检索结果 - Heidi Stöhr

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  1. 1
    Sorsby fundus dystrophy:<i>Insights from the past and looking to the future</i>

    Sorsby fundus dystrophy:<i>Insights from the past and looking to the future</i> 由 Bela Anand‐Apte, Jennifer R. Chao, Ruchira Singh, Heidi Stöhr

    出版 2018
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  2. 2
    Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family

    Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family 由 Heidi Stöhr, Andreas Marquardt, Indrajit Nanda, Michael Schmid, Bernhard H. F. Weber

    出版 2002
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  3. 3
    The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association

    The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association 由 Frank Zach, Felix Graßmann, Thomas Langmann, Nasrin Sorusch, Uwe Wolfrum, Heidi Stöhr

    出版 2012
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  4. 4
    Evolution and functional divergence of the anoctamin family of membrane proteins

    Evolution and functional divergence of the anoctamin family of membrane proteins 由 Vladimir M. Milenkovic, Marisa M. Brockmann, Heidi Stöhr, Bernhard H. F. Weber, Olaf Strauß

    出版 2010
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  5. 5
    Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa

    Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa 由 Nina Zehe-Lindau, Birgit Lindau, Heidi Stöhr, Bernhard H. F. Weber, Georg Spital, Ulrich Kellner

    出版 2025
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  6. 6
    Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

    Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease 由 Fabian A. Garces, Kailun Jiang, Laurie L. Molday, Heidi Stöhr, Bernhard H. F. Weber, Christopher J. Lyons, David Maberley, Robert S. Molday

    出版 2018
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  7. 7
    Reducing <scp>T</scp>imp3 or vitronectin ameliorates disease manifestations in <scp>CADASIL</scp> mice

    Reducing <scp>T</scp>imp3 or vitronectin ameliorates disease manifestations in <scp>CADASIL</scp> mice 由 Carmen Capone, Emmanuel Cognat, Lamia Ghezali, Céline Baron‐Menguy, Déborah Aubin, Laurent Mesnard, Heidi Stöhr, Valérie Domenga‐Denier, Mark T. Nelson, Anne Joutel

    出版 2015
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  8. 8
    TMEM16B, A Novel Protein with Calcium-Dependent Chloride Channel Activity, Associates with a Presynaptic Protein Complex in Photoreceptor Terminals

    TMEM16B, A Novel Protein with Calcium-Dependent Chloride Channel Activity, Associates with a Presynaptic Protein Complex in Photoreceptor Terminals 由 Heidi Stöhr, Julia Heisig, P. Benz, Simon Schöberl, Vladimir M. Milenkovic, Olaf Strauß, Wendy M. Aartsen, Jan Wijnholds, Bernhard H. F. Weber, H.L. Schulz

    出版 2009
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  9. 9
    A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

    A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration 由 Andrea Rivera, Karen L. White, Heidi Stöhr, Klaus Steiner, Nadine Hemmrich, T. Grimm, Bernhard Jurklies, Birgit Lorenz, Hendrik P. N. Scholl, E Apfelstedt-Sylla, Bernhard H. F. Weber

    出版 2000
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  10. 10
    Mutation Spectrum of the <i>ABCA4</i> Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs

    Mutation Spectrum of the <i>ABCA4</i> Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort—Impact of Selected Deep Intronic Variants and Common SNPs 由 H.L. Schulz, Felix Graßmann, Ulrich Kellner, Georg Spital, Klaus Rüther, Herbert Jägle, Karsten Hufendiek, Philipp Rating, Cord Huchzermeyer, Maria J. Baier, Bernhard H. F. Weber, Heidi Stöhr

    出版 2017
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  11. 11
    Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

    Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa 由 Thomas Langmann, Silvio Alessandro Di Gioia, Isabella Rau, Heidi Stöhr, Nela Maksimović, Joseph C. Corbo, Agnes B. Renner, Eberhart Zrenner, Govindasamy Kumaramanickavel, Marcus Karlstetter, Yvan Arsenijévic, Bernhard H. F. Weber, Andreas Gal, Carlo Rivolta

    出版 2010
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  12. 12
    Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study

    Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study 由 Philipp L. Müller, Maximilian Pfau, Philipp T. Möller, Jennifer Nadal, Matthias Schmid, Moritz Lindner, Luís de Sisternes, Heidi Stöhr, Bernhard H. F. Weber, Christine Neuhaus, Philipp Herrmann, Steffen Schmitz-Valckenberg, Frank G. Holz, Monika Fleckenstein

    出版 2018
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  13. 13
    Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease

    Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Di... 由 Iseline Cardon, Sonja Grobecker, Selin Kücükoktay, Stefanie Bader, Tatjana Jahner, Caroline Nothdurfter, Kevin Koschitzki, Mark Berneburg, Bernhard H. F. Weber, Heidi Stöhr, Marcus Höring, Gerhard Liebisch, Frank Braun, Tanja Rothammer-Hampl, Markus J. Riemenschneider, Rainer Rupprecht, Vladimir M. Milenkovic, Christian H. Wetzel

    出版 2024
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  14. 14
    Cost‐effective molecular inversion probe‐based <i>ABCA4</i> sequencing reveals deep‐intronic variants in Stargardt disease

    Cost‐effective molecular inversion probe‐based <i>ABCA4</i> sequencing reveals deep‐intronic variants in Stargardt disease 由 Mubeen Khan, Stéphanie S. Cornelis, Muhammad Imran Khan, Duaa Elmelik, Eline Manders, Sem Bakker, Ronny Derks, Kornelia Neveling, Maartje van de Vorst, Christian Gilissen, Isabelle Meunier, Sabine Defoort, Bernard Puech, Aurore Devos, H.L. Schulz, Heidi Stöhr, Felix Graßmann, Bernhard H. F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers

    出版 2019
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  15. 15
    Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and<i>PEX26</i>mutated in Heimler syndrome

    Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read... 由 Christine Neuhaus, Tobias Eisenberger, Christian Decker, Sandra Nagl, Cornelia Blank, Markus Pfister, Ingo Kennerknecht, Cornelie Müller-Hofstede, Peter Charbel Issa, Raoul Heller, Bodo B. Beck, Klaus Rüther, Diana Mitter, Klaus Rohrschneider, Ute Steinhauer, Heike Korbmacher, Dagmar Huhle, Solaf M. Elsayed, Hesham M. Taha, Shahid Mahmood Baig, Heidi Stöhr, Markus N. Preising, Susanne Markus, Fabian Moeller, Birgit Lorenz, Kerstin Nagel‐Wolfrum, Arif O. Khan, Hanno J. Bolz

    出版 2017
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  16. 16
    Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

    Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides 由 Riccardo Sangermano, Alejandro Garanto, Mubeen Khan, Esmee H. Runhart, Miriam Bauwens, Nathalie M. Bax, L. Ingeborgh van den Born, Muhammad Imran Khan, Stéphanie S. Cornelis, Joanne Verheij, Jan-Willem R. Pott, Alberta A. H. J. Thiadens, Caroline C. W. Klaver, Bernard Puech, Isabelle Meunier, Sarah Naessens, Gavin Arno, Ana Fakin, Keren Carss, F. Lucy Raymond, Andrew R. Webster, Claire‐Marie Dhaenens, Heidi Stöhr, Felix Graßmann, Bernhard H. F. Weber, Carel B. Hoyng, Elfride De Baere, Sílvia Albert, Rob W.J. Collin, Frans P.M. Cremers

    出版 2019
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  17. 17
    Association of Sex With Frequent and Mild <i>ABCA4</i> Alleles in Stargardt Disease

    Association of Sex With Frequent and Mild <i>ABCA4</i> Alleles in Stargardt Disease 由 Esmee H. Runhart, Mubeen Khan, Stéphanie S. Cornelis, Susanne Roosing, Marta Del Pozo‐Valero, Tina M. Lamey, Petra Lišková, Lisa Roberts, Heidi Stöhr, Caroline C. W. Klaver, Carel B. Hoyng, Frans P.M. Cremers, Claire‐Marie Dhaenens, Alaa AlTabishi, Carmen Ayuso, Sandro Banfi, Tamar Ben‐Yosef, L. Ingeborgh van den Born, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru Fujinami, Michael B. Gorin, L Hlavatá, Smaragda Kamakari, Bohdan Kousal, Ian M. MacDonald, Terri L. McLaren, Anna Matynia, Monika Ołdak, Osvaldo L. Podhajcer, Raj Ramesar, John N. De Roach, Dror Sharon, Francesca Simonelli, Francesco Testa, Jennifer A. Thompson, Anna M. Tracewska, Andrea L. Vincent, Bernhard H. F. Weber

    出版 2020
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  18. 18
    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes 由 Rebekkah J. Hitti‐Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire‐Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben‐Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Lišková, Ľubica Ďuďáková, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeiņa, Gita Tauriņa, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P.M. Cremers

    出版 2024
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  19. 19
    Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics

    Resolving the dark matter of <i>ABCA4</i> for 1,054 Stargardt disease probands through integrated genomics and transcriptomics 由 Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTabishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben‐Yosef, Camiel J. F. Boon, L. Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Ľubica Ďuďáková, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru Fujinami, Christian Gilissen, Damjan Glavač, Michael B. Gorin, Jacquie Greenberg, Takaaki Hayashi, Ymkje M. Hettinga, Alexander Hoischen, Carel B. Hoyng, Karsten Hufendiek, Herbert Jägle, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C. W. Klaver, Bohdan Kousal, Tina M. Lamey, Ian M. MacDonald, Anna Matynia, Terri L. McLaren, Marcela Mena, Isabelle Meunier, Rianne Miller, Hadas Newman, Buhle Ntozini, Monika Ołdak, Marc Pieterse, Osvaldo L. Podhajcer, Bernard Puech, Raj Ramesar, Klaus Rüther, Manar Salameh, Mariana Vallim Salles, Dror Sharon, Francesca Simonelli, Georg Spital, Marloes Steehouwer, Jacek P. Szaflik, Jennifer A. Thompson, C. Thuillier, Anna M. Tracewska, Martine van Zweeden, Andrea L. Vincent, Xavier Zanlonghi, Petra Lišková, Heidi Stöhr, John N. De Roach, Carmen Ayuso, Lisa Roberts, Bernhard H. F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers

    出版 2019
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  20. 20
    Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

    Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics 由 Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, Laura Whelan, Esmee H. Runhart, Ketan Mishra, Femke Bults, Yahya AlSwaiti, Alaa AlTalbishi, Elfride De Baere, Sandro Banfi, Eyal Banin, Miriam Bauwens, Tamar Ben‐Yosef, Camiel J. F. Boon, L. Ingeborgh van den Born, Sabine Defoort, Aurore Devos, Adrian Dockery, Ľubica Ďuďáková, Ana Fakin, G. Jane Farrar, Juliana Maria Ferraz Sallum, Kaoru Fujinami, Christian Gilissen, Damjan Glavač, Michael B. Gorin, Jacquie Greenberg, Takaaki Hayashi, Ymkje M. Hettinga, Alexander Hoischen, Carel B. Hoyng, Karsten Hufendiek, Herbert Jägle, Smaragda Kamakari, Marianthi Karali, Ulrich Kellner, Caroline C. W. Klaver, Bohdan Kousal, Tina M. Lamey, Ian M. MacDonald, Anna Matynia, Terri L. McLaren, Marcela Mena, Isabelle Meunier, Rianne Miller, Hadas Newman, Buhle Ntozini, Monika Ołdak, Marc Pieterse, Osvaldo L. Podhajcer, Bernard Puech, Raj Ramesar, Klaus Rüther, Manar Salameh, Mariana Vallim Salles, Dror Sharon, Francesca Simonelli, Georg Spital, Marloes Steehouwer, Jacek P. Szaflik, Jennifer A. Thompson, C. Thuillier, Anna M. Tracewska, Martine van Zweeden, Andrea L. Vincent, Xavier Zanlonghi, Petra Lišková, Heidi Stöhr, John N. De Roach, Carmen Ayuso, Lisa Roberts, Bernhard H. F. Weber, Claire‐Marie Dhaenens, Frans P.M. Cremers

    出版 2020
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