检索结果 - Orly Elpeleg

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  1. 1
    Fetal exome sequencing: yield and limitations in a tertiary referral center

    Fetal exome sequencing: yield and limitations in a tertiary referral center 由 Hagit Daum, Vardiella Meiner, Orly Elpeleg, Tamar Harel

    出版 2018
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  2. 2
    Deleterious mutation in <i>GPR88</i> is associated with chorea, speech delay, and learning disabilities

    Deleterious mutation in <i>GPR88</i> is associated with chorea, speech delay, and learning disabilities 由 Fadi Alkufri, Avraham Shaag, Bassam Abu‐Libdeh, Orly Elpeleg

    出版 2016
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  3. 3
    Cryptic proteolytic activity of dihydrolipoamide dehydrogenase

    Cryptic proteolytic activity of dihydrolipoamide dehydrogenase 由 Ngolela Esther Babady, Yuan‐Ping Pang, Orly Elpeleg, Grazia Isaya

    出版 2007
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  4. 4
    Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews

    Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews 由 Yair Anikster, Robert Kleta, Avraham Shaag, William A. Gahl, Orly Elpeleg

    出版 2001
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  5. 5
    Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene

    Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene 由 Eyal Shteyer, Ann Saada, Avraham Shaag, Fida’ Al‐Hijawi, Rojette Kidess, Shoshanah Revel-Vilk, Orly Elpeleg

    出版 2009
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  6. 6
    Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

    Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency 由 Andreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, Alf Bjørnstad, Ann Saada, Orly Elpeleg, Jutta Gärtner, Knut Brockmann

    出版 2012
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  7. 7
    EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans

    EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans 由 Yasuhiro Horibata, Orly Elpeleg, Ayelet Eran, Yoshio Hirabayashi, David Savitzki, Galit Tal, Hanna Mandel, Hiroyuki Sugimoto

    出版 2018
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  8. 8
    A human laterality disorder associated with a homozygous WDR16 deletion

    A human laterality disorder associated with a homozygous WDR16 deletion 由 Asaf Ta‐Shma, Zeev Perles, Yaacov Barak, Marion Werner, Ayala Frumkin, Azaria J.J.T. Rein, Orly Elpeleg

    出版 2014
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  9. 9
    C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

    C6ORF66 Is an Assembly Factor of Mitochondrial Complex I 由 Ann Saada, Simon Edvardson, Matan Rapoport, Avraham Shaag, Khaled Amry, Chaya Miller, Haya Lorberboum‐Galski, Orly Elpeleg

    出版 2008
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  10. 10
    Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation

    Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation 由 Ann Saada, Avraham Shaag, Shmuel Arnon, T Dolfin, Carson C. Miller, Dana Fuchs‐Telem, Anne Lombès, Orly Elpeleg

    出版 2007
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  11. 11
    FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency

    FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency 由 Daniele Ghezzi, Ann Saada, Pio D’Adamo, Erika Fernández‐Vizarra, Paolo Gasparini, Valeria Tiranti, Orly Elpeleg, Massimo Zeviani

    出版 2008
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  12. 12
    Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

    Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy 由 Ulla Najwa Abdulhag, Devorah Soiferman, Ora Schueler‐Furman, Chaya Miller, Avraham Shaag, Orly Elpeleg, Simon Edvardson, Ann Saada

    出版 2014
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  13. 13
    Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia

    Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia 由 Simon Edvardson, Avraham Shaag, Olga A. Kolesnikova, John M. Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, Orly Elpeleg

    出版 2007
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  14. 14
    The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3

    The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3 由 Vered Molho‐Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam Abu Libdeh, Valentina Broshtilova, Orly Elpeleg, Abraham Zlotogorski

    出版 2008
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  15. 15
    Organic solute transporter‐β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis

    Organic solute transporter‐β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis 由 Mutaz Sultan, Anuradha Rao, Orly Elpeleg, Frédéric M. Vaz, Bassam Abu‐Libdeh, Saul J. Karpen, Paul A. Dawson

    出版 2017
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  16. 16
    Exome sequencing and disease-network analysis of a single family implicate a mutation in <i>KIF1A</i> in hereditary spastic paraparesis

    Exome sequencing and disease-network analysis of a single family implicate a mutation in <i>KIF1A</i> in hereditary spastic paraparesis 由 Yaniv Erlich, Simon Edvardson, Emily Hodges, Shamir Zenvirt, Pramod Thekkat, Avraham Shaag, Talya Dor, Gregory J. Hannon, Orly Elpeleg

    出版 2011
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  17. 17
    Altered RNA metabolism due to a homozygous<i>RBM7</i>mutation in a patient with spinal motor neuropathy

    Altered RNA metabolism due to a homozygous<i>RBM7</i>mutation in a patient with spinal motor neuropathy 由 Michele Giunta, Simon Edvardson, Yaobo Xu, Markus Schuelke, Aurora Gómez-Durán, Veronika Boczonadi, Orly Elpeleg, Juliane Müller, Rita Horváth

    出版 2016
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  18. 18
    Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit

    Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit 由 Avraham Zeharia, Jonathan R. Friedman, Ana Tobar, Ann Saada, Osnat Konen, Yacov Fellig, Avraham Shaag, Jodi Nunnari, Orly Elpeleg

    出版 2016
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  19. 19
    Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion

    Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion 由 Orly Elpeleg, Chaya Miller, Eli Hershkovitz, Maria Bitner‐Glindzicz, Gili Bondi-Rubinstein, Shamima Rahman, Alistair T. Pagnamenta, Sharon Eshhar, Ann Saada

    出版 2005
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  20. 20
    Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

    Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation 由 Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan Shanske, John M. Gomori, Joseph Ekstein, Orly Elpeleg

    出版 2010
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