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by Maffioletti, S M and Sarcar, S and Henderson, A and Mannhardt, I and Pinton, L and Moyle, L A and Moyle, L A and Steele-Stallard, H and Cappellari, O and Wells, K E and Ragazzi, M and Ragazzi, M and Ragazzi, M and Wang, W and Wang, W and Zammit, P and Wells, D J and Eschenhagen, T and Jung-Klawitter, S and Fuchs, N V and Upton, K R and Frömmrich, A and Miskey, C and Muñoz-Lopez, M and Shukla, R and Wang, J and Sebe, A and Merkert, S and Bock, A and Held, U and Menzel, M and Gogol-Döring, A and Haase, A and Izsvák, Z and Izsvák, Z and Ivics, Z and Martin, U and Garcia-Perez, J and Faulkner, G J and Terrasso, A P and Silva, M M and Arez, F and Sousa, M F and Raimundo, N and Gomes-Alves, P and Kremer, E J and Alves, P M and Brito, C and Moser, R and Decembrini, S and Gamm, D and Gamm, D and de Leone, V Ponce and Alves, S and Christaller, W and Subashi, E and Kacher, R and Lamazière, A and Despres, G and Saudou, F and Caboche, J and Betuing, S and Miyauchi, A and Nakajima, T and Taga, N and Ono, S A and Mizukami, H and Kato, M and Osaka, H and Muramatsu, S and Yamagata, T and Bouquet, C and Pruneau, D and Pruneau, D and Thomasson, N and Thomasson, N and Chavas, J and Chavas, J and Galluppi, F and Dalkara, D and Besnosman, R and Chenegros, G and Picaud, S and Sahel, J and Massó, A and Sánchez, A and Bosch, A and Blanch, R and Espinosa, J F and Giménez-Llort, L and Heidbüchel, J and Veinalde, R and Veinalde, R and Veinalde, R and Jäger, D and Jäger, D and Jäger, D and von Kalle, C and von Kalle, C and von Kalle, C and ...
Human Gene Therapy, ISSN 1043-0342, 12/2017, Volume 28, Issue 12, pp. A1 - A125
Journal Article
Diabetes Care, ISSN 0149-5992, 05/2015, Volume 38, Issue 5, pp. 801 - 807
Journal Article
Journal Article
by Köhler, Birgit and Kleinemeier, Eva and Lux, Anke and Hiort, Olaf and Grüters, Annette and Thyen, Ute and Akkurt, I and Albers, N and Bartsch, O and Becker, D and Beckmann, M. W and Beetz, R. H and Bettendorf, M and Beyer, P and Binder, G and Boemers, T and Brack, C and Caliebe, A and Dietz, H. G and Dobberphul, J and Dörr, H and Eckholdt, F and Finke, R and Fisch, M and Flück, C and Frohneberg, D and Gätjen, I and Gitter, H and Grüters, A and Hampel, R and Hauffa, B and Heidemann, P and Heinz, M and Hemmighaus, M and Hensen, J and Hofmann, U and Höhne, S and Holterhus, P. M and Hosie, S and Kapelari, K and Karges, B and Keller and Kiess, W and Körner, A and Korsch, E and Krege, S and Kuhnle-Krahl, U and l'Allemand-Jander, D and Leriche, C and Leube, B and Loeser, E and Lorenz, C and Marg, W and Mau, H and Mohnike, K and Morlot, M and Mullis, P and Partsch, C.-J and Pfäffle, R and Ranke, M and Rauch, A and Riccabona, M and Richter-Unruh, A and Riepe, F and Rohrer, T and Roll, M and Rösch, W and Roth, S and Salzgeber, K and Schmidt, D and Schott, G. E and Schröter, P and Schwarz, H. P and von Schweinitz, D and Siemer, S and Simic-Schleicher, G and Sinnecker, G and Sippell, W and Sohn, M and Stein, R and Tinschert, S and Uhlarik, S and Waag, K.L and Wabitsch, M and Waldhauser, F and Wallwiener, D and Wessel, L and Westenfelder, M and Wieacker, P and Willig, R. P and Wintgens, J and Wudy, S and Wünsch, L and Wüsthof, A and Zeeh, U and Zöller, G and Bertelloni, S and Cohen-Kettenis, P. T and Hughes, I. A and DSD Network Working Group and ... and DSD Network Working Grp and DSD Network Working Group
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/2012, Volume 97, Issue 2, pp. 577 - 588
Journal Article
Pediatrics, ISSN 0031-4005, 07/2001, Volume 108, Issue 1, pp. e5 - e5
Objective. To characterize a rare inherited hypokalemic salt-losing tubulopathy with linkage to chromosome 1p31. Methods. We conducted a retrospective analysis... 
HYPERPROSTAGLANDIN-E SYNDROME | tubulopathy | VARIANT | Bartter syndrome | polyhydramnios | pleiotropic gene | HYPERCALCIURIA | ANTENATAL BARTTER-SYNDROME | INFANTS | renal failure | GENETIC-HETEROGENEITY | PEDIATRICS | MUTATIONS | HENLES LOOP | THICK ASCENDING LIMB | DEVELOPMENTAL EXPRESSION | syndromic deafness | Haplotypes | Diuresis | Deafness - genetics | Kidney - pathology | Humans | Child, Preschool | Infant | Male | Renal Tubular Transport, Inborn Errors - genetics | Indomethacin - therapeutic use | Kidney - diagnostic imaging | Bartter Syndrome - genetics | Dinoprostone - urine | Hypokalemia - drug therapy | Ultrasonography | Female | Retrospective Studies | Renal Tubular Transport, Inborn Errors - diagnosis | Chromosomes, Human, Pair 1 - genetics | Child | Genetic Linkage | Renal Tubular Transport, Inborn Errors - drug therapy | Kidney Failure, Chronic - diagnosis | Renal Tubular Transport, Inborn Errors - pathology | Kidney Failure, Chronic - drug therapy | Treatment Outcome | Renal Tubular Transport, Inborn Errors - diagnostic imaging | Kidney - ultrastructure | Syndrome | Dinoprostone - metabolism | Kidney Failure, Chronic - genetics | Lebanon | Phenotype | Turkey | Anti-Inflammatory Agents, Non-Steroidal - therapeutic use | Pedigree | Adolescent | Creatinine - blood | Consanguinity | Growth Disorders - genetics | Hypokalemia - genetics | Cyclooxygenase Inhibitors - therapeutic use
Journal Article
Pediatric Diabetes, ISSN 1399-543X, 08/2010, Volume 11, Issue 5, pp. 357 - 363
Journal Article
Journal Article