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Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta
od Wilton, Katelynn M., Gunderson, Lauren B., Hasadsri, Linda, Wood, Christopher P., Schimmenti, Lisa A.
Izdano u Mol Genet Genomic Med (2020)
Preuzmi cijeli tekstIzdano u Mol Genet Genomic Med (2020)
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od Nasr, Samih H., Dasari, Surendra, Hasadsri, Linda, Theis, Jason D., Vrana, Julie A., Gertz, Morie A., Muppa, Prasuna, Zimmermann, Michael T., Grogg, Karen L., Dispenzieri, Angela, Sethi, Sanjeev, Highsmith, W. Edward, Merlini, Giampaolo, Leung, Nelson, Kurtin, Paul J.
Izdano u J Am Soc Nephrol (2017)
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od Blackburn, Patrick R., Schultz, Matthew J., Lahner, Carrie A., Li, Dong, Bhoj, Elizabeth, Fisher, Laura J., Renaud, Deborah L., Kenney, Amy, Ibrahim, Niema, Hashem, Mais, Zain Seidahmed, Mohammed, Hasadsri, Linda, Schrier Vergano, Samantha A., Alkuraya, Fowzan S., Lanpher, Brendan C.
Izdano u Ann Clin Transl Neurol (2020)
Preuzmi cijeli tekstIzdano u Ann Clin Transl Neurol (2020)
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od Oza, Andrea M., DiStefano, Marina T., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Shen, Jun, Chapin, Alex, Boczek, Nicole J., Schimmenti, Lisa A., Murry, Jaclyn B., Hasadsri, Linda, Nara, Kiyomitsu, Kenna, Margaret, Booth, Kevin T., Azaiez, Hela, Griffith, Andrew, Avraham, Karen B., Kremer, Hannie, Rehm, Heidi L., Amr, Sami S., Tayoun, Ahmad N. Abou
Izdano u Hum Mutat (2018)
Preuzmi cijeli tekstIzdano u Hum Mutat (2018)
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od Cannata Serio, Magda, Graham, Laurie A., Ashikov, Angel, Larsen, Lars Elmann, Raymond, Kimiyo, Timal, Sharita, Le Meur, Gwenn, Ryan, Margret, Czarnowska, Elzbieta, Jansen, Jos C., He, Miao, Ficicioglu, Can, Pichurin, Pavel, Hasadsri, Linda, Minassian, Berge, Rugierri, Alessandra, Kalimo, Hannu, Ríos‐Ocampo, W. Alfredo, Gilissen, Christian, Rodenburg, Richard, Jonker, Johan W., Holleboom, Adriaan G., Morava, Eva, Veltman, Joris A., Socha, Piotr, Stevens, Tom H., Simons, Matias, Lefeber, Dirk J.
Izdano u Hepatology (2020)
Preuzmi cijeli tekstIzdano u Hepatology (2020)
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od Cousin, Margot A., Conboy, Erin, Wang, Jian-She, Lenz, Dominic, Schwab, Tanya L., Williams, Monique, Abraham, Roshini S., Barnett, Sarah, El-Youssef, Mounif, Graham, Rondell P., Gutierrez Sanchez, Luz Helena, Hasadsri, Linda, Hoffmann, Georg F., Hull, Nathan C., Kopajtich, Robert, Kovacs-Nagy, Reka, Li, Jia-qi, Marx-Berger, Daniela, McLin, Valérie, McNiven, Mark A., Mounajjed, Taofic, Prokisch, Holger, Rymen, Daisy, Schulze, Ryan J., Staufner, Christian, Yang, Ye, Clark, Karl J., Lanpher, Brendan C., Klee, Eric W.
Izdano u Am J Hum Genet (2019)
Preuzmi cijeli tekstIzdano u Am J Hum Genet (2019)
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od Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
Izdano u Eur J Hum Genet (2020)
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