Search Results - Riess, Olaf

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  1. 1
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    Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3 by Elter, Tim (Author) , Sturm, Daniel (Author) , Santana, Magda M. (Author) , Schaprian, Tamara (Author) , Raposo, Mafalda (Author) , Melo, Ana Rosa Vieira (Author) , Lima, Manuela (Author) , Koyak, Berkan (Author) , Oender, Demet (Author) , Grobe-Einsler, Marcus (Author) , Lopes, Sara (Author) , Silva, Patrick (Author) , de Almeida, Luís Pereira (Author) , Giunti, Paola (Author) , Garcia-Moreno, Hector (Author) , Nethisinhe, Suran (Author) , de Vries, Jeroen (Author) , van de Warrenburg, Bart P. (Author) , van Gaalen, Judith (Author) , Synofzik, Matthis (Author) , Schöls, Ludger (Author) , Reetz, Kathrin (Author) , Erdlenbruch, Friedrich (Author) , Jacobi, Heike (Author) , Infante, Jon (Author) , Rieß, Olaf (Author) , Klockgether, Thomas (Author) , Timmann, Dagmar (Author) , Thieme, Andreas (Author) , Faber, Jennifer (Author) , Hübener-Schmid, Jeannette (Author) ,


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  2. 2
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    Stage-dependent biomarker changes in spinocerebellar ataxia type 3 by Faber, Jennifer (Author) , Berger, Moritz (Author) , Wilke, Carlo (Author) , Hubener-Schmid, Jeannette (Author) , Schaprian, Tamara (Author) , Santana, Magda M. (Author) , Grobe-Einsler, Marcus (Author) , Onder, Demet (Author) , Koyak, Berkan (Author) , Giunti, Paola (Author) , Garcia-Moreno, Hector (Author) , Gonzalez-Robles, Cristina (Author) , Lima, Manuela (Author) , Raposo, Mafalda (Author) , Melo, Ana Rosa Vieira (Author) , de Almeida, Luis Pereira (Author) , Silva, Patrick (Author) , Pinto, Maria M. (Author) , van de Warrenburg, Bart P. (Author) , van Gaalen, Judith (Author) , de Vries, Jeroen (Author) , Oz, Gulin (Author) , Joers, James M. (Author) , Synofzik, Matthis (Author) , Schols, Ludger (Author) , Riess, Olaf (Author) , Infante, Jon (Author) , Manrique, Leire (Author) , Timmann, Dagmar (Author) , Thieme, Andreas (Author) , Jacobi, Heike (Author) , Reetz, Kathrin (Author) , Dogan, Imis (Author) , Onyike, Chiadikaobi (Author) , Povazan, Michal (Author) , Schmahmann, Jeremy (Author) , Ratai, Eva-Maria (Author) , Schmid, Matthias (Author) , Klockgether, Thomas (Author) ,


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  3. 3
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    Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy by Park, Joohyun (Author) , Tucci, Arianna (Author) , Cipriani, Valentina (Author) , Demidov, German (Author) , Rocca, Clarissa (Author) , Senderek, Jan (Author) , Butryn, Michaela (Author) , Velic, Ana (Author) , Lam, Tanya (Author) , Galanaki, Evangelia (Author) , Cali, Elisa (Author) , Vestito, Letizia (Author) , Maroofian, Reza (Author) , Deininger, Natalie (Author) , Rautenberg, Maren (Author) , Admard, Jakob (Author) , Hahn, Gesa-Astrid (Author) , Bartels, Claudius (Author) , Os, Nienke J. H. van (Author) , Horvath, Rita (Author) , Chinnery, Patrick F. (Author) , Tiet, May Yung (Author) , Hewamadduma, Channa (Author) , Hadjivassiliou, Marios (Author) , Tofaris, George K. (Author) , Wood, Nicholas (Author) , Hayer, Stefanie Nicole (Author) , Bender, Friedemann (Author) , Menden, Benita (Author) , Cordts, Isabell (Author) , Klein, Katrin (Author) , Nguyen, Huu Phuc (Author) , Krauss, Joachim K. (Author) , Blahak, Christian (Author) , Strom, Tim M. (Author) , Sturm, Marc (Author) , Warrenburg, Bart Petrus Christoffel van de (Author) , Lerche, Holger (Author) , Maček, Boris (Author) , Synofzik, Matthis (Author) , Ossowski, Stephan (Author) , Timmann-Braun, Dagmar (Author) , Wolf, Marc (Author) , Smedley, Damian (Author) , Rieß, Olaf (Author) , Schöls, Ludger (Author) , Houlden, Henry (Author) , Haack, Tobias (Author) , Hengel, Holger (Author) ,


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  4. 4
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    Host genetic loci LZTFL1 and CCL2 associated with SARS-CoV-2 infection and severity of COVID-19 by Rüter, Jule (Author) , Pallerla, Srinivas Reddy (Author) , Meyer, Christian G. (Author) , Casadei, Nicolas (Author) , Sonnabend, Michael (Author) , Peter, Silke (Author) , Nurjadi, Dennis (Author) , Linh, Le Thi Kieu (Author) , Fendel, Rolf (Author) , Göpel, Siri (Author) , Riess, Olaf (Author) , Kremsner, Peter G. (Author) , Velavan, Thirumalaisamy P. (Author) ,


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  5. 5
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    Bi-allelic truncating mutations in VWA1 cause neuromyopathy by Deschauer, Marcus (Author) , Hengel, Holger (Author) , Rupprich, Katrin (Author) , Kreiß, Martina (Author) , Schlotter-Weigel, Beate (Author) , Grimmel, Mona (Author) , Admard, Jakob (Author) , Schneider, Ilka (Author) , Alhaddad, Bader (Author) , Gazou, Anastasia (Author) , Sturm, Marc (Author) , Vorgerd, Matthias (Author) , Balousha, Ghassan (Author) , Balousha, Osama (Author) , Falna, Mohammed (Author) , Kirschke, Jan S. (Author) , Kornblum, Cornelia (Author) , Jordan, Berit (Author) , Kraya, Torsten (Author) , Strom, Tim M. (Author) , Weis, Joachim (Author) , Schöls, Ludger (Author) , Schara, Ulrike (Author) , Zierz, Stephan (Author) , Riess, Olaf (Author) , Meitinger, Thomas (Author) , Haack, Tobias B. (Author) ,


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  6. 6
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    Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study by Jacobi, Heike (Author) , Du Montcel, Sophie Tezenas (Author) , Romanzetti, Sandro (Author) , Harmuth, Florian (Author) , Mariotti, Caterina (Author) , Nanetti, Lorenzo (Author) , Rakowicz, Maria (Author) , Makowicz, Grzegorz (Author) , Durr, Alexandra (Author) , Monin, Marie-Lorraine (Author) , Filla, Alessandro (Author) , Roca, Alessandro (Author) , Schöls, Ludger (Author) , Hengel, Holger (Author) , Infante, Jon (Author) , Kang, Jun-Suk (Author) , Timmann, Dagmar (Author) , Casali, Carlo (Author) , Masciullo, Marcella (Author) , Baliko, Laszlo (Author) , Melegh, Bela (Author) , Nachbauer, Wolfgang (Author) , Bürk-Gergs, Katrin (Author) , Schulz, Jörg B (Author) , Riess, Olaf (Author) , Reetz, Kathrin (Author) , Klockgether, Thomas (Author) ,


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  7. 7
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    RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases by Lochmüller, Hanns (Author) , Badowska, Dorota M. (Author) , Thompson, Rachel (Author) , Knoers, Nine V. (Author) , Aartsma-Rus, Annemieke (Author) , Gut, Ivo (Author) , Wood, Libby (Author) , Harmuth, Tina (Author) , Durudas, Andre (Author) , Graessner, Holm (Author) , Schaefer, Franz (Author) , Rieß, Olaf (Author) ,


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  8. 8
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    The risk of re-identification versus the need to identify individuals in rare disease research by Hansson, Mats G (Author) , Lochmüller, Hanns (Author) , Riess, Olaf (Author) , Schaefer, Franz (Author) , Orth, Michael (Author) , Rubinstein, Yaffa (Author) , Molster, Caron (Author) , Dawkins, Hugh (Author) , Taruscio, Domenica (Author) , Posada, Manuel (Author) , Woods, Simon (Author) ,


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  9. 9
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    Genome-wide UPD screening in patients with intellectual disability by Schroeder, Christopher Maximilian (Author) , Ekici, Arif Bülent (Author) , Moog, Ute (Author) , Grasshoff, Ute (Author) , Mau-Holzmann, Ulrike (Author) , Sturm, Marc (Author) , Vosseler, Vanessa (Author) , Poths, Sven (Author) , Rappold, Gudrun (Author) , Riess, Angelika (Author) , Riess, Olaf (Author) , Dufke, Andreas (Author) , Bonin, Michael (Author) ,


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  10. 10
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    Medizinische Genetik für die Praxis: Diagnostik, Beratung, Fallbeispiele

    Thieme c 2014
    Other Authors: “…Rieß, Olaf…”

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  11. 11
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    Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability by Gazou, Anastasia (Author) , Riess, Angelika (Author) , Grasshoff, Ute (Author) , Schäferhoff, Karin (Author) , Bonin, Michael (Author) , Jauch, Anna (Author) , Riess, Olaf (Author) , Tzschach, Andreas (Author) ,


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  12. 12
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    Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients Study by Rolfs, Arndt (Author) , Lichy, Christoph (Author) , Hennerici, Michael G. (Author) , Fazekas, Franz (Author) , Grittner, Ulrike (Author) , Dichgans, Martin (Author) , Martus, Peter (Author) , Holzhausen, Martin (Author) , Böttcher, Tobias (Author) , Heuschmann, Peter U. (Author) , Tatlisumak, Turgut (Author) , Tanislav, Christian (Author) , Jungehulsing, Gerhard J. (Author) , Giese, Anne-Katrin (Author) , Putaala, Jukaa (Author) , Huber, Roman (Author) , Bodechtel, Ulf (Author) , Enzinger, Christian (Author) , Schmidt, Reinhold (Author) , Kaps, Manfred (Author) , Kessler, Christof (Author) , Lackner, Karl (Author) , Paschke, Eduard (Author) , Meyer, Wolfgang (Author) , Mascher, Hermann (Author) , Riess, Olaf (Author) , Kolodny, Edwin (Author) , Norrving, Bo (Author) ,


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  13. 13
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    Intragenic deletions of IL1RAPL1: report of two cases and review of the literature by Behnecke, Anne (Author) , Hinderhofer, Katrin (Author) , Bartsch, Oliver (Author) , Nümann, Astrid (Author) , Ipach, Marie-Luise (Author) , Damatova, Natalja (Author) , Haaf, Thomas (Author) , Dufke, Andreas (Author) , Riess, Olaf (Author) , Moog, Ute (Author) ,


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  14. 14
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    Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits by Horn, Denise (Author) , Kapeller, Johannes (Author) , Rivera-Brugués, Núria (Author) , Moog, Ute (Author) , Lorenz-Depiereux, Bettina (Author) , Eck, Sebastian (Author) , Hempel, Maja (Author) , Wagenstaller, Janine (Author) , Gawthrope, Alex (Author) , Monaco, Anthony P. (Author) , Bonin, Michael (Author) , Riess, Olaf (Author) , Wohlleber, Eva (Author) , Illig, Thomas (Author) , Bezzina, Connie R. (Author) , Franke, Andre (Author) , Spranger, Stephanie (Author) , Villavicencio-Lorini, Pablo (Author) , Seifert, Wenke (Author) , Rosenfeld, Jochen (Author) , Klopocki, Eva (Author) , Rappold, Gudrun (Author) , Strom, Tim M. (Author) ,


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