Результаты поиска - Ityel, Hadas

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report по van der Ven, Amelie T., Shril, Shirlee, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Laricchia, Kristen M., Lek, Monkol, Tasic, Velibor, Hildebrandt, Friedhelm

Полный текст Полный текст Полный текст

A Dominant Negative Heterozygous G87R Mutation in the Zinc Transporter, ZnT-2 (SLC30A2), Results in Transient Neonatal Zinc Deficiency по Lasry, Inbal, Seo, Young Ah, Ityel, Hadas, Shalva, Nechama, Pode-Shakked, Ben, Glaser, Fabian, Berman, Bluma, Berezovsky, Igor, Goncearenco, Alexander, Klar, Aharon, Levy, Jacob, Anikster, Yair, Kelleher, Shannon L., Assaraf, Yehuda G.

Полный текст Полный текст Полный текст

Exome sequencing in Jewish and Arabic patients with rhabdomyolysis reveals single-gene etiology in 43% of cases по Vivante, Asaf, Ityel, Hadas, Pode-Shakked, Ben, Chen, Jing, Shril, Shirlee, van der Ven, Amelie T., Mann, Nina, Schmidt, Johanna Magdalena, Segel, Reeval, Aran, Adi, Zeharia, Avraham, Staretz-Chacham, Orna, Bar-Yosef, Omer, Raas-Rothschild, Annick, Landau, Yuval E., Lifton, Richard P., Anikster, Yair, Hildebrandt, Friedhelm

Полный текст Полный текст Полный текст

A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux по van der Ven, Amelie T., Kobbe, Birgit, Kohl, Stefan, Shril, Shirlee, Pogoda, Hans-Martin, Imhof, Thomas, Ityel, Hadas, Vivante, Asaf, Chen, Jing, Hwang, Daw-Yang, Connaughton, Dervla M., Mann, Nina, Widmeier, Eugen, Taglienti, Mary, Schmidt, Johanna Magdalena, Nakayama, Makiko, Senguttuvan, Prabha, Kumar, Selvin, Tasic, Velibor, Kehinde, Elijah O., Mane, Shrikant M., Lifton, Richard P., Soliman, Neveen, Lu, Weining, Bauer, Stuart B., Hammerschmidt, Matthias, Wagener, Raimund, Hildebrandt, Friedhelm

Полный текст Полный текст Полный текст

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling по Vivante, Asaf, Mann, Nina, Yonath, Hagith, Weiss, Anna-Carina, Getwan, Maike, Kaminski, Michael M., Bohnenpoll, Tobias, Teyssier, Catherine, Chen, Jing, Shril, Shirlee, van der Ven, Amelie T., Ityel, Hadas, Schmidt, Johanna Magdalena, Widmeier, Eugen, Bauer, Stuart B., Sanna-Cherchi, Simone, Gharavi, Ali G., Lu, Weining, Magen, Daniella, Shukrun, Rachel, Lifton, Richard P., Tasic, Velibor, Stanescu, Horia C., Cavaillès, Vincent, Kleta, Robert, Anikster, Yair, Dekel, Benjamin, Kispert, Andreas, Lienkamp, Soeren S., Hildebrandt, Friedhelm

Полный текст Полный текст Полный текст

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations по Mann, Nina, Kause, Franziska, Henze, Erik K., Gharpure, Anant, Shril, Shirlee, Connaughton, Dervla M., Nakayama, Makiko, Klämbt, Verena, Majmundar, Amar J., Wu, Chen-Han W., Kolvenbach, Caroline M., Dai, Rufeng, Chen, Jing, van der Ven, Amelie T., Ityel, Hadas, Tooley, Madeleine J., Kari, Jameela A., Bownass, Lucy, El Desoky, Sherif, De Franco, Elisa, Shalaby, Mohamed, Tasic, Velibor, Bauer, Stuart B., Lee, Richard S., Beckel, Jonathan M., Yu, Weiqun, Mane, Shrikant M., Lifton, Richard P., Reutter, Heiko, Ellard, Sian, Hibbs, Ryan E., Kawate, Toshimitsu, Hildebrandt, Friedhelm

Полный текст Полный текст Полный текст

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients по Mann, Nina, Braun, Daniela A., Amann, Kassaundra, Tan, Weizhen, Shril, Shirlee, Connaughton, Dervla M., Nakayama, Makiko, Schneider, Ronen, Kitzler, Thomas M., van der Ven, Amelie T., Chen, Jing, Ityel, Hadas, Vivante, Asaf, Majmundar, Amar J., Daga, Ankana, Warejko, Jillian K., Lovric, Svjetlana, Ashraf, Shazia, Jobst-Schwan, Tilman, Widmeier, Eugen, Hugo, Hannah, Mane, Shrikant M., Spaneas, Leslie, Somers, Michael J.G., Ferguson, Michael A., Traum, Avram Z., Stein, Deborah R., Baum, Michelle A., Daouk, Ghaleb H., Lifton, Richard P., Manzi, Shannon, Vakili, Khashayar, Kim, Heung Bae, Rodig, Nancy M., Hildebrandt, Friedhelm

Полный текст Полный текст Полный текст

Monogenic causes of chronic kidney disease in adults по Connaughton, Dervla M., Kennedy, Claire, Shril, Shirlee, Mann, Nina, Murray, Susan L., Williams, Patrick A., Conlon, Eoin, Nakayama, Makiko, van der Ven, Amelie T., Ityel, Hadas, Kause, Franziska, Kolvenbach, Caroline M., Dai, Rufeng, Vivante, Asaf, Braun, Daniela A., Schneider, Ronen, Kitzler, Thomas M., Moloney, Brona, Moran, Conor P., Smyth, John S., Kennedy, Alan, Benson, Katherine, Stapleton, Caragh, Denton, Mark, Magee, Colm, O’Seaghdha, Conall M., Plant, William D., Griffin, Matthew D., Awan, Atif, Sweeney, Clodagh, Mane, Shrikant M., Lifton, Richard P., Griffin, Brenda, Leavey, Sean, Casserly, Liam, de Freitas, Declan G., Holian, John, Dorman, Anthony, Doyle, Brendan, Lavin, Peter J., Little, Mark A., Conlon, Peter J., Hildebrandt, Friedhelm

Полный текст Полный текст Полный текст

Paralog Studies Augment Gene Discovery: DDX and DHX Genes по Paine, Ingrid, Posey, Jennifer E., Grochowski, Christopher M., Jhangiani, Shalini N., Rosenheck, Sarah, Kleyner, Robert, Marmorale, Taylor, Yoon, Margaret, Wang, Kai, Robison, Reid, Cappuccio, Gerarda, Pinelli, Michele, Magli, Adriano, Coban Akdemir, Zeynep, Hui, Joannie, Yeung, Wai Lan, Wong, Bibiana K.Y., Ortega, Lucia, Bekheirnia, Mir Reza, Bierhals, Tatjana, Hempel, Maja, Johannsen, Jessika, Santer, René, Aktas, Dilek, Alikasifoglu, Mehmet, Bozdogan, Sevcan, Aydin, Hatip, Karaca, Ender, Bayram, Yavuz, Ityel, Hadas, Dorschner, Michael, White, Janson J., Wilichowski, Ekkehard, Wortmann, Saskia B., Casella, Erasmo B., Kitajima, Joao Paulo, Kok, Fernando, Monteiro, Fabiola, Muzny, Donna M., Bamshad, Michael, Gibbs, Richard A., Sutton, V. Reid, Van Esch, Hilde, Brunetti-Pierri, Nicola, Hildebrandt, Friedhelm, Brautbar, Ariel, Van den Veyver, Ignatia B., Glass, Ian, Lessel, Davor, Lyon, Gholson J., Lupski, James R.

Полный текст Полный текст Полный текст

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome по Warejko, Jillian K., Tan, Weizhen, Daga, Ankana, Schapiro, David, Lawson, Jennifer A., Shril, Shirlee, Lovric, Svjetlana, Ashraf, Shazia, Rao, Jia, Hermle, Tobias, Jobst-Schwan, Tilman, Widmeier, Eugen, Majmundar, Amar J., Schneider, Ronen, Gee, Heon Yung, Schmidt, J. Magdalena, Vivante, Asaf, van der Ven, Amelie T., Ityel, Hadas, Chen, Jing, Sadowski, Carolin E., Kohl, Stefan, Pabst, Werner L., Nakayama, Makiko, Somers, Michael J.G., Rodig, Nancy M., Daouk, Ghaleb, Baum, Michelle, Stein, Deborah R., Ferguson, Michael A., Traum, Avram Z., Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan, Zenker, Martin, Bakkaloglu, Sevcan A., Müller, Dominik, Noyan, Aytul, Ozaltin, Fatih, Cadnapaphornchai, Melissa A., Hashmi, Seema, Hopcian, Jeffrey, Kopp, Jeffrey B., Benador, Nadine, Bockenhauer, Detlef, Bogdanovic, Radovan, Stajić, Nataša, Chernin, Gil, Ettenger, Robert, Fehrenbach, Henry, Kemper, Markus, Munarriz, Reyner Loza, Podracka, Ludmila, Büscher, Rainer, Serdaroglu, Erkin, Tasic, Velibor, Mane, Shrikant, Lifton, Richard P., Braun, Daniela A., Hildebrandt, Friedhelm

Полный текст Полный текст Полный текст

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract по van der Ven, Amelie T., Connaughton, Dervla M., Ityel, Hadas, Mann, Nina, Nakayama, Makiko, Chen, Jing, Vivante, Asaf, Hwang, Daw-yang, Schulz, Julian, Braun, Daniela A., Schmidt, Johanna Magdalena, Schapiro, David, Schneider, Ronen, Warejko, Jillian K., Daga, Ankana, Majmundar, Amar J., Tan, Weizhen, Jobst-Schwan, Tilman, Hermle, Tobias, Widmeier, Eugen, Ashraf, Shazia, Amar, Ali, Hoogstraaten, Charlotte A., Hugo, Hannah, Kitzler, Thomas M., Kause, Franziska, Kolvenbach, Caroline M., Dai, Rufeng, Spaneas, Leslie, Amann, Kassaundra, Stein, Deborah R., Baum, Michelle A., Somers, Michael J.G., Rodig, Nancy M., Ferguson, Michael A., Traum, Avram Z., Daouk, Ghaleb H., Bogdanović, Radovan, Stajić, Natasa, Soliman, Neveen A., Kari, Jameela A., El Desoky, Sherif, Fathy, Hanan M., Milosevic, Danko, Al-Saffar, Muna, Awad, Hazem S., Eid, Loai A., Selvin, Aravind, Senguttuvan, Prabha, Sanna-Cherchi, Simone, Rehm, Heidi L., MacArthur, Daniel G., Lek, Monkol, Laricchia, Kristen M., Wilson, Michael W., Mane, Shrikant M., Lifton, Richard P., Lee, Richard S., Bauer, Stuart B., Lu, Weining, Reutter, Heiko M., Tasic, Velibor, Shril, Shirlee, Hildebrandt, Friedhelm

Полный текст Полный текст Полный текст

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations по Connaughton, Dervla M., Dai, Rufeng, Owen, Danielle J., Marquez, Jonathan, Mann, Nina, Graham-Paquin, Adda L., Nakayama, Makiko, Coyaud, Etienne, Laurent, Estelle M.N., St-Germain, Jonathan R., Blok, Lot Snijders, Vino, Arianna, Klämbt, Verena, Deutsch, Konstantin, Wu, Chen-Han Wilfred, Kolvenbach, Caroline M., Kause, Franziska, Ottlewski, Isabel, Schneider, Ronen, Kitzler, Thomas M., Majmundar, Amar J., Buerger, Florian, Onuchic-Whitford, Ana C., Youying, Mao, Kolb, Amy, Salmanullah, Daanya, Chen, Evan, van der Ven, Amelie T., Rao, Jia, Ityel, Hadas, Seltzsam, Steve, Rieke, Johanna M., Chen, Jing, Vivante, Asaf, Hwang, Daw-Yang, Kohl, Stefan, Dworschak, Gabriel C., Hermle, Tobias, Alders, Mariëlle, Bartolomaeus, Tobias, Bauer, Stuart B., Baum, Michelle A., Brilstra, Eva H., Challman, Thomas D., Zyskind, Jacob, Costin, Carrie E., Dipple, Katrina M., Duijkers, Floor A., Ferguson, Marcia, Fitzpatrick, David R., Fick, Roger, Glass, Ian A., Hulick, Peter J., Kline, Antonie D., Krey, Ilona, Kumar, Selvin, Lu, Weining, Marco, Elysa J., Wentzensen, Ingrid M., Mefford, Heather C., Platzer, Konrad, Povolotskaya, Inna S., Savatt, Juliann M., Shcherbakova, Natalia V., Senguttuvan, Prabha, Squire, Audrey E., Stein, Deborah R., Thiffault, Isabelle, Voinova, Victoria Y., Somers, Michael J.G., Ferguson, Michael A., Traum, Avram Z., Daouk, Ghaleb H., Daga, Ankana, Rodig, Nancy M., Terhal, Paulien A., van Binsbergen, Ellen, Eid, Loai A., Tasic, Velibor, Rasouly, Hila Milo, Lim, Tze Y., Ahram, Dina F., Gharavi, Ali G., Reutter, Heiko M., Rehm, Heidi L., MacArthur, Daniel G., Lek, Monkol, Laricchia, Kristen M., Lifton, Richard P., Xu, Hong, Mane, Shrikant M., Sanna-Cherchi, Simone, Sharrocks, Andrew D., Raught, Brian, Fisher, Simon E., Bouchard, Maxime, Khokha, Mustafa K., Shril, Shirlee, Hildebrandt, Friedhelm

Полный текст Полный текст Полный текст