检索结果 - Segel, Reeval
- Showing 1 - 14 results of 14
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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? 由 Rotshenker-Olshinka, Keren, Srebnik Moshe, Naama, Weiss, Omri, Shaviv, Shira, Freireich, Orit, Segel, Reeval, Zeligson, Sharon, Eldar-Geva, Talia, Altarescu, Gheona
出版 2021Text -
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Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome 由 Belostotsky, Ruth, Ben-Shalom, Efrat, Rinat, Choni, Becker-Cohen, Rachel, Feinstein, Sofia, Zeligson, Sharon, Segel, Reeval, Elpeleg, Orly, Nassar, Suheir, Frishberg, Yaacov
出版 2011Text -
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Acute Infantile Liver Failure Due to Mutations in the TRMU Gene 由 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
出版 2009Text -
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Acute Infantile Liver Failure Due to Mutations in the TRMU Gene 由 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
出版 2010Text -
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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 由 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
出版 2010Text -
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Vesicular acetylcholine transporter defect underlies devastating congenital myasthenia syndrome 由 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
出版 2017Text -
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Essential Role of BRCA2 in Ovarian Development and Function 由 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
出版 2018Text -
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Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection 由 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
出版 2016Text -
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Exome sequencing in Jewish and Arabic patients with rhabdomyolysis reveals single-gene etiology in 43% of cases 由 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
出版 2017Text -
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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... 由 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.
出版 2018Text -
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Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia 由 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.
出版 2017Text -
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Brain calcifications and PCDH12 variants 由 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.
出版 2017Text -
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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 由 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.
出版 2013Text