Search Results - 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 by Hagit Daum, Vardiella Meiner, Orly Elpeleg, Tamar Harel

    Published 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 by Fadi Alkufri, Avraham Shaag, Bassam Abu‐Libdeh, Orly Elpeleg

    Published 2016
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  3. 3
    Cryptic proteolytic activity of dihydrolipoamide dehydrogenase

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

    Published 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 by Yair Anikster, Robert Kleta, Avraham Shaag, William A. Gahl, Orly Elpeleg

    Published 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 by Eyal Shteyer, Ann Saada, Avraham Shaag, Fida’ Al‐Hijawi, Rojette Kidess, Shoshanah Revel-Vilk, Orly Elpeleg

    Published 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 by Andreas Ohlenbusch, Simon Edvardson, Johannes Skorpen, Alf Bjørnstad, Ann Saada, Orly Elpeleg, Jutta Gärtner, Knut Brockmann

    Published 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 by Yasuhiro Horibata, Orly Elpeleg, Ayelet Eran, Yoshio Hirabayashi, David Savitzki, Galit Tal, Hanna Mandel, Hiroyuki Sugimoto

    Published 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 by Asaf Ta‐Shma, Zeev Perles, Yaacov Barak, Marion Werner, Ayala Frumkin, Azaria J.J.T. Rein, Orly Elpeleg

    Published 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 by Ann Saada, Simon Edvardson, Matan Rapoport, Avraham Shaag, Khaled Amry, Chaya Miller, Haya Lorberboum‐Galski, Orly Elpeleg

    Published 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 by Ann Saada, Avraham Shaag, Shmuel Arnon, T Dolfin, Carson C. Miller, Dana Fuchs‐Telem, Anne Lombès, Orly Elpeleg

    Published 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 by Daniele Ghezzi, Ann Saada, Pio D’Adamo, Erika Fernández‐Vizarra, Paolo Gasparini, Valeria Tiranti, Orly Elpeleg, Massimo Zeviani

    Published 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 by Ulla Najwa Abdulhag, Devorah Soiferman, Ora Schueler‐Furman, Chaya Miller, Avraham Shaag, Orly Elpeleg, Simon Edvardson, Ann Saada

    Published 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 by Simon Edvardson, Avraham Shaag, Olga A. Kolesnikova, John M. Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, Orly Elpeleg

    Published 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 by Vered Molho‐Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam Abu Libdeh, Valentina Broshtilova, Orly Elpeleg, Abraham Zlotogorski

    Published 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 by Mutaz Sultan, Anuradha Rao, Orly Elpeleg, Frédéric M. Vaz, Bassam Abu‐Libdeh, Saul J. Karpen, Paul A. Dawson

    Published 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 by Yaniv Erlich, Simon Edvardson, Emily Hodges, Shamir Zenvirt, Pramod Thekkat, Avraham Shaag, Talya Dor, Gregory J. Hannon, Orly Elpeleg

    Published 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 by Michele Giunta, Simon Edvardson, Yaobo Xu, Markus Schuelke, Aurora Gómez-Durán, Veronika Boczonadi, Orly Elpeleg, Juliane Müller, Rita Horváth

    Published 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 by Avraham Zeharia, Jonathan R. Friedman, Ana Tobar, Ann Saada, Osnat Konen, Yacov Fellig, Avraham Shaag, Jodi Nunnari, Orly Elpeleg

    Published 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 by Orly Elpeleg, Chaya Miller, Eli Hershkovitz, Maria Bitner‐Glindzicz, Gili Bondi-Rubinstein, Shamima Rahman, Alistair T. Pagnamenta, Sharon Eshhar, Ann Saada

    Published 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 by Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan Shanske, John M. Gomori, Joseph Ekstein, Orly Elpeleg

    Published 2010
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