Rezultati pretrage autora

1

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

Izdano 2018

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2

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

Izdano 2016

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3

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

Izdano 2007

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

Izdano 2001

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5

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

Izdano 2009

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6

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

Izdano 2012

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7

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

Izdano 2018

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8

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

Izdano 2014

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9

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

Izdano 2008

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10

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

Izdano 2007

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11

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

Izdano 2008

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12

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

Izdano 2014

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13

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

Izdano 2007

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14

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

Izdano 2008

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15

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

Izdano 2017

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16

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

Izdano 2011

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17

Altered RNA metabolism due to a homozygousRBM7mutation in a patient with spinal motor neuropathy od Michele Giunta, Simon Edvardson, Yaobo Xu, Markus Schuelke, Aurora Gómez-Durán, Veronika Boczonadi, Orly Elpeleg, Juliane Müller, Rita Horváth

Izdano 2016

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18

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

Izdano 2016

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19

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

Izdano 2005

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20

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

Izdano 2010

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Rezultati pretrage - Orly Elpeleg

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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