檢索結果 - Epting, Daniel

A Complex of BBS1 and NPHP7 Is Required for Cilia Motility in Zebrafish 由 Kim, Yun Hee, Epting, Daniel, Slanchev, Krasimir, Engel, Christina, Walz, Gerd, Kramer-Zucker, Albrecht

獲取全文 獲取全文 獲取全文

The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development 由 Hoff, Sylvia, Epting, Daniel, Falk, Nathalie, Schroda, Sophie, Braun, Daniela A., Halbritter, Jan, Hildebrandt, Friedhelm, Kramer-Zucker, Albrecht, Bergmann, Carsten, Walz, Gerd, Lienkamp, Soeren S.

獲取全文 獲取全文 獲取全文

Microridge-like structures anchor motile cilia 由 Yasunaga, Takayuki, Wiegel, Johannes, Bergen, Max D., Helmstädter, Martin, Epting, Daniel, Paolini, Andrea, Çiçek, Özgün, Radziwill, Gerald, Engel, Christina, Brox, Thomas, Ronneberger, Olaf, Walentek, Peter, Ulbrich, Maximilian H., Walz, Gerd

獲取全文 獲取全文 獲取全文

Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortiu... 由 Wuttke, Matthias, Wong, Craig S., Wühl, Elke, Epting, Daniel, Luo, Li, Hoppmann, Anselm, Doyon, Anke, Li, Yong, Sözeri, Betül, Thurn, Daniela, Helmstädter, Martin, Huber, Tobias B., Blydt-Hansen, Tom D., Kramer-Zucker, Albrecht, Mehls, Otto, Melk, Anette, Querfeld, Uwe, Furth, Susan L., Warady, Bradley A., Schaefer, Franz, Köttgen, Anna

獲取全文 獲取全文 獲取全文

Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome 由 Epting, Daniel, Senaratne, Lokuliyange D. S., Ott, Elisabeth, Holmgren, Asbjørn, Sumathipala, Dulika, Larsen, Selma M., Wallmeier, Julia, Bracht, Diana, Frikstad, Kari‐Anne M., Crowley, Suzanne, Sikiric, Alma, Barøy, Tuva, Käsmann‐Kellner, Barbara, Decker, Eva, Decker, Christian, Bachmann, Nadine, Patzke, Sebastian, Phelps, Ian G., Katsanis, Nicholas, Giles, Rachel, Schmidts, Miriam, Zucknick, Manuela, Lienkamp, Soeren S., Omran, Heymut, Davis, Erica E., Doherty, Dan, Strømme, Petter, Frengen, Eirik, Bergmann, Carsten, Misceo, Doriana

獲取全文 獲取全文 獲取全文

Mutations in DZIP1L, which encodes a ciliary transition zone protein, cause autosomal recessive polycystic kidney disease 由 Lu, Hao, Galeano, Maria C. Rondón, Ott, Elisabeth, Kaeslin, Geraldine, Kausalya, P. Jaya, Kramer, Carina, Ortiz-Brüchle, Nadina, Hilger, Nadescha, Metzis, Vicki, Hiersche, Milan, Tay, Shang Yew, Tunningley, Robert, Vij, Shubha, Courtney, Andrew D., Whittle, Belinda, Wühl, Elke, Vester, Udo, Hartleben, Björn, Neuber, Steffen, Frank, Valeska, Little, Melissa H., Epting, Daniel, Papathanasiou, Peter, Perkins, Andrew C., Wright, Graham D., Hunziker, Walter, Gee, Heon Yung, Otto, Edgar A., Zerres, Klaus, Hildebrandt, Friedhelm, Roy, Sudipto, Wicking, Carol, Bergmann, Carsten

獲取全文 獲取全文 獲取全文

Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations 由 Devane, John, Ott, Elisabeth, Olinger, Eric G., Epting, Daniel, Decker, Eva, Friedrich, Anja, Bachmann, Nadine, Renschler, Gina, Eisenberger, Tobias, Briem-Richter, Andrea, Grabhorn, Enke Freya, Powell, Laura, Wilson, Ian J., Rice, Sarah J., Miles, Colin G., Wood, Katrina, Trivedi, Palak, Hirschfield, Gideon, Pietrobattista, Andrea, Wohler, Elizabeth, Mezina, Anya, Sobreira, Nara, Agolini, Emanuele, Maggiore, Giuseppe, Dahmer-Heath, Mareike, Yilmaz, Ali, Boerries, Melanie, Metzger, Patrick, Schell, Christoph, Grünewald, Inga, Konrad, Martin, König, Jens, Schlevogt, Bernhard, Sayer, John A., Bergmann, Carsten

獲取全文 獲取全文 獲取全文

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3 由 Hoff, Sylvia, Halbritter, Jan, Epting, Daniel, Frank, Valeska, Nguyen, Thanh-Minh T., van Reeuwijk, Jeroen, Boehlke, Christopher, Schell, Christoph, Yasunaga, Takayuki, Helmstädter, Martin, Mergen, Miriam, Filhol, Emilie, Boldt, Karsten, Horn, Nicola, Ueffing, Marius, Otto, Edgar A., Eisenberger, Tobias, Elting, Mariet W., van Wijk, Joanna A.E., Bockenhauer, Detlef, Sebire, Neil J., Rittig, Søren, Vyberg, Mogens, Ring, Troels, Pohl, Martin, Pape, Lars, Neuhaus, Thomas J., Soliman Elshakhs, Neveen A., Koon, Sarah J., Harris, Peter C., Grahammer, Florian, Huber, Tobias B., Kuehn, E. Wolfgang, Kramer-Zucker, Albrecht, Bolz, Hanno J., Roepman, Ronald, Saunier, Sophie, Walz, Gerd, Hildebrandt, Friedhelm, Bergmann, Carsten, Lienkamp, Soeren S.

獲取全文 獲取全文 獲取全文