rescue by U1 snRNA per S. P. Lucia, Alessandra Pangrazio, Cristina Sobacchi, Anna Taranta, Geert Mortier, Ravi Savarirayan, Anna Villa, Paul J. Orchard, Paolo Vezzoni, Alberto Albertini, Annalisa Frattini, Franco Pagani

    Publicat 2004
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  16. 16
    Familial hypertryptasemia with associated mast cell activation syndrome

    Familial hypertryptasemia with associated mast cell activation syndrome per Vito Sabato, Els Van de Vijver, Margo M. Hagendorens, Inge Vrelust, Edwin Reyniers, Erik Fransén, Chris H. Bridts, Luc S. De Clerck, Geert Mortier, Peter Valent, Didier G. Ebo

    Publicat 2014
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  17. 17
    ComprehensiveNF1 screening on cultured Schwann cells from neurofibromas

    ComprehensiveNF1 screening on cultured Schwann cells from neurofibromas per Ophélia Maertens, Hilde Brems, Jo Vandesompele, Thomas De Raedt, Ine Heyns, Thorsten Rosenbaum, Sofie De Schepper, Anne De Paepe, Geert Mortier, Sandra Janssens, Frank Speleman, Eric Legius, Ludwine Messiaen

    Publicat 2006
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  18. 18
    Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1

    Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1 per Timon Vandamme, Marc Peeters, Fadime Dogan, Patrick Pauwels, Elvire Van Assche, Matthias Beyens, Geert Mortier, Geert Vandeweyer, Wouter W. de Herder, Guy Van Camp, Leo J. Hofland, Ken Op de Beeck

    Publicat 2015
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  19. 19
    Long-term acquired everolimus resistance in pancreatic neuroendocrine tumours can be overcome with novel PI3K-AKT-mTOR inhibitors

    Long-term acquired everolimus resistance in pancreatic neuroendocrine tumours can be overcome with novel PI3K-AKT-mTOR inhibitors per Timon Vandamme, Matthias Beyens, Ken Op de Beeck, Fadime Dogan, Peter M. van Koetsveld, Patrick Pauwels, Geert Mortier, Christel Vangestel, Wouter W. de Herder, Guy Van Camp, Marc Peeters, Leo J. Hofland

    Publicat 2016
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  20. 20
    The first European consensus on principles of management for achondroplasia

    The first European consensus on principles of management for achondroplasia per Valérie Cormier‐Daire, Moeenaldeen AlSayed, Tawfeg Ben‐Omran, Sérgio B. Sousa, Silvio Boero, Svein O. Fredwall, Encarna Guillén‐Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Geert Mortier, Zagorka Peijin, Klaus Mohnike

    Publicat 2021
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