An expert perspective on phosphate dysregulation with a focus on chronic hypophosphatemia द्वारा Aljuraibah, F, Bacchetta, J, Brandi, ML, Florenzano, P, Javaid, MK, Mäkitie, O, Raimann, A, Rodriguez, M, Siggelkow, H, Tiosano, D, Vervloet, M, Wagner, CA

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hyp... द्वारा Bowl, MR, Mirczuk, S, Grigorieva, I, Piret, SE, Cranston, T, Southam, L, Allgrove, J, Bahl, S, Brain, C, Loughlin, J, Mughal, Z, Ryan, F, Shaw, N, Thakker, Y, Tiosano, D, Nesbit, M, Thakker, R

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling द्वारा Lin, Y-C, Niceta, M, Muto, V, Vona, B, Pagnamenta, AT, Maroofian, R, Beetz, C, van Duyvenvoorde, H, Dentici, ML, Lauffer, P, Vallian, S, Ciolfi, A, Pizzi, S, Bauer, P, Grüning, N-M, Bellacchio, E, Del Fattore, A, Petrini, S, Shaheen, R, Tiosano, D, Halloun, R, Pode-Shakked, B, Albayrak, HM, Işık, E, Wit, JM, Dittrich, M, Freire, BL, Bertola, DR, Jorge, AAL, Barel, O, Sabir, AH, Al Tenaiji, AMJ, Taji, SM, Al-Sannaa, N, Al-Abdulwahed, H, Digilio, MC, Irving, M, Anikster, Y, Bhavani, GSL, Girisha, KM, Haaf, T, Taylor, JC, Dallapiccola, B, Alkuraya, FS, Yang, R-B, Tartaglia, M