نتائج البحث - Kerstin Kutsche

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  1. 1
    The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody

    The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody حسب Isabel Martínez‐Garay, Amin Rustom, Hans‐Hermann Gerdes, Kerstin Kutsche

    منشور في 2006
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  2. 2
    An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome

    An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome حسب Hengameh Abdollahpour, Malik Alawi, Fanny Kortüm, Michael Beckstette, E Seemanová, Vladimı́r Komárek, Georg Rosenberger, Kerstin Kutsche

    منشور في 2014
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  3. 3
    Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

    Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder حسب Frederike L. Harms, Katja Kloth, Annette Bley, Jonas Denecke, René Santer, Davor Lessel, Maja Hempel, Kerstin Kutsche

    منشور في 2018
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  4. 4
    Dermatoscopic aspects of the Microphthalmia with Linear Skin Defects (MLS) Syndrome

    Dermatoscopic aspects of the Microphthalmia with Linear Skin Defects (MLS) Syndrome حسب Hiram Larangeira de Almeida, Gabriela Rossi, Luciana Boff de Abreu, Cristina Bergamaschi, Alessandra Banaszeski da Silva, Kerstin Kutsche

    منشور في 2014
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  5. 5
    Evaluating the quality of Marfan genotype–phenotype correlations in existing FBN1 databases

    Evaluating the quality of Marfan genotype–phenotype correlations in existing FBN1 databases حسب Kristian A. Groth, Yskert Von Kodolitsch, Kerstin Kutsche, Mette Gaustadnes, Kasper Thorsen, N.H. Andersen, Claus Højbjerg Gravholt

    منشور في 2016
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  6. 6
    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 حسب Vanessa A. van Rahden, Erika Fernández‐Vizarra, Malik Alawi, K. Gerhard Brand, Florence Fellmann, Denise Horn, Massimo Zeviani, Kerstin Kutsche

    منشور في 2015
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  7. 7
    Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome

    Mutations of the Mitochondrial Holocytochrome c–Type Synthase in X-Linked Dominant Microphthalmia with Linear Skin Defects Syndrome حسب Isabella Wimplinger, Manuela Morleo, Georg Rosenberger, Daniela Iaconis, Ulrike Orth, Peter Meinecke, Israela Lerer, Andrea Ballabio, Andreas Gal, Brunella Franco, Kerstin Kutsche

    منشور في 2006
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  8. 8
    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 حسب Katta M. Girisha, Leonie von Elsner, Neethukrishna Kausthubham, Mamta Muranjan, Anju Shukla, Gandham SriLakshmi Bhavani, Gen Nishimura, Kerstin Kutsche, Geert Mortier

    منشور في 2018
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  9. 9
    Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome

    Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome حسب Christiane K. Bauer, Pauline E. Schneeberger, Fanny Kortüm, Janine Altmüller, Fernando Santos‐Simarro, Laura Baker, Jennifer Keller‐Ramey, Susan M. White, Philippe M. Campeau, Karen W. Gripp, Kerstin Kutsche

    منشور في 2019
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  10. 10
    Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

    Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease حسب Alessia Indrieri, Vanessa A. van Rahden, Valeria Tiranti, Manuela Morleo, Daniela Iaconis, Roberta Tammaro, Ilaria D’Amato, Iván Conte, Isabelle Maystadt, Stephanie Demuth, Alex Zvulunov, Kerstin Kutsche, Massimo Zeviani, Brunella Franco

    منشور في 2012
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  11. 11
    Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition

    Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities – Support for the role of K(ATP) channels in this condition حسب Catherine A. Brownstein, Meghan C. Towne, Lovelace J. Luquette, D. James Harris, Nicholas S. Marinakis, Peter Meinecke, Kerstin Kutsche, Philippe M. Campeau, Timothy W. Yu, David Margulies, Pankaj B. Agrawal, Alan H. Beggs

    منشور في 2013
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  12. 12
    Biallelic <i>CACNA2D1</i> loss-of-function variants cause early-onset developmental epileptic encephalopathy

    Biallelic <i>CACNA2D1</i> loss-of-function variants cause early-onset developmental epileptic encephalopathy حسب Shehrazade Dahimène, Leonie von Elsner, Tess Holling, Lauren Mattas, Jess Pickard, Davor Lessel, Kjara S. Pilch, Ivan Kadurin, Wendy S. Pratt, Igor B. Zhulin, Hongzheng Dai, Maja Hempel, Maura Ruzhnikov, Kerstin Kutsche, Annette Dolphin

    منشور في 2022
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  13. 13
    Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

    Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome حسب Vanessa A. van Rahden, Isabella Rau, Sigrid Fuchs, Friederike Katharina Kosyna, Hiram Larangeira de Almeida, Helen Fryssira, Bertrand Isidor, Anna Jauch, Madeleine Joubert, Augusta M.A. Lachmeijer, Christiane Zweier, Ute Moog, Kerstin Kutsche

    منشور في 2014
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  14. 14
    The face of Noonan syndrome: Does phenotype predict genotype

    The face of Noonan syndrome: Does phenotype predict genotype حسب 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

    منشور في 2010
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  15. 15
    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 حسب 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

    منشور في 2006
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  16. 16
    The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

    The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis حسب Fanny Kortüm, Soma Das, M. Flindt, Deborah J. Morris‐Rosendahl, Iliyana Stefanova, Amy Goldstein, Denise Horn, Eva Klopocki, Gerhard Kluger, Peter Martin, Anita Rauch, A. Roumer, Sulagna C. Saitta, Laurence E. Walsh, Dagmar Wieczorek, Gökhan Uyanık, Kerstin Kutsche, William B. Dobyns

    منشور في 2011
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  17. 17
    Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits

    Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits... حسب G.J.A. Ramakers, David P Wolfer, Georg Rosenberger, Kerstin Kuchenbecker, Hans‐Jürgen Kreienkamp, Janine Prange‐Kiel, Gabriele M. Rune, Karin Richter, Kristina Langnaese, Sophie Masneuf, Michael R. Bösl, Klaus-Dieter Fischer, Harm J. Krugers, Hans-Peter Lipp, Elly van Galen, Kerstin Kutsche

    منشور في 2011
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  18. 18
    A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy

    A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy حسب Juliette Piard, George K. E. Umanah, Frederike L. Harms, Leire Abalde-Atristain, Daniel Amram, Melissa Chang, Rong Chen, Malik Alawi, Vincenzo Salpietro, Mark I. Rees, Seo‐Kyung Chung, Henry Houlden, Alain Verloès, Ted M. Dawson, Valina L. Dawson, Lionel Van Maldergem, Kerstin Kutsche

    منشور في 2017
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  19. 19
    Phenotypic and molecular insights into CASK-related disorders in males

    Phenotypic and molecular insights into CASK-related disorders in males حسب Ute Moog, Tatjana Bierhals, K. Gerhard Brand, Jan Bautsch, Saskia Biskup, Thomas Brune, Jonas Denecke, C E de Die-Smulders, Christina Evers, Maja Hempel, Marco Henneke, Helger G. Yntema, Björn Menten, Joachim Pietz, Rolph Pfundt, Jörg Schmidtke, Doris Steinemann, Constance T. R. M. Stumpel, Lionel Van Maldergem, Kerstin Kutsche

    منشور في 2015
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  20. 20
    Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

    Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies حسب Karen W. Gripp, Sarah Smithson, Ingrid Scurr, Júlia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B. Henderson, Ingrid M. Wentzensen, Heather M. McLaughlin, Lisette Leeuwen, Marleen Simon, Ellen van Binsbergen, Mary Beth Dinulos, Julie Kaplan, Anne McRae, Andrea Superti‐Furga, Jean‐Marc Good, Kerstin Kutsche

    منشور في 2021
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