Výsledky vyhledávání - Reeval Segel

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  1. 1
    Dr. Segel and colleagues reply

    Dr. Segel and colleagues reply Autor Reeval Segel, Mary‐Claire King, Ephrat Levy‐Lahad

    Vydáno 2014
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  2. 2
    Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Is Caused by a Mutation in the VRK1 Gene

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

    Vydáno 2009
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  3. 3
    Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

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

    Vydáno 2011
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  4. 4
    Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

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

    Vydáno 2009
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  5. 5
    Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy

    Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy Autor Daniel Backenroth, Fouad Zahdeh, Yehuda Kling, Aharon Peretz, Tzvia Rosen, Dina Kort, Sharon Zeligson, Tal Dror, Sophie Kirshberg, Efrat Burak, Reeval Segel, Ephrat Levy‐Lahad, David Zangen, Gheona Altarescu, Shai Carmi, David A. Zeevi

    Vydáno 2018
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  6. 6
    New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish

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

    Vydáno 2010
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  7. 7
    Essential Role of<i>BRCA2</i>in Ovarian Development and Function

    Essential Role of<i>BRCA2</i>in Ovarian Development and Function Autor Ariella Weinberg‐Shukron, Marianna Rachmiel, Paul Renbaum, Süleyman Gülsüner, Tom Walsh, Orit Lobel, Amatzia Dreifuss, Avital Ben-Moshe, Sharon Zeligson, Reeval Segel, Tikva Shorê, Rachel Kalifa, Michal Goldberg, Mary‐Claire King, Offer Gerlitz, Ephrat Levy‐Lahad, David Zangen

    Vydáno 2018
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  8. 8
    Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

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

    Vydáno 2017
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  9. 9
    Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

    Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy Autor Paulina Navon Elkan, Sarah B. Pierce, Reeval Segel, Tom Walsh, Judith Barash, Shai Padeh, Abraham Zlotogorski, Yackov Berkun, Joseph J. Press, M Mukamel, Isabel Voth, Philip J. Hashkes, Liora Harel, Vered Hoffer, Eduard Ling, Fatoş Yalçınkaya, Özgür Kasapçopur, Ming K. Lee, Rachel E. Klevit, Paul Renbaum, Ariella Weinberg‐Shukron, Elif Funda Şener, Barbara Schormair, Sharon Zeligson, Dina Marek‐Yagel, Tim M. Strom, Mordechai Shohat, Amihood Singer, Alan Rubinow, Elon Pras, Juliane Winkelmann, Mustafa Tekin, Yair Anikster, Mary‐Claire King, Ephrat Levy‐Lahad

    Vydáno 2014
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  10. 10
    Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

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

    Vydáno 2012
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  11. 11
    National Rapid Genome Sequencing in Neonatal Intensive Care

    National Rapid Genome Sequencing in Neonatal Intensive Care Autor Daphna Marom, Adi Mory, Sivan Reytan-Miron, Yam Amir, Alina Kurolap, Julia Grinshpun Cohen, Yocheved Morhi, Tatiana Smolkin, Lior Cohen, Shmuel Zangen, Adel Shalata, Arieh Riskin, Amir Peleg, Karen Lavie‐Nevo, Dror Mandel, Elana Chervinsky, Clari Felszer Fisch, Vered Fleisher Sheffer, Tzipora C. Falik‐Zaccai, Jonathan Rips, Noa Ofek Shlomai, Smadar Eventov Friedman, Calanit Hershkovich Shporen, Sagie Josefsberg Ben-Yehoshua, Aryeh Simmonds, Racheli Goldfarb Yaacobi, Sofia Bauer‐Rusek, Hussam Omari, Karin Weiss, Ori Hochwald, Arie Koifman, Omer Globus, Nurit Assia Batzir, Naveh Yaron, Reeval Segel, Iris Morag, Orit Reish, Aviva Eliyahu, Leah Leibovitch, Marina Eskin Schwartz, Ramy Abramsky, Amit Hochberg, Anat Oron, Ehud Banne, Igor Portnov, Nadra Nasser Samra, Amihood Singer, Hagit Baris Feldman

    Vydáno 2024
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