検索結果 - Ruth Gershoni‐Baruch

結果の絞り込み
  1. 1
    Mutations in the Glucocerebrosidase Gene and Parkinson's Disease in Ashkenazi Jews

    Mutations in the Glucocerebrosidase Gene and Parkinson's Disease in Ashkenazi Jews 著者: Judith Aharon‐Peretz, Hanna Rosenbaum, Ruth Gershoni‐Baruch

    出版事項 2004
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  2. 2
    The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever

    The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever 著者: Ruth Gershoni‐Baruch, Riva Brik, Marwan Shinawi, Avi Livneh

    出版事項 2002
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  3. 3
    Familial Mediterranean fever: prevalence, penetrance and genetic drift

    Familial Mediterranean fever: prevalence, penetrance and genetic drift 著者: Ruth Gershoni‐Baruch, Marwan Shinawi, L Kasinetz, Khader Badarnah, Riva Brik

    出版事項 2001
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  4. 4
    The R72P P53 mutation is associated with familial breast cancer in Jewish women

    The R72P P53 mutation is associated with familial breast cancer in Jewish women 著者: Tal Ohayon, Ruth Gershoni‐Baruch, Moshe Z. Papa, Tal Distelman Menachem, S Eisenberg Barzilai, Eitan Friedman

    出版事項 2005
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  5. 5
    Recurrent Severe Infections Caused by a Novel Leukocyte Adhesion Deficiency

    Recurrent Severe Infections Caused by a Novel Leukocyte Adhesion Deficiency 著者: Amos Etzioni, Moshe Frydman, Shimon Pollack, Israeli Avidor, M. Laurie Phillips, James C. Paulson, Ruth Gershoni‐Baruch

    出版事項 1992
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  6. 6
    Kindlin-3: a new gene involved in the pathogenesis of LAD-III

    Kindlin-3: a new gene involved in the pathogenesis of LAD-III 著者: Adi Mory, Sara W. Feigelson, Neşe Yaralı, Sara Şebnem Kılıç, Gülsüm İclal Bayhan, Ruth Gershoni‐Baruch, Amos Etzioni, R. Alon

    出版事項 2008
    全文の入手 全文の入手
    Carta
    お気に入りに追加
    保存先:
  7. 7
    SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

    SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4 著者: Hannah Mandel, Revital Shemer, Zvi Borochowitz, Marina Okopnik, Carlos Knopf, Margarita Indelman, Arie Drugan, Dov Tiosano, Ruth Gershoni‐Baruch, Mordechai Choder, Eli Sprecher

    出版事項 2008
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  8. 8
    A single nucleotide polymorphism in the <i>RAD51</i> gene modifies cancer risk in <i>BRCA2</i> but not <i>BRCA1</i> carriers

    A single nucleotide polymorphism in the <i>RAD51</i> gene modifies cancer risk in <i>BRCA2</i> but not <i>BRCA1</i> carriers 著者: Ephrat Levy‐Lahad, Amnon Lahad, Shlomit Eisenberg, Efrat Dagan, Tamar Paperna, L Kasinetz, Raphael Catane, Bella Kaufman, Uziel Beller, Paul Renbaum, Ruth Gershoni‐Baruch

    出版事項 2001
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  9. 9
    Leukocyte Adhesion Deficiency Type II is a generalized defect of de novo GDP-fucose biosynthesis. Endothelial cell fucosylation is not required for neutrophil rolling on human nonlymphoid endothelium.

    Leukocyte Adhesion Deficiency Type II is a generalized defect of de novo GDP-fucose biosynthesis. Endothelial cell fucosylation is not required for neutrophil rolling on human nonl... 著者: Aly Karsan, Carol Cornejo, Robert K. Winn, Barbara R. Schwartz, William Way, N Lannir, Ruth Gershoni‐Baruch, Amos Etzioni, Hans D. Ochs, John M. Harlan

    出版事項 1998
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  10. 10
    Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

    Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy 著者: Daniella Magen, Costa Georgopoulos, Peter Bross, Debbie Ang, Yardena Segev, Dorit Goldsher, Alexandra Nemirovski, Eli Shahar, Sarit Ravid, Anthony Luder, Bayan Heno, Ruth Gershoni‐Baruch, Karl Skorecki, Hanna Mandel

    出版事項 2008
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  11. 11
    Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3

    Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3 著者: Bettina Lorenz‐Depiereux, Anna Benet‐Pagès, Gertrud Eckstein, Yardena Tenenbaum‐Rakover, Janine Wagenstaller, Dov Tiosano, Ruth Gershoni‐Baruch, Norbert Albers, Peter Lichtner, Dirk Schnabel, Ze’ev Hochberg, Tim M. Strom

    出版事項 2006
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  12. 12
    Overall survival and clinical characteristics of pancreatic cancer in BRCA mutation carriers

    Overall survival and clinical characteristics of pancreatic cancer in BRCA mutation carriers 著者: Talia Golan, Zaheer Kanji, Ron Epelbaum, Nicholas Devaud, Efrat Dagan, Spring Holter, Dan Aderka, Shani Paluch‐Shimon, Brett A. Kaufman, Ruth Gershoni‐Baruch, David W. Hedley, Malcolm J. Moore, Eitan Friedman, Steven Gallinger

    出版事項 2014
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  13. 13
    Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population

    Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population 著者: Sharon Simchoni, Eitan Friedman, Bella Kaufman, Ruth Gershoni‐Baruch, Avi Orr‐Urtreger, Inbal Kedar‐Barnes, Ronit Shiri‐Sverdlov, Efrat Dagan, Sigal Tsabari, Mordechai Shohat, Raphael Catane, Mary‐Claire King, Amnon Lahad, Ephrat Levy‐Lahad

    出版事項 2006
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  14. 14
    Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations

    Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations 著者: Yael Laitman, Bing Feng, Itay Zamir, Jeffrey N. Weitzel, Paul R. Duncan, Danielle Port, Eswary Thirthagiri, Soo‐Hwang Teo, D. Gareth Evans, Ayşe Latif, William G. Newman, Ruth Gershoni‐Baruch, Jamal Zidan, Shani Shimon‐Paluch, David E. Goldgar, Eitan Friedman

    出版事項 2012
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  15. 15
    Breast-feeding and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers

    Breast-feeding and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers 著者: Helena Jernström, Jan Lubiński, Henry T. Lynch, P Ghadirian, Susan L. Neuhausen, Claudine Isaacs, Barbara L. Weber, Doug Horsman, Barry P. Rosen, William D. Foulkes, Eitan Friedman, Ruth Gershoni‐Baruch, Peter Ainsworth, M. Daly, Judy E. Garber, Håkan Olsson, Peng Sun, Steven A. Narod

    出版事項 2004
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  16. 16
    Breast Cancer Risk Following Bilateral Oophorectomy in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: An International Case-Control Study

    Breast Cancer Risk Following Bilateral Oophorectomy in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers: An International Case-Control Study 著者: Andrea Eisen, Jan Lubiński, Jan G.M. Klijn, Pål Møller, Henry T. Lynch, Kenneth Offit, Barbara Weber, Tim Rebbeck, Susan L. Neuhausen, Parviz Ghadirian, William D. Foulkes, Ruth Gershoni‐Baruch, Eitan Friedman, Gad Rennert, Teresa Wagner, Claudine Isaacs, Charmaine Kim‐Sing, Peter Ainsworth, Ping Sun, Steven A. Narod

    出版事項 2005
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  17. 17
    Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population

    Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population 著者: Judeh Abu Sa'd, Margarita Indelman, Ellen G Pfendner, Tzipora C. Falik‐Zaccai, Mordechai Mizrachi-Koren, Stavit A. Shalev, Dani Ben Amitai, Annick Raas-Rothshild, Ayelet Adir-Shani, Z Borochowitz, Ruth Gershoni‐Baruch, Morad Khayat, Daniela Landau, Gabriele Richard, Richard N. Bergman, Jouni Uitto, Moien Kanaan, Eli Sprecher

    出版事項 2006
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  18. 18
    Effect of pregnancy as a risk factor for breast cancer in <i>BRCA1</i>/<i>BRCA2</i> mutation carriers

    Effect of pregnancy as a risk factor for breast cancer in <i>BRCA1</i>/<i>BRCA2</i> mutation carriers 著者: Carey A. Cullinane, Jan Lubiński, Susan L. Neuhausen, Parviz Ghadirian, Henry T. Lynch, Claudine Isaacs, Barbara Weber, Pål Møller, Kenneth Offit, Charmaine Kim‐Sing, Eitan Friedman, Susan Randall, Barbara Pasini, Peter Ainsworth, Ruth Gershoni‐Baruch, William D. Foulkes, Jan G.M. Klijn, Nadine Tung, Gad Rennert, Olufunmilayo I. Olopade, Fergus J. Couch, Teresa Wagner, Håkan Olsson, Ping Sun, Jeffrey N. Weitzel, Steven A. Narod

    出版事項 2005
    全文の入手 全文の入手
    Artigo
    お気に入りに追加
    保存先:
  19. 19
    Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

    Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) 著者: Martin Zenker, Julia Mayerle, Markus M. Lerch, Andreas Tagariello, Klaus Zerres, Peter R. Durie, Matthias Beier, Georg Hülskamp, Celina Guzmán, Helga Rehder, Frits A. Beemer, Ben C.J. Hamel, P Vanlieferinghen, Ruth Gershoni‐Baruch, Marta Wey Vieira, Miroslav Dumić, Ron Auslender, Vera Lúcia Gil‐da‐Silva‐Lopes, Simone Steinlicht, Manfred Rauh, Stavit Shalev, Christian T. Thiel, Andreas Winterpacht, Yong Tae Kwon, Alexander Varshavsky, André Reis

    出版事項 2005
    全文の入手
    Artigo
    お気に入りに追加
    保存先:
  20. 20
    Haplotype and Phenotype Analysis of Nine Recurrent BRCA2 Mutations in 111 Families: Results of an International Study

    Haplotype and Phenotype Analysis of Nine Recurrent BRCA2 Mutations in 111 Families: Results of an International Study 著者: Susan L. Neuhausen, Andrew K. Godwin, Ruth Gershoni‐Baruch, Elizabeth L. Schubert, Judy E. Garber, Dominique Stoppa-Lyonnet, Edith Oláh, Béla Csókay, Olga Serova, Fiona Lalloo, Ana Osório, Michael R. Stratton, Kenneth Offit, Jeff Boyd, Maria A. Caligo, Rodney J. Scott, Andy Schofield, Eric Teugels, Manfred Schwab, Lisa Cannon‐Albright, D. Timothy Bishop, Douglas F. Easton, Javier Benı́tez, Mary‐Claire King, Bruce A.J. Ponder, Barbara Weber, Peter Devilee, Åke Borg, Steven A. Narod, David E. Goldgar

    出版事項 1998
    全文の入手
    Artigo
    お気に入りに追加
    保存先:

検索ツール: