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Najafi, Maryam [Author]; Kordi-Tamandani, Dor Mohammad [Author]; Behjati, Farkhondeh [Author]; Sadeghi-Bojd, Simin [Author]; Bakey, Zeineb [Author]; Karimiani, Ehsan Ghayoor [Author]; Schüle, Isabel [Author]; Azarfar, Anoush [Author]; Schmidts, Miriam [Author]

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

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London: BioMed Central, 2019

Published in: Orphanet journal of rare dise ; 14, 1 (2019), 41$z1750-1172
Ziegler, Carolin Isabel [Author] ; Universität Wien

Die Behandlung eines Testamentary Trust unter österreichischem Recht : eine Untersuchung des englischen und liechtensteinischen Testamentary Trust und seiner funktionsverwandten österreichischen Rechtsinstitute

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Wien: Universität Wien, 2018
Becker, Anna Isabel [Author] ; Universität Wien

Die Entwicklung von Solidaritätsmechanismen in der EU- Asyl- und Migrationspolitik auf dem Prüfstand : am Beispiel der Diskussion um die Einführung einer Migrationsquote : Problemfelder – Entwicklungen – Analyse

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Wien: Universität Wien, 2017
Schüle, Isabel [Author]; Berger, Urs [Author]; Matysiak, Uta [Author]; Ruzaike, Gunda [Author]; Stiller, Brigitte [Author]; Pohl, Martin [Author]; Spiekerkötter, Ute [Author]; Lausch, Ekkehart [Author]; Grünert, Sarah [Author]; Schmidts, Miriam [Author]

A homozygous deletion of exon 5 of KYNU resulting from a maternal chromosome 2 isodisomy (UPD2) causes Catel-Manzke-Syndrome/VCRL syndrome

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Basel: MDPI, 2021

Published in: Genes ; 12, 6 (2021), 879
Najafi, Maryam [Author]; Kordi-Tamandani, Dor Mohammad [Author]; Azarfar, Anoush [Author]; Bakey, Zeineb [Author]; Behjati, Farkhondeh [Author]; Antony, Dinu [Author]; Schüle, Isabel [Author]; Sadeghi-Bojd, Simin [Author]; Karimiani, Ehsan Ghayoor [Author]; Schmidts, Miriam [Author]

A 57 kB genomic deletion causing CTNS loss of function contributes to the CTNS mutational spectrum in the Middle East

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Lausanne: Frontiers Media, 2019

Published in: Frontiers in pediatrics ; 7 (2019), 89
Schüle, Ralf [Author]; Venjakob, Johannes [Author]; Berlo, Kurt [Author]; Best, Benjamin [Author]; Drissen, Isabel [Author]; Fekkak, Miriam [Author]; Kaselofsky, Jan [Author]; Lucas, Rainer [Author]; März, Steven [Author]; Müller, Miriam [Author]; Reutter, Oscar [Author]; Roelfes, Michaela [Author]; Wagner, Oliver [Author]; Acksel, Britta [Author]; Schmitt, Lea [Author]; Schweiger, Stefan [Author]; Reicher, Christa [Author]; Bläser, Daniel [Author]; Fort, Henning [Author]; Söfker-Rieniets, Anne [Author]; Hemkendreis, Christian [Author]; Schwarze, Björn [Author]; Spiekermann, Klaus [Author]; Wegener, Michael [Author]; [...]

Die Energiewende regional gestalten : auf dem Weg zu einer Energiewende-Roadmap im Ruhrgebiet

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Wuppertal : Wuppertal Institut für Klima, Umwelt, Energie, 2017
Idelevich, Evgeny A.; Schüle, Isabel; Grünastel, Barbara; Wüllenweber, Jörg; Peters, Georg; Becker, Karsten

Acceleration of Antimicrobial Susceptibility Testing of Positive Blood Cultures by Inoculation of Vitek 2 Cards with Briefly Incubated Solid Medium Cultures

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American Society for Microbiology, 2014

Published in: Journal of Clinical Microbiology, 52 (2014) 11, Seite 4058-4062
Rattay, Tim W; Völker, Maximilian; Rautenberg, Maren; Kessler, Christoph; Wurster, Isabel; Winter, Natalie; Haack, Tobias B; Lindig, Tobias; Hengel, Holger; Synofzik, Matthis; Schüle, Rebecca; Martus, Peter; Schöls, Ludger

The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study

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Oxford University Press (OUP), 2023

Published in: Brain, 146 (2023) 3, Seite 1093-1102
Schüle, Isabel; Berger, Urs; Matysiak, Uta; Ruzaike, Gunda; Stiller, Brigitte; Pohl, Martin; Spiekerkoetter, Ute; Lausch, Ekkehart; Grünert, Sarah C.; Schmidts, Miriam

A Homozygous Deletion of Exon 5 of KYNU Resulting from a Maternal Chromosome 2 Isodisomy (UPD2) Causes Catel-Manzke-Syndrome/VCRL Syndrome

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MDPI AG, 2021

Published in: Genes, 12 (2021) 6, Seite 879
Najafi, Maryam; Tamandani, Dor Mohammad Kordi; Azarfar, Anoush; Bakey, Zeineb; Behjati, Farkhondeh; Antony, Dinu; Schüle, Isabel; Sadeghi-Bojd, Simin; Karimiani, Ehsan Ghayoor; Schmidts, Miriam

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East

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Frontiers Media SA, 2019

Published in: Frontiers in Pediatrics, 7 (2019)
Najafi, Maryam; Kordi-Tamandani, Dor Mohammad; Behjati, Farkhondeh; Sadeghi-Bojd, Simin; Bakey, Zeineb; Karimiani, Ehsan Ghayoor; Schüle, Isabel; Azarfar, Anoush; Schmidts, Miriam

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

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Springer Science and Business Media LLC, 2019

Published in: Orphanet Journal of Rare Diseases, 14 (2019) 1
Kessler, Christoph; Serna‐Higuita, Lina M.; Rattay, Tim W.; Maetzler, Walter; Wurster, Isabel; Hayer, Stefanie; Wilke, Carlo; Hengel, Holger; Reichbauer, Jennifer; Armbruster, Marcel; Schöls, Ludger; Martus, Peter; Schüle, Rebecca

Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia

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Wiley, 2021

Published in: Annals of Clinical and Translational Neurology, 8 (2021) 5, Seite 1122-1131
Najafi, Maryam; Riedhammer, Korbinian M.; Rad, Aboulfazl; Torbati, Paria Najarzadeh; Berutti, Riccardo; Schüle, Isabel; Schroda, Sophie; Meitinger, Thomas; Ćomić, Jasmina; Bojd, Simin Sadeghi; Baranzehi, Tayebeh; Shojaei, Azadeh; Azarfar, Anoush; Khazaei, Mahmood Reza; Köttgen, Anna; Backofen, Rolf; Karimiani, Ehsan Ghayoor; Hoefele, Julia; Schmidts, Miriam

High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases

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Frontiers Media SA, 2022

Published in: Frontiers in Pediatrics, 10 (2022)
Lewandowski, Iris; Clifton-Brown, John; Trindade, Luisa M.; van der Linden, Gerard C.; Schwarz, Kai-Uwe; Müller-Sämann, Karl; Anisimov, Alexander; Chen, C.-L.; Dolstra, Oene; Donnison, Iain S.; Farrar, Kerrie; Fonteyne, Simon; Harding, Graham; Hastings, Astley; Huxley, Laurie M.; Iqbal, Yasir; Khokhlov, Nikolay; Kiesel, Andreas; Lootens, Peter; Meyer, Heike; Mos, Michal; Muylle, Hilde; Nunn, Chris; Özgüven, Mensure; [...]

Progress on Optimizing Miscanthus Biomass Production for the European Bioeconomy: Results of the EU FP7 Project OPTIMISC

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Frontiers Media SA, 2016

Published in: Frontiers in Plant Science, 7 (2016)
Coutelier, Marie; Goizet, Cyril; Durr, Alexandra; Habarou, Florence; Morais, Sara; Dionne-Laporte, Alexandre; Tao, Feifei; Konop, Juliette; Stoll, Marion; Charles, Perrine; Jacoupy, Maxime; Matusiak, Raphaël; Alonso, Isabel; Tallaksen, Chantal; Mairey, Mathilde; Kennerson, Marina; Gaussen, Marion; Schule, Rebecca; Janin, Maxime; Morice-Picard, Fanny; Durand, Christelle M.; Depienne, Christel; Calvas, Patrick; Coutinho, Paula; [...]

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

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Oxford University Press (OUP), 2015

Published in: Brain, 138 (2015) 8, Seite 2191-2205
Roux, Thomas; Barbier, Mathieu; Papin, Mélanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, Stephan; Lohmann, Ebba; Van Maldergem, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra; Durr, Alexandra; Stevanin, Giovanni; Brice, Alexis; [...]

Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

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Elsevier BV, 2021

Published in: Genetics in Medicine, 23 (2021) 10, Seite 2021
Roux, Thomas; Barbier, Mathieu; Papin, Mélanie; Davoine, Claire-Sophie; Sayah, Sabrina; Coarelli, Giulia; Charles, Perrine; Marelli, Cecilia; Parodi, Livia; Tranchant, Christine; Goizet, Cyril; Klebe, Stephan; Lohmann, Ebba; Van Maldergem, Lionel; van Broeckhoven, Christine; Coutelier, Marie; Tesson, Christelle; Stevanin, Giovanni; Duyckaerts, Charles; Brice, Alexis; Durr, Alexandra; Durr, Alexandra; Stevanin, Giovanni; Brice, Alexis; [...]

Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

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Elsevier BV, 2020

Published in: Genetics in Medicine, 22 (2020) 11, Seite 1851-1862
Matalonga, Leslie; Hernández-Ferrer, Carles; Piscia, Davide; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Matalonga, Leslie; Nelson, Isabelle; Peters, Sophia; Paramonov, Ida; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; van der Velde, Joeri K.; Vitobello, Antonio; Schüle, Rebecca; [...]

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

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Springer Science and Business Media LLC, 2021

Published in: European Journal of Human Genetics, 29 (2021) 9, Seite 1466-1469
Matalonga, Leslie; Hernández-Ferrer, Carles; Piscia, Davide; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Gilissen, Christian; Johari, Mridul; Laurie, Steven; Li, Shuang; Matalonga, Leslie; Nelson, Isabelle; Peters, Sophia; Paramonov, Ida; Prasanth, Sivakumar; Robinson, Peter; Sablauskas, Karolis; Savarese, Marco; Steyaert, Wouter; van der Velde, Joeri K.; Vitobello, Antonio; Schüle, Rebecca; [...]

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

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Springer Science and Business Media LLC, 2021

Published in: European Journal of Human Genetics, 29 (2021) 9, Seite 1337-1347
Schüle, Rebecca; Timmann, Dagmar; Erasmus, Corrie E.; Reichbauer, Jennifer; Wayand, Melanie; Baets, Jonathan; Balicza, Peter; Chinnery, Patrick; Dürr, Alexandra; Haack, Tobias; Hengel, Holger; Horvath, Rita; Houlden, Henry; Kamsteeg, Erik-Jan; Kamsteeg, Christoph; Lohmann, Katja; Macaya, Alfons; Marcé-Grau, Anna; Maver, Ales; Molnar, Judit; Münchau, Alexander; Peterlin, Borut; Riess, Olaf; Schöls, Ludger; [...]

Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

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Springer Science and Business Media LLC, 2021

Published in: European Journal of Human Genetics, 29 (2021) 9, Seite 1462-1465

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