Výsledky vyhledávání - Tiosano, Dov

Mitochondrial Dysfunction in Primary Ovarian Insufficiency Autor Tiosano, Dov, Mears, Jason A, Buchner, David A

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Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets Autor Lorenz-Depiereux, Bettina, Schnabel, Dirk, Tiosano, Dov, Häusler, Gabriele, Strom, Tim M.

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Evidence of ERalpha and ERbeta selectivity and partial estrogen agonism in traditional Chinese medicine Autor Tiosano, Dov, Paris, Françoise, Grimaldi, Marina, Georgescu, Vera, Servant, Nadège, Hochberg, Zeev, Balaguer, Patrick, Sultan, Charles

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In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant Autor Cohen, Michal, Pignatti, Emanuele, Dines, Monica, Mory, Adi, Ekhilevitch, Nina, Kolodny, Rachel, Flück, Christa E., Tiosano, Dov

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Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes Autor Grüters-Kieslich, Annette, Reyes, Monica, Sharma, Amita, Demirci, Cem, DeClue, Terry J., Lankes, Erwin, Tiosano, Dov, Schnabel, Dirk, Jüppner, Harald

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SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4 Autor Mandel, Hannah, Shemer, Revital, Borochowitz, Zvi U., Okopnik, Marina, Knopf, Carlos, Indelman, Margarita, Drugan, Arie, Tiosano, Dov, Gershoni-Baruch, Ruth, Choder, Mordechai, Sprecher, Eli

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Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes Autor Tiosano, Dov, Audi, Laura, Climer, Sharlee, Zhang, Weixiong, Templeton, Alan R., Fernández-Cancio, Monica, Gershoni-Baruch, Ruth, Sánchez-Muro, José Miguel, El Kholy, Mohamed, Hochberg, Zèev

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An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia Autor Aljuraibah, Fahad, Bacchetta, Justine, Brandi, Maria Luisa, Florenzano, Pablo, Javaid, Muhammad K, Mäkitie, Outimaija, Raimann, Adalbert, Rodriguez, Mariano, Siggelkow, Heide, Tiosano, Dov, Vervloet, Marc, Wagner, Carsten A

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Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3 Autor Lorenz-Depiereux, Bettina, Benet-Pages, Anna, Eckstein, Gertrud, Tenenbaum-Rakover, Yardena, Wagenstaller, Janine, Tiosano, Dov, Gershoni-Baruch, Ruth, Albers, Norbert, Lichtner, Peter, Schnabel, Dirk, Hochberg, Ze’ev, Strom, Tim M.

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TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)() Autor Molinaro, Angelo, Tiosano, Dov, Takatani, Rieko, Chrysis, Dionisios, Russell, William, Koscielniak, Nikolas, Kottler, Marie-Laure, Agretti, Patrizia, De Marco, Giuseppina, Ahtiainen, Petteri, Christov, Marta, Mäkitie, Outi, Tonacchera, Massimo, Jüppner, Harald

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Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome Autor Cohen, Michal, Persky, Rebecca, Stegemann, Rachel, Hernández-Ramírez, Laura C, Zeltser, Deena, Lodish, Maya B, Chen, Anlu, Keil, Margaret F, Tatsi, Christina, Faucz, Fabio R, Buchner, David A, Stratakis, Constantine A, Tiosano, Dov

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Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency Autor Chen, Anlu, Tiosano, Dov, Guran, Tulay, Baris, Hagit N, Bayram, Yavuz, Mory, Adi, Shapiro-Kulnane, Laura, Hodges, Craig A, Akdemir, Zeynep C, Turan, Serap, Jhangiani, Shalini N, van den Akker, Focco, Hoppel, Charles L, Salz, Helen K, Lupski, James R, Buchner, David A

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Mutations in SLC34A3/NPT2c Are Associated with Kidney Stones and Nephrocalcinosis Autor Dasgupta, Debayan, Wee, Mark J., Reyes, Monica, Li, Yuwen, Simm, Peter J., Sharma, Amita, Schlingmann, Karl-Peter, Janner, Marco, Biggin, Andrew, Lazier, Joanna, Gessner, Michaela, Chrysis, Dionisios, Tuchman, Shamir, Baluarte, H. Jorge, Levine, Michael A., Tiosano, Dov, Insogna, Karl, Hanley, David A., Carpenter, Thomas O., Ichikawa, Shoji, Hoppe, Bernd, Konrad, Martin, Sävendahl, Lars, Munns, Craig F., Lee, Hang, Jüppner, Harald, Bergwitz, Clemens

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Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations Autor Villanueva, Carine, Jacobson-Dickman, Elka, Xu, Cheng, Manouvrier, Sylvie, Dwyer, Andrew A., Sykiotis, Gerasimos P., Beenken, Andrew, Liu, Yang, Tommiska, Johanna, Hu, Youli, Tiosano, Dov, Gerard, Marion, Leger, Juliane, Drouin-Garraud, Valérie, Lefebvre, Hervé, Polak, Michel, Carel, Jean-Claude, Phan-Hug, Franziska, Hauschild, Michael, Plummer, Lacey, Rey, Jean-Pierre, Raivio, Taneli, Bouloux, Pierre, Sidis, Yisrael, Mohammadi, Moosa, de Roux, Nicolas, Pitteloud, Nelly

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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction Autor Tiosano, Dov, Baris, Hagit N., Chen, Anlu, Hitzert, Marrit M., Schueler, Markus, Gulluni, Federico, Wiesener, Antje, Bergua, Antonio, Mory, Adi, Copeland, Brett, Gleeson, Joseph G., Rump, Patrick, van Meer, Hester, Sival, Deborah A., Haucke, Volker, Kriwinsky, Josh, Knaup, Karl X., Reis, André, Hauer, Nadine N., Hirsch, Emilio, Roepman, Ronald, Pfundt, Rolph, Thiel, Christian T., Wiesener, Michael S., Aslanyan, Mariam G., Buchner, David A.

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Global Consensus Recommendations on Prevention and Management of Nutritional Rickets Autor Munns, Craig F., Shaw, Nick, Kiely, Mairead, Specker, Bonny L., Thacher, Tom D., Ozono, Keiichi, Michigami, Toshimi, Tiosano, Dov, Mughal, M. Zulf, Mäkitie, Outi, Ramos-Abad, Lorna, Ward, Leanne, DiMeglio, Linda A., Atapattu, Navoda, Cassinelli, Hamilton, Braegger, Christian, Pettifor, John M., Seth, Anju, Idris, Hafsatu Wasagu, Bhatia, Vijayalakshmi, Fu, Junfen, Goldberg, Gail, Sävendahl, Lars, Khadgawat, Rajesh, Pludowski, Pawel, Maddock, Jane, Hyppönen, Elina, Oduwole, Abiola, Frew, Emma, Aguiar, Magda, Tulchinsky, Ted, Butler, Gary, Högler, Wolfgang

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PI(3,4)P2-mediated cytokinetic abscission prevents early senescence and cataract formation Autor Gulluni, Federico, Prever, Lorenzo, Li, Huayi, Krafcikova, Petra, Corrado, Ilaria, Lo, Wen-Ting, Margaria, Jean Piero, Chen, Anlu, De Santis, Maria Chiara, Cnudde, Sophie J., Fogerty, Joseph, Yuan, Alex, Massarotti, Alberto, Sarijalo, Nasrin Torabi, Vadas, Oscar, Williams, Roger L., Thelen, Marcus, Powell, David R., Schüler, Markus, Wiesener, Michael S., Balla, Tamas, Baris, Hagit N., Tiosano, Dov, McDermott, Brian M., Perkins, Brian D., Ghigo, Alessandra, Martini, Miriam, Haucke, Volker, Boura, Evzen, Merlo, Giorgio Roberto, Buchner, David A., Hirsch, Emilio

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Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features Autor Li, Dong, Wang, Qin, Gong, Naihua N., Kurolap, Alina, Feldman, Hagit Baris, Boy, Nikolas, Brugger, Melanie, Grand, Katheryn, McWalter, Kirsty, Guillen Sacoto, Maria J., Wakeling, Emma, Hurst, Jane, March, Michael E., Bhoj, Elizabeth J., Nowaczyk, Małgorzata J. M., Gonzaga-Jauregui, Claudia, Mathew, Mariam, Dava-Wala, Ashita, Siemon, Amy, Bartholomew, Dennis, Huang, Yue, Lee, Hane, Martinez-Agosto, Julian A., Schwaibold, Eva M. C., Brunet, Theresa, Choukair, Daniela, Pais, Lynn S., White, Susan M., Christodoulou, John, Brown, Dana, Lindstrom, Kristin, Grebe, Theresa, Tiosano, Dov, Kayser, Matthew S., Tan, Tiong Yang, Deardorff, Matthew A., Song, Yuanquan, Hakonarson, Hakon

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SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling Autor Lin, Yuh-Charn, Niceta, Marcello, Muto, Valentina, Vona, Barbara, Pagnamenta, Alistair T., Maroofian, Reza, Beetz, Christian, van Duyvenvoorde, Hermine, Dentici, Maria Lisa, Lauffer, Peter, Vallian, Sadeq, Ciolfi, Andrea, Pizzi, Simone, Bauer, Peter, Grüning, Nana-Maria, Bellacchio, Emanuele, Del Fattore, Andrea, Petrini, Stefania, Shaheen, Ranad, Tiosano, Dov, Halloun, Rana, Pode-Shakked, Ben, Albayrak, Hatice Mutlu, Işık, Emregül, Wit, Jan M., Dittrich, Marcus, Freire, Bruna L., Bertola, Debora R., Jorge, Alexander A.L., Barel, Ortal, Sabir, Ataf H., Al Tenaiji, Amal M.J., Taji, Sulaima M., Al-Sannaa, Nouriya, Al-Abdulwahed, Hind, Digilio, Maria Cristina, Irving, Melita, Anikster, Yair, Bhavani, Gandham S.L., Girisha, Katta M., Haaf, Thomas, Taylor, Jenny C., Dallapiccola, Bruno, Alkuraya, Fowzan S., Yang, Ruey-Bing, Tartaglia, Marco

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