Kết quả tìm kiếm - Segel, Reeval

Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene Bằng Renbaum, Paul, Kellerman, Efrat, Jaron, Ranit, Geiger, Dan, Segel, Reeval, Lee, Ming, King, Mary Claire, Levy-Lahad, Ephrat

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Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do? Bằng Rotshenker-Olshinka, Keren, Srebnik Moshe, Naama, Weiss, Omri, Shaviv, Shira, Freireich, Orit, Segel, Reeval, Zeligson, Sharon, Eldar-Geva, Talia, Altarescu, Gheona

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Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome Bằng Belostotsky, Ruth, Ben-Shalom, Efrat, Rinat, Choni, Becker-Cohen, Rachel, Feinstein, Sofia, Zeligson, Sharon, Segel, Reeval, Elpeleg, Orly, Nassar, Suheir, Frishberg, Yaacov

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Acute Infantile Liver Failure Due to Mutations in the TRMU Gene Bằng Zeharia, Avraham, Shaag, Avraham, Pappo, Orit, Mager-Heckel, Anne-Marie, Saada, Ann, Beinat, Marine, Karicheva, Olga, Mandel, Hanna, Ofek, Noa, Segel, Reeval, Marom, Daphna, Rötig, Agnes, Tarassov, Ivan, Elpeleg, Orly

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Acute Infantile Liver Failure Due to Mutations in the TRMU Gene Bằng Zeharia, Avraham, Shaag, Avraham, Pappo, Orit, Mager-Heckel, Anne-Marie, Saada, Ann, Beinat, Marine, Karicheva, Olga, Mandel, Hanna, Ofek, Noa, Segel, Reeval, Marom, Daphna, Rötig, Agnes, Tarassov, Ivan, Elpeleg, Orly

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New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish Bằng Morris-Rosendahl, Deborah J, Segel, Reeval, Born, A Peter, Conrad, Christoph, Loeys, Bart, Brooks, Susan Sklower, Müller, Laura, Zeschnigk, Christine, Botti, Christina, Rabinowitz, Ron, Uyanik, Gökhan, Crocq, Marc-Antoine, Kraus, Uwe, Degen, Ingrid, Faes, Fran

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Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome Bằng Aran, Adi, Segel, Reeval, Kaneshige, Kota, Gulsuner, Suleyman, Renbaum, Paul, Oliphant, Scott, Meirson, Tomer, Weinberg-Shukron, Ariella, Hershkovitz, Yair, Zeligson, Sharon, Lee, Ming K., Samson, Abraham O., Parsons, Stanley M., King, Mary-Claire, Levy-Lahad, Ephrat, Walsh, Tom

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Essential Role of BRCA2 in Ovarian Development and Function Bằng Weinberg-Shukron, Ariella, Rachmiel, Mariana, Renbaum, Paul, Gulsuner, Suleyman, Walsh, Tom, Lobel, Orit, Dreifuss, Amatzia, Ben-Moshe, Avital, Zeligson, Sharon, Segel, Reeval, Shore, Tikva, Kalifa, Rachel, Goldberg, Michal, King, Mary-Claire, Gerlitz, Offer, Levy-Lahad, Ephrat, Zangen, David

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Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection Bằng Aran, Adi, Rosenfeld, Nuphar, Jaron, Ranit, Renbaum, Paul, Zuckerman, Shachar, Fridman, Hila, Zeligson, Sharon, Segel, Reeval, Kohn, Yoav, Kamal, Lara, Kanaan, Moien, Segev, Yoram, Mazaki, Eyal, Rabinowitz, Ron, Shen, Ori, Lee, Ming, Walsh, Tom, King, Mary Claire, Gulsuner, Suleyman, Levy-Lahad, Ephrat

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Exome sequencing in Jewish and Arabic patients with rhabdomyolysis reveals single-gene etiology in 43% of cases Bằng 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

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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe dise... Bằng Kazi, Zoheb B., Desai, Ankit K., Troxler, R. Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Rizzo, William B., Scherer, Katalin, Abdul-Rahman, Omar, Tanpaiboon, Pranoot, Nampoothiri, Sheela, Gupta, Neerja, Feigenbaum, Annette, Niyazov, Dmitriy M., Langston, Sherry, Segel, Reeval, McVie-Wylie, Alison, Sung, Crystal, Joseph, Alexandra M., Richards, Susan, Kishnani, Priya S.

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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia Bằng Zambonin, Jessica L., Bellomo, Allison, Ben-Pazi, Hilla, Everman, David B., Frazer, Lee M., Geraghty, Michael T., Harper, Amy D., Jones, Julie R., Kamien, Benjamin, Kernohan, Kristin, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R., Gibbons, Melissa, Collins, Abigail, Fogel, Brent L., Dudding-Byth, Tracy, Boycott, Kym M.

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Brain calcifications and PCDH12 variants Bằng Nicolas, Gaël, Sanchez-Contreras, Monica, Ramos, Eliana Marisa, Lemos, Roberta R., Ferreira, Joana, Moura, Denis, Sobrido, Maria J., Richard, Anne-Claire, Lopez, Alma Rosa, Legati, Andrea, Deleuze, Jean-François, Boland, Anne, Quenez, Olivier, Krystkowiak, Pierre, Favrole, Pascal, Geschwind, Daniel H., Aran, Adi, Segel, Reeval, Levy-Lahad, Ephrat, Dickson, Dennis W., Coppola, Giovanni, Rademakers, Rosa, de Oliveira, João R.M.

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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen Bằng Schwarze, Ulrike, Cundy, Tim, Pyott, Shawna M., Christiansen, Helena E., Hegde, Madhuri R., Bank, Ruud A., Pals, Gerard, Ankala, Arunkanth, Conneely, Karen, Seaver, Laurie, Yandow, Suzanne M., Raney, Ellen, Babovic-Vuksanovic, Dusica, Stoler, Joan, Ben-Neriah, Ziva, Segel, Reeval, Lieberman, Sari, Siderius, Liesbeth, Al-Aqeel, Aida, Hannibal, Mark, Hudgins, Louanne, McPherson, Elizabeth, Clemens, Michele, Sussman, Michael D., Steiner, Robert D., Mahan, John, Smith, Rosemarie, Anyane-Yeboa, Kwame, Wynn, Julia, Chong, Karen, Uster, Tami, Aftimos, Salim, Sutton, V. Reid, Davis, Elaine C., Kim, Lammy S., Weis, Mary Ann, Eyre, David, Byers, Peter H.

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