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Zeitschriftenartikel
Drovandi, Stefania; Lipska-Zietkiewicz, Beata S.; Ozaltin, Fatih; Emma, Francesco; Gulhan, Bora; Boyer, Olivia; Trautmann, Agnes; Zietkiewicz, Szymon; Xu, Hong; Shen, Qian; Rao, Jia; Riedhammer, Korbinian M.; Heemann, Uwe; Hoefele, Julia; Stenton, Sarah L.; Tsygin, Alexey N.; Ng, Kar-Hui; Fomina, Svitlana; Benetti, Elisa; Aurelle, Manon; Prikhodina, Larisa; Schijvens, Anne M.; Tabatabaeifar, Mansoureh; Jankowski, Maciej; Baiko, Sergey; Mao, Jianhua; Feng, Chunyue; Deng, Fang; Rousset-Rouviere, Caroline; Stanczyk, Malgorzata; Balasz-Chmielewska, Irena; Fila, Marc; Durkan, Anne M.; Levart, Tanja Kersnik; Dursun, Ismail; Esfandiar, Nasrin; Haas, Dorothea; Bjerre, Anna; Anarat, Ali; Benz, Marcus R.; Talebi, Saeed; Hooman, Nakysa; Ariceta, Gema; Serna Higuita, Lina Maria; Schaefer, Franz; Trautmann, Agnes; Tabatabaeifar, Mansoureh; Gheissari, Alaleh; Hooman, Nakysa; Benetti, Elisa; Emma, Francesco; Nigmatullina, Nazym; Tkaczyk, Marcin; Borzecka, Halina; Tsygin, Alexey N.; Prikhodina, Larisa; Bogdanovic, Radovan; Mir, Sevgi; Fomina, Svitlana; Klopstock, Thomas; Prokisch, Holger; Kornblum, Cornelia; Liu, Cui-Hua; Sun, Shu-Zhen; Dong, Yang; Wang, Xiao-Wen; Luan, Jiang-Wei und Schaefer, Franz
(2022):
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
In: Kidney International, Bd. 102, Nr. 3: S. 592-603
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