Search Results - Hoefele, Julia

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  1. 1
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    Erweiterung des Neugeborenenscreenings durch kommerzielle Anbieter: Stellungnahme der Screeningkommission der Deutschen Gesellschaft für Kinder- und Jugendmedizin by Blankenstein, Oliver (Author) , Härtel, Christoph (Author) , Hoefele, Julia (Author) , Hoffmann, Georg F. (Author) , Hörster, Friederike (Author) , Lawrenz, Burkhard (Author) , Lotz-Havla, Amelie (Author) , Maier, Esther (Author) , Sommerburg, Olaf (Author) , Speckmann, Carsten (Author) , Urschitz, Michael S. (Author) ,


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  2. 2
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    Oral coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency by Drovandi, Stefania (Author) , Lipska-Ziętkiewicz, Beata S. (Author) , Ozaltin, Fatih (Author) , Emma, Francesco (Author) , Gulhan, Bora (Author) , Boyer, Olivia (Author) , Trautmann, Agnes (Author) , Xu, Hong (Author) , Shen, Qian (Author) , Rao, Jia (Author) , Riedhammer, Korbinian M. (Author) , Heemann, Uwe (Author) , Hoefele, Julia (Author) , Stenton, Sarah L. (Author) , Tsygin, Alexey N. (Author) , Ng, Kar-Hui (Author) , Fomina, Svitlana (Author) , Benetti, Elisa (Author) , Aurelle, Manon (Author) , Prikhodina, Larisa (Author) , Schreuder, Michiel F. (Author) , Tabatabaeifar, Mansoureh (Author) , Jankowski, Maciej (Author) , Baiko, Sergey (Author) , Mao, Jianhua (Author) , Feng, Chunyue (Author) , Liu, Cuihua (Author) , Sun, Shuzhen (Author) , Deng, Fang (Author) , Wang, Xiaowen (Author) , Clavé, Stéphanie (Author) , Stańczyk, Małgorzata (Author) , Bałasz-Chmielewska, Irena (Author) , Fila, Marc (Author) , Durkan, Anne M. (Author) , Levart, Tanja Kersnik (Author) , Dursun, Ismail (Author) , Esfandiar, Nasrin (Author) , Haas, Dorothea (Author) , Bjerre, Anna (Author) , Anarat, Ali (Author) , Benz, Marcus R. (Author) , Talebi, Saeed (Author) , Hooman, Nakysa (Author) , Ariceta, Gema (Author) , Serna Higuita, Lina Maria (Author) , Schaefer, Franz (Author) , Gheissari, Alaleh (Author) , Nigmatullina, Nazym (Author) , Tkaczyk, Marcin (Author) , Borzecka, Halina (Author) , Bogdanovic, Radovan (Author) , Mir, Sevgi (Author) , Klopstock, Thomas (Author) , Prokisch, Holger (Author) , Kornblum, Cornelia (Author) , Liu, Cui-Hua (Author) , Sun, Shu-Zhen (Author) , Dong, Yang (Author) , Wang, Xiao-Wen (Author) , Luan, Jiang-Wei (Author) ,


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  3. 3
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    Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy by Drovandi, Stefania (Author) , Lipska-Ziętkiewicz, Beata S. (Author) , Ozaltin, Fatih (Author) , Emma, Francesco (Author) , Gulhan, Bora (Author) , Boyer, Olivia (Author) , Trautmann, Agnes (Author) , Ziętkiewicz, Szymon (Author) , Xu, Hong (Author) , Shen, Qian (Author) , Rao, Jia (Author) , Riedhammer, Korbinian M. (Author) , Heemann, Uwe (Author) , Hoefele, Julia (Author) , Stenton, Sarah L. (Author) , Tsygin, Alexey N. (Author) , Ng, Kar-Hui (Author) , Fomina, Svitlana (Author) , Benetti, Elisa (Author) , Aurelle, Manon (Author) , Prikhodina, Larisa (Author) , Schijvens, Anne M. (Author) , Tabatabaeifar, Mansoureh (Author) , Jankowski, Maciej (Author) , Baiko, Sergey (Author) , Mao, Jianhua (Author) , Feng, Chunyue (Author) , Deng, Fang (Author) , Rousset-Rouviere, Caroline (Author) , Stańczyk, Małgorzata (Author) , Bałasz-Chmielewska, Irena (Author) , Fila, Marc (Author) , Durkan, Anne M. (Author) , Levart, Tanja Kersnik (Author) , Dursun, Ismail (Author) , Esfandiar, Nasrin (Author) , Haas, Dorothea (Author) , Bjerre, Anna (Author) , Anarat, Ali (Author) , Benz, Marcus R. (Author) , Talebi, Saeed (Author) , Hooman, Nakysa (Author) , Ariceta, Gema (Author) , Schaefer, Franz (Author) ,


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  4. 4
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    Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling by Holtz, Alexander M. (Author) , VanCoillie, Rachel (Author) , Vansickle, Elizabeth A. (Author) , Carere, Deanna Alexis (Author) , Withrow, Kara (Author) , Torti, Erin (Author) , Juusola, Jane (Author) , Millan, Francisca (Author) , Person, Richard (Author) , Guillen Sacoto, Maria J. (Author) , Si, Yue (Author) , Wentzensen, Ingrid M. (Author) , Pugh, Jada (Author) , Vasileiou, Georgia (Author) , Rieger, Melissa (Author) , Reis, André (Author) , Argilli, Emanuela (Author) , Sherr, Elliott H. (Author) , Aldinger, Kimberly A. (Author) , Dobyns, William B. (Author) , Brunet, Theresa (Author) , Hoefele, Julia (Author) , Wagner, Matias (Author) , Haber, Benjamin (Author) , Kotzaeridou, Urania (Author) , Keren, Boris (Author) , Heron, Delphine (Author) , Mignot, Cyril (Author) , Heide, Solveig (Author) , Courtin, Thomas (Author) , Buratti, Julien (Author) , Murugasen, Serini (Author) , Donald, Kirsten A. (Author) , O’Heir, Emily (Author) , Moody, Shade (Author) , Kim, Katherine H. (Author) , Burton, Barbara K. (Author) , Yoon, Grace (Author) , Campo, Miguel del (Author) , Masser-Frye, Diane (Author) , Kozenko, Mariya (Author) , Parkinson, Christina (Author) , Sell, Susan L. (Author) , Gordon, Patricia L. (Author) , Prokop, Jeremy W. (Author) , Karaa, Amel (Author) , Bupp, Caleb (Author) , Raby, Benjamin A. (Author) ,


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  5. 5
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    Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age by Günthner, Roman (Author) , Knipping, Lea (Author) , Jeruschke, Stefanie (Author) , Satanoskij, Robin (Author) , Lorenz-Depiereux, Bettina (Author) , Hemmer, Clara (Author) , Braunisch, Matthias C. (Author) , Riedhammer, Korbinian M. (Author) , Ćomić, Jasmina (Author) , Tönshoff, Burkhard (Author) , Tasic, Velibor (Author) , Abazi-Emini, Nora (Author) , Nushi-Stavileci, Valbona (Author) , Buiting, Karin (Author) , Gjorgjievski, Nikola (Author) , Momirovska, Ana (Author) , Patzer, Ludwig (Author) , Kirschstein, Martin (Author) , Gross, Oliver (Author) , Lungu, Adrian (Author) , Weber, Stefanie (Author) , Renders, Lutz (Author) , Heemann, Uwe (Author) , Meitinger, Thomas (Author) , Büscher, Anja K. (Author) , Hoefele, Julia (Author) ,


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  6. 6
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    Rapid response to cyclosporin A and favorable renal outcome in nongenetic versus genetic steroid-resistant nephrotic syndrome by Büscher, Anja K. (Author) , Beck, Bodo B. (Author) , Melk, Anette (Author) , Hoefele, Julia (Author) , Kranz, Birgitta (Author) , Bamborschke, Daniel (Author) , Baig, Sabrina (Author) , Lange-Sperandio, Bärbel (Author) , Jungraithmayr, Theresa (Author) , Weber, Lutz T. (Author) , Kemper, Markus J. (Author) , Tönshoff, Burkhard (Author) , Hoyer, Peter F. (Author) , Konrad, Martin (Author) , Weber, Stefanie (Author) ,


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  7. 7
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    Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis by Olbrich, Heike (Author) , Fliegauf, Manfred (Author) , Hoefele, Julia (Author) , Kispert, Andreas (Author) , Otto, Edgar (Author) , Volz, Andreas (Author) , Wolf, Matthias T. (Author) , Sasmaz, Gürsel (Author) , Trauer, Ute (Author) , Reinhardt, Richard (Author) , Sudbrak, Ralf (Author) , Antignac, Corinne (Author) , Gretz, Norbert (Author) , Walz, Gerd (Author) , Schermer, Bernhard (Author) , Benzing, Thomas (Author) , Hildebrandt, Friedhelm (Author) , Omran, Heymut (Author) ,


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