Ngā hua rapu - Mordechai Shohat

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  1. 1
    Familial Mediterranean fever—A review

    Familial Mediterranean fever—A review mā Mordechai Shohat, Gabrielle J. Halpern

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
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  2. 2
    Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups

    Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups mā Nava Stoffman, Nurit Magal, Tamy Shohat, Rachel Lotan, S Koman, Assaf P. Oron, Yehuda L. Danon, Gabrielle J. Halpern, Y Lifshitz, Mordechai Shohat

    I whakaputaina 2000
    Whiwhi kuputuhi katoa
    Artigo
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  3. 3
    Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing

    Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing mā Zippora Brownstein, Amal Abu Rayyan, Daphne Karfunkel-Doron, Serena Sirigu, Bella Davidov, Mordechai Shohat, Moshe Frydman, Anne Houdusse, Moien Kanaan, Karen B. Avraham

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel

    Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel mā Hagit Toledano‐Alhadef, Lina Basel‐Vanagaite, Nurit Magal, Bella Davidov, Sophie Ehrlich, Valerie Drasinover, Ellen Taub, Gabrielle J. Halpern, Nathan Ginott, Mordechai Shohat

    I whakaputaina 2001
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses

    Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses mā Michal Levy, Shira Lifshitz, Mirela Goldenberg‐Fumanov, Lily Bazak, Rayna Joy Goldstein, Uri Hamiel, Rachel P. Berger, Shlomo Lipitz, Idit Maya, Mordechai Shohat

    I whakaputaina 2024
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Candidate Locus for a Nuclear Modifier Gene for Maternally Inherited Deafness

    Candidate Locus for a Nuclear Modifier Gene for Maternally Inherited Deafness mā Yelena Bykhovskaya, Xavier Estivill, Kent D. Taylor, Tieu Hang, Mélanie Hamon, Rosaria A.M.S. Casano, Huiying Yang, Jerome I. Rotter, Mordechai Shohat, Nathan Fischel‐Ghodsian

    I whakaputaina 2000
    Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations

    When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations mā Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon‐Fishman, Lital Cohen-Vig, Yael Goldberg, R Berger, Lina Basel‐Salmon, Mordechai Shohat

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase

    Autosomal Recessive Ichthyosis with Hypotrichosis Caused by a Mutation in ST14, Encoding Type II Transmembrane Serine Protease Matriptase mā Lina Basel‐Vanagaite, Revital Attia, Akemi Ishida‐Yamamoto, Limor Rainshtein, Dan Ben Amitai, Raziel Lurie, Metsada Pasmanik‐Chor, Margarita Indelman, Alex Zvulunov, Shirley Saban, Nurit Magal, Eli Sprecher, Mordechai Shohat

    I whakaputaina 2007
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

    Connexin26 mutations associated with the most common form of non- syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans mā Leopoldo Zelante, Paolo Gasparini, Xavier Estivill, Salvatore Melchionda, Leonardo D’Agruma, Nancy Govea, Monserrat Milá, Matteo Della Monica, Lutfi Jaber, Mordechai Shohat, Elaine Mansfield, Kathleen Delgrosso, Eric Rappaport, Saul Surrey, Paolo Fortina

    I whakaputaina 1997
    Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C

    Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C mā Eyal Reinstein, Ana Gutiérrez‐Fernández, Shay Tzur, Concetta Bormans, Shai Marcu, Einav Tayeb-Fligelman, Chana Vinkler, Annick Raas‐Rothschild, Dana Irge, Meytal Landau, Mordechai Shohat, Xosé S. Puente, Doron M. Behar, Carlos López‐Otín

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  11. 11
    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 mā 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

    I whakaputaina 2006
    Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Phenotype–genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis

    Phenotype–genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis mā Mordechai Shohat, Nurit Magal, Tami Shohat, Xi Chen, Tal Dagan, Aviva Mimouni-Bloch, Yehuda L. Danon, Rachel Lotan, Gönül Oğur, Aydan Şirin, M. Schlezinger, GJ Halpern, Arthur D. Schwabe, Daniel L. Kastner, JI Rotter, Nathan Fischel‐Ghodsian

    I whakaputaina 1999
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia

    Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia mā Adetutu T. Egunsola, Yangjin Bae, Ming-Ming Jiang, David S. Liu, Yuqing Chen-Evenson, Terry Bertin, Shan Chen, James T. Lu, Lisette Nevarez, Nurit Magal, Annick Raas‐Rothschild, Eric C. Swindell, Daniel H. Cohn, Richard A. Gibbs, Philippe M. Campeau, Mordechai Shohat, Brendan Lee

    I whakaputaina 2017
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

    Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease mā Ann Saada, Rutger O. Vogel, Saskia J.G. Hoefs, Mariël A. van den Brand, Hans J. C. T. Wessels, Peter H.G.M. Willems, Hanka Venselaar, Avraham Shaag, Flora Barghuti, Orit Reish, Mordechai Shohat, Martijn A. Huynen, Jan Smeitink, Lambert P. van den Heuvel, Leo Nijtmans

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

    Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1 mā Lina Basel‐Vanagaite, Noam Zevit, Adi Har Zahav, Liang Guo, Saj Parathath, Metsada Pasmanik‐Chor, Adam D. McIntyre, Jian Wang, Adi Albin‐Kaplanski, Corina Hartman, Daphna Marom, Avraham Zeharia, Abir Badir, Oded Shoerman, Amos J. Simon, Gideon Rechavi, Mordechai Shohat, Robert A. Hegele, Edward A. Fisher, Raanan Shamir

    I whakaputaina 2012
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

    Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum mā Lina Basel‐Vanagaite, Tova Hershkovitz, Eli Heyman, Miquel Raspall‐Chaure, Naseebullah Kakar, Pola Smirin‐Yosef, Marta Vila‐Pueyo, Liora Kornreich, Hölger Thiele, Harald Bode, Irina Lagovsky, Dvir Dahary, Ami Haviv, Monika Weisz Hubshman, Metsada Pasmanik‐Chor, Peter Nürnberg, Doron Gothelf, Christian Kubisch, Mordechai Shohat, Alfons Macaya, Guntram Borck

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Artigo
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  17. 17
    RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome

    RIN2 Deficiency Results in Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis: MACS Syndrome mā Lina Basel‐Vanagaite, Ofer Sarig, Dov Hershkovitz, Dana Fuchs‐Telem, Debora Rapaport, Andrea Gat, Gila Isman, Idit Shirazi, Mordechai Shohat, Claes D. Enk, Efrat Birk, Jürgen Kohlhase, Uta Matysiak‐Scholze, Idit Maya, Carlos Knopf, Anette Peffekoven, Hans-Christian Hennies, Richard N. Bergman, Mia Horowitz, Akemi Ishida‐Yamamoto, Eli Sprecher

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    Artigo
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  18. 18
    Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations

    Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations mā Min‐Xin Guan, Qingfeng Yan, Xiaoming Li, Yelena Bykhovskaya, Jaime Gallo‐Terán, Petr Hájek, Noriko Umeda, Hui Zhao, Gema Garrido, Emebet Mengesha, Tsutomu Suzuki, Ignacio del Castillo, Jennifer L. Peters, Ronghua Li, Yaping Qian, Xinjian Wang, Ester Ballana, Mordechai Shohat, Jianxin Lü, Xavier Estivill, Kimitsuna Watanabe, Nathan Fischel‐Ghodsian

    I whakaputaina 2006
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  19. 19
    Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

    Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families mā Zippora Brownstein, Lilach M. Friedman, Hashem Shahin, Varda Oron‐Karni, Nitzan Kol, Amal Abu Rayyan, Thomas Parzefall, Dorit Lev, Stavit A. Shalev, Moshe Frydman, Bella Davidov, Mordechai Shohat, Michele Rahile, Sari Lieberman, Ephrat Levy‐Lahad, Ming K. Lee, Noam Shomron, Mary‐Claire King, Tom Walsh, Moien Kanaan, Karen B. Avraham

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  20. 20
    Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

    Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study mā Ignacio del Castillo, Miguel A. Moreno‐Pelayo, Francisco Castillo, Zippora Brownstein, Sandrine Marlin, Adina Quint, D.J. Cockburn, Arti Pandya, Kirby Siemering, Gregory Chamberlin, Ester Ballana, Wim Wuyts, Andréa Trevas Maciel‐Guerra, Araceli Álvarez, Manuela Villamar, Mordechai Shohat, Dvorah Abeliovich, Hans‐Henrik M. Dahl, Xavier Estivill, Paolo Gasparini, Tim Hutchin, Walter E. Nance, Edi Lúcia Sartorato, Richard J. Smith, Guy Van Camp, Karen B. Avraham, Christine Petit, Felipe Moreno

    I whakaputaina 2003
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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