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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 9
Zeitschriftenartikel
Burgmaier, Kathrin; Brinker, Leonie; Erger, Florian; Beck, Bodo B.; Benz, Marcus R.; Bergmann, Carsten; Boyer, Olivia; Collard, Laure; Dafinger, Claudia; Fila, Marc; Kowalewska, Claudia; Lange-Sperandio, Baerbel; Massella, Laura; Mastrangelo, Antonio; Mekahli, Djalila; Miklaszewska, Monika; Ortiz-Bruechle, Nadina; Patzer, Ludwig; Prikhodina, Larisa; Ranchin, Bruno; Ranguelov, Nadejda; Schild, Raphael; Seeman, Tomas; Sever, Lale; Sikora, Przemyslaw; Szczepanska, Maria; Teixeira, Ana; Thumfart, Julia; Uetz, Barbara; Weber, Lutz Thorsten; Wuehl, Elke; Zerres, Klaus; Doetsch, Joerg; Schaefer, Franz und Liebau, Max Christoph
(2021):
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants.
In: Kidney International, Bd. 100, Nr. 3: S. 650-659
Wiessner, Manuela; Maroofian, Reza; Ni, Meng-Yuan; Pedroni, Andrea; Müller, Juliane S.; Stucka, Rolf; Beetz, Christian; Efthymiou, Stephanie; Santorelli, Filippo M.; Alfares, Ahmed A.; Zhu, Changlian; Meszarosova, Anna Uhrova; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R.; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T.; Strom, Tim M.; De Jonghe, Peter; Deconinck, Tine; Ridder, Willem de; Winter, Jonathan de; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; Warrenburg, Bart P. van de; Portier, Ruben; Bergmann, Carsten; Firouzabadi, Saghar Ghasemi; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A.; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Wood, Nick W.; Mau-Them, Frederic Tran; Haack, Tobias; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laetitia; Schmitt, Emmanuelle; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J. H.; Grand, Katheryn; Graham, John M.; Lewis, Richard A.; Millan, Francisca; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schols, Ludger; Nuernberg, Peter; Nürnberg, Gudrun; Bordes, Andrea Catala; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Rebelo, Adriana; Boucanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S.; Shamseldin, Hanan; Al Tala, Saeed; Varaghchi, Jamileh Rezazadeh; Najafi, Maryam; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C.; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark und Senderek, Jan
(2021):
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
In: Brain, Bd. 144: S. 1422-1434
Boeckhaus, Jan; Hoefele, Julia; Riedhammer, Korbinian M.; Tonshoff, Burkhard; Ehren, Rasmus; Pape, Lars; Latta, Kay; Fehrenbach, Henry; Lange-Sperandio, Baerbel; Kettwig, Matthias; Hoyer, Peter; Staude, Hagen; Konrad, Martin; John, Ulrike; Gellermann, Jutta; Hoppe, Bernd; Galiano, Matthias; Gessner, Michaela; Pohl, Michael; Bergmann, Carsten; Friede, Tim und Gross, Oliver
(2020):
Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial.
In: Clinical Genetics, Bd. 99, Nr. 1: S. 143-156
Hohenfellner, Katharina; Bergmann, Carsten; Fleige, Tobias; Janzen, Nils; Burggraf, Siegfried; Olgemoeller, Bernd; Gahl, William A.; Czibere, Ludwig; Froschauer, Sonja; Roeschinger, Wulf; Vill, Katharina; Harms, Erik und Nennstiel, Uta
(2019):
Molecular based newborn screening in Germany: Follow-up for cystinosis.
In: Molecular Genetics and Metabolism Reports, Bd. 21, 100514
Hohenfellner, Katharina; Rauch, Frank; Ariceta, Gema; Awan, Atif; Bacchetta, Justine; Bergmann, Carsten; Bechtold, Susanne; Cassidy, Noelle; Deschenes, Geroges; Elenberg, Ewa; Gahl, William A.; Greil, Oliver; Harms, Erik; Herzig, Nadine; Hoppe, Bernd; Köppl, Christian; Lewis, Malcolm A.; Levtchenko, Elena; Nesterova, Galina; Santos, Fernando; Schlingmann, Karl P.; Servais, Aude; Soliman, Neveen A.; Steidle, Guenther; Sweeney, Clodagh; Treikauskas, Ulrike; Topaloglu, Rezan; Tsygin, Alexey; Veys, Koenraad; Vigier, Rodo von; Zustin, Jozef und Haffner, Dieter
(2019):
Management of bone disease in cystinosis: Statement from an international conference.
In: Journal of Inherited Metabolic Disease, Bd. 42, Nr. 5: S. 1019-1029
Eichinger, Anna; Ponsel, Sabine; Bergmann, Carsten; Günthner, Roman; Hoefele, Julia; Amann, Kerstin und Lange-Sperandio, Baerbel
(2018):
Cyclosporine A responsive congenital nephrotic syndrome with single heterozygous variants in NPHS1, NPHS2, and PLCE1.
In: Pediatric Nephrology, Bd. 33, Nr. 7: S. 1269-1272
Azukaitis, Karolis; Simkova, Eva; Majid, Mohammad Abdul; Galiano, Matthias; Benz, Kerstin; Amann, Kerstin; Bockmeyer, Clemens; Gajjar, Radha; Meyers, Kevin E.; Cheong, Hae Il; Lange-Sperandio, Bärbel; Jungraithmayr, Therese; Fremeaux-Bacchi, Veronique; Bergmann, Carsten; Bereczki, Csaba; Miklaszewska, Monika; Csuka, Dorottya; Prohaszka, Zoltan; Killen, Paul; Gipson, Patrick; Sampson, Matthew G.; Lemaire, Mathieu und Schäfer, Franz
(2017):
The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase epsilon (vol 28, pg 3066, 2017).
In: Journal of the American Society of Nephrology, Bd. 28, Nr. 11: S. 3425
Azukaitis, Karolis; Simkova, Eva; Majid, Mohammad Abdul; Galiano, Matthias; Benz, Kerstin; Amann, Kerstin; Bocknneyer, Clemens; Gajjar, Radha; Meyers, Kevin E.; Cheong, Hae Ii; Lange-Sperandio, Bärbel; Jungraithmayr, Therese; Fremeaux-Bacchi, Veronique; Bergmann, Carsten; Bereczki, Csaba; Miklaszewska, Monika; Csuka, Dorottya; Prohaszka, Zoltan; Gipson, Patrick; Sampson, Matthew G.; Lennaire, Mathieu und Schäfer, Franz
(2017):
The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase epsilon.
In: Journal of the American Society of Nephrology, Bd. 28, Nr. 10: S. 3066-3075
Vogl, Ina; Eck, Sebastian H.; Benet-Pages, Anna; Greif, Philipp A.; Hirv, Kaimo; Kotschote, Stefan; Kuhn, Marius; Gehring, Andrea; Bergmann, Carsten; Bolz, Hanno Joern; Stuhrmann, Manfred; Biskup, Saskia; Metzeler, Klaus H. und Klein, Hanns-Georg
(2012):
Diagnostic applications of next generation sequencing: working towards quality standards.
In: Laboratoriumsmedizin - Journal of Laboratory Medicine, Bd. 36, Nr. 4: S. 227-239
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