Výsledky vyhledávání - Elon Pras

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  1. 1
    Close association of HLA-B51 and B52 in Israeli patients with Behcet's syndrome.

    Close association of HLA-B51 and B52 in Israeli patients with Behcet's syndrome. Autor Nadir Arber, Teri E. Klein, Zeev Meiner, Elon Pras, Abraham Weinberger

    Vydáno 1991
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  2. 2
    Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome

    Deleterious Mutations in the Zinc-Finger 469 Gene Cause Brittle Cornea Syndrome Autor Almogit Abu, Moshe Frydman, Dina Marek, Eran Pras, Uri Nir, Haike Reznik‐Wolf, Elon Pras

    Vydáno 2008
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  3. 3
    Mapping of a Gene Causing Familial Mediterranean Fever to the Short Arm of Chromosome 16

    Mapping of a Gene Causing Familial Mediterranean Fever to the Short Arm of Chromosome 16 Autor Elon Pras, Ivona Aksentijevich, Luis Gruberg, James E. Balow, Leandrea Prosen, Michael Dean, Alfred D. Steinberg, Mordechai Pras, Daniel L. Kastner

    Vydáno 1992
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  4. 4
    A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family

    A Missense Mutation in the LIM2 Gene Is Associated with Autosomal Recessive Presenile Cataract in an Inbred Iraqi Jewish Family Autor Eran Pras, Etgar Levy‐Nissenbaum, Tangiz Bakhan, Hadas Lahat, Ehud I. Assia, Noa Geffen-Carmi, Moshe Frydman, Boleslaw Goldman, Elon Pras

    Vydáno 2002
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  5. 5
    Autosomal Recessive Catecholamine- or Exercise-Induced Polymorphic Ventricular Tachycardia

    Autosomal Recessive Catecholamine- or Exercise-Induced Polymorphic Ventricular Tachycardia Autor Hadas Lahat, Michael Eldar, Etgar Levy‐Nissenbaum, Tangiz Bahan, Eitan Friedman, Asad Khoury, Avraham Lorber, Daniel L. Kastner, Boleslaw Goldman, Elon Pras

    Vydáno 2001
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  6. 6
    A Novel Mutation in the <i>HCN4</i> Gene Causes Symptomatic Sinus Bradycardia in Moroccan Jews

    A Novel Mutation in the <i>HCN4</i> Gene Causes Symptomatic Sinus Bradycardia in Moroccan Jews Autor Avishag Laish‐Farkash, Michael Glikson, Dovrat Brass, Dina Marek‐Yagel, Elon Pras, Nathan Dascal, Charles Antzelevitch, Eyal Nof, HAYA REZNIK, Michael Eldar, David Luria

    Vydáno 2010
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  7. 7
    An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis

    An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Autor Abraham Zlotogorski, Dina Marek, Liran Horev, Almogit Abu, Dan Ben‐Amitai, Liora Gerad, Arieh Ingber, Moshe Frydman, Haike Reznik‐Wolf, Daniel Vardy, Elon Pras

    Vydáno 2006
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  8. 8
    Pacemaker Endocarditis Report of 44 Cases and Review of the Literature

    Pacemaker Endocarditis Report of 44 Cases and Review of the Literature Autor Nadir Arber, Elon Pras, Yitschak Copperman, Jonathan M. Schapiro, Vardiela Meiner, Izidore S. Lossos, Arie Militianu, David Hassin, Eran Pras, Avi Shai, Menachem Moshkowitz, Yechezkel Sidi

    Vydáno 1994
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  9. 9
    Anakinra for Colchicine‐Resistant Familial Mediterranean Fever: A Randomized, Double‐Blind, Placebo‐Controlled Trial

    Anakinra for Colchicine‐Resistant Familial Mediterranean Fever: A Randomized, Double‐Blind, Placebo‐Controlled Trial Autor Ilan Ben‐Zvi, Olga Kukuy, Eitan Giat, Elon Pras, Olga Feld, Shaye Kivity, Oleg Perski, Gil Bornstein, Chagai Grossman, Gil Harari, Merav Lidar, Avi Livneh

    Vydáno 2016
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  10. 10
    A Missense Mutation in a Highly Conserved Region of CASQ2 Is Associated with Autosomal Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia in Bedouin Families from Israel

    A Missense Mutation in a Highly Conserved Region of CASQ2 Is Associated with Autosomal Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia in Bedouin Families from... Autor Hadas Lahat, Elon Pras, Tsviya Olender, Nili Avidan, Edna Ben‐Asher, Orna Man, Etgar Levy‐Nissenbaum, Asad Khoury, Avraham Lorber, Boleslaw Goldman, Doron Lancet, Michael Eldar

    Vydáno 2001
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  11. 11
    Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

    Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts Autor Jianjun Chen, Zhiwei Ma, Xiaodong Jiao, Robert N. Fariss, Wanda Lee Kantorow, Marc Kantorow, Eran Pras, Moshe Frydman, Elon Pras, Sheikh Riazuddin, Sheikh Riazuddin, J. Fielding Hejtmancik

    Vydáno 2011
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  12. 12
    Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal New Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi Jewish Population

    Mutation and Haplotype Studies of Familial Mediterranean Fever Reveal New Ancestral Relationships and Evidence for a High Carrier Frequency with Reduced Penetrance in the Ashkenazi... Autor Ivona Aksentijevich, Yelizaveta Torosyan, Jonathan Samuels, Michael Centola, Elon Pras, Jae Jin Chae, Carole Oddoux, Geryl Wood, Maria Pia Azzaro, Giuseppe A. Palumbo, Rosario Giustolisi, Mordechai Pras, Harry Ostrer, Daniel L. Kastner

    Vydáno 1999
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  13. 13
    Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families

    Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families Autor Lior Greenbaum, Ben Pode‐Shakked, Shlomit Eisenberg‐Barzilai, Michal Dicastro-Keidar, Anat Bar-Ziv, Nurit Goldstein, Haike Reznik‐Wolf, Hana Poran, Amihai Rigbi, Ortal Barel, Aida M. Bertoli‐Avella, Peter Bauer, Miriam Regev, Annick Raas‐Rothschild, Elon Pras, Michal Berkenstadt

    Vydáno 2019
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  14. 14
    Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers

    Comparison between SLC3A1 and SLC7A9 Cystinuria Patients and Carriers Autor Luca Dello Strologo, Elon Pras, C. Pontesilli, Ercole Beccia, Vittorino Ricci-Barbini, Luisa De Sanctis, Alberto Ponzone, Michele Gallucci, Luigi Bisceglia, Leopoldo Zelante, Maite Jiménez-Vidal, Mariona Font, António Zorzano, F. Rousaud, Virginia Nunes, Paolo Gasparini, Manuel PalaciCombining Acute Accentn, Gianfranco Rizzoni

    Vydáno 2002
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  15. 15
    Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis

    Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis Autor Danit Oz-Levi, Bruria Ben‐Zeev, Elizabeth K. Ruzzo, Yuki Hitomi, Amir Gelman, Kimberly Pelak, Yair Anikster, Haike Reznik‐Wolf, Ifat Bar-Joseph, Tsviya Olender, Anna Alkelai, Meira Weiss, Edna Ben‐Asher, Dongliang Ge, Kevin V. Shianna, Zvulun Elazar, David B. Goldstein, Elon Pras, Doron Lancet

    Vydáno 2012
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  16. 16
    Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria

    Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria Autor Mariona Font, Lídia Feliubadaló, Xavier Estivill, Virginia Nunes, Eliahu Golomb, Yitshak Kreiss, Elon Pras, Luigi Bisceglia, Pio D’Adamo, Leopoldo Zelante, Paolo Gasparini, Maria Teresa Bassi, Alfred L. George, Marta Manzoni, Mirko Riboni, Andrea Ballabio, Giuseppe Borsani, Núria Reig, Esperanza Fernández, António Zorzano, Joan Bertran, Manuel Palacı́n

    Vydáno 2001
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  17. 17
    Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

    Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios Autor Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K. Ruzzo, Yifan Lu, K. Melodi McSweeney, Bruria Ben‐Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi, Ryan S. Dhindsa, Yuki Hitomi, Kelly Schoch, Rebecca C. Spillmann, Gali Heimer, Dina Marek‐Yagel, Michal Tzadok, Yujun Han, Gordon Worley, Jennifer Goldstein, Yong‐hui Jiang, Doron Lancet, Elon Pras, Vandana Shashi, Duncan McHale, Anna C. Need, David B. Goldstein

    Vydáno 2015
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  18. 18
    Mutations in <i>STN1</i> cause Coats plus syndrome and are associated with genomic and telomere defects

    Mutations in <i>STN1</i> cause Coats plus syndrome and are associated with genomic and telomere defects Autor Amos J. Simon, Atar Lev, Yong Zhang, Batia Weiss, Anna Rylova, Eran Eyal, Nitzan Kol, Ortal Barel, Keren Cesarkas, Michalle Soudack, Noa Greenberg‐Kushnir, Michele Rhodes, David L. Wiest, Ginette Schiby, Iris Barshack, Shulamit Katz, Elon Pras, Hana Poran, Haike Reznik‐Wolf, Elena Ribakovsky, Carlos Simón, Wadi Hazou, Yechezkel Sidi, Avishay Lahad, Hagar Katzir, Shira Sagie, Haifa A. Aqeilan, Galina Glousker, Ninette Amariglio, Yehuda Tzfati, Sara Selig, Gideon Rechavi, Raz Somech

    Vydáno 2016
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  19. 19
    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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  20. 20
    Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

    Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy Autor Elizabeth K. Ruzzo, José‐Mario Capo‐Chichi, Bruria Ben‐Zeev, David Chitayat, Hanqian Mao, Andrea L. Pappas, Yuki Hitomi, Yifan Lu, Xiaodi Yao, Fadi F. Hamdan, Kimberly Pelak, Haike Reznik‐Wolf, Ifat Bar-Joseph, Danit Oz-Levi, Dorit Lev, Tally Lerman‐Sagie, Esther Leshinsky‐Silver, Yair Anikster, Edna Ben‐Asher, Tsviya Olender, Laurence Colleaux, Jean‐Claude Décarie, Susan Blasér, Brenda Banwell, Rasesh B. Joshi, Xiao‐Ping He, Lysanne Patry, Rachel Silver, Sylvia Dobrzeniecka, Mohammad S. Islam, Abul Hasnat, Mark E. Samuels, Dipendra K. Aryal, Ramona M. Rodriguiz, Yong‐hui Jiang, William C. Wetsel, James O McNamara, Guy A. Rouleau, Debra L. Silver, Doron Lancet, Elon Pras, Grant A. Mitchell, Jacques L. Michaud, David B. Goldstein

    Vydáno 2013
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