Výsledky hledání pro autora

1

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

Vydáno 2016

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2

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

Vydáno 2001

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Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency Autor Spiegel, Ronen, Soiferman, Devorah, Shaag, Avraham, Shalev, Stavit, Elpeleg, Orly, Saada, Ann

Vydáno 2016

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4

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

Vydáno 2007

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5

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

Vydáno 2008

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

Vydáno 2009

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

Vydáno 2015

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8

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews Autor Spiegel, Ronen, Shaag, Avraham, Mandel, Hanna, Reich, Dan, Penyakov, Marina, Hujeirat, Yasir, Saada, Ann, Elpeleg, Orly, Shalev, Stavit A

Vydáno 2009

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9

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

Vydáno 2011

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10

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia Autor Maor-Sagie, Esther, Cinnamon, Yuval, Yaacov, Barak, Shaag, Avraham, Goldsmidt, Hannoch, Zenvirt, Shamir, Laufer, Neri, Richler, Carmelit, Frumkin, Ayala

Vydáno 2015

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11

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

Vydáno 2016

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12

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

Vydáno 2010

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13

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

Vydáno 2010

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14

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia Autor Edvardson, Simon, Hama, Hiroko, Shaag, Avraham, Gomori, John Moshe, Berger, Itai, Soffer, Dov, Korman, Stanley H., Taustein, Ilana, Saada, Ann, Elpeleg, Orly

Vydáno 2008

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15

Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency Autor Stepensky, Polina, Keller, Baerbel, Abuzaitoun, Omar, Shaag, Avraham, Yaacov, Barak, Unger, Susanne, Seidl, Maximilian, Rizzi, Marta, Weintraub, Michael, Elpeleg, Orly, Warnatz, Klaus

Vydáno 2015

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16

MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease Autor Rips, Jonathan, Meyer-Schuman, Rebecca, Breuer, Oded, Tsabari, Reuven, Shaag, Avraham, Revel-Vilk, Shoshana, Reif, Shimon, Elpeleg, Orly, Antonellis, Anthony, Harel, Tamar

Vydáno 2018

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17

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy Autor Spiegel, Ronen, Saada, Ann, Halvardson, Jonatan, Soiferman, Devorah, Shaag, Avraham, Edvardson, Simon, Horovitz, Yoseph, Khayat, Morad, Shalev, Stavit A, Feuk, Lars, Elpeleg, Orly

Vydáno 2014

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18

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy Autor Fichtman, Boris, Zagairy, Fadia, Biran, Nitzan, Barsheshet, Yiftah, Chervinsky, Elena, Ben Neriah, Ziva, Shaag, Avraham, Assa, Michael, Elpeleg, Orly, Harel, Amnon, Spiegel, Ronen

Vydáno 2019

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19

IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach Autor Stepensky, Polina, Weintraub, Michael, Yanir, Asaf, Revel-Vilk, Shoshana, Krux, Frank, Huck, Kirsten, Linka, Rene M., Shaag, Avraham, Elpeleg, Orly, Borkhardt, Arndt, Resnick, Igor B.

Vydáno 2011

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20

Bacillus Calmette–Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation Autor NaserEddin, Adeeb, Dinur-Schejter, Yael, Shadur, Bella, Zaidman, Irina, Even-Or, Ehud, Averbuch, Diana, Shamriz, Oded, Tal, Yuval, Shaag, Avraham, Warnatz, Klaus, Elpeleg, Orly, Stepensky, Polina

Vydáno 2020

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Výsledky vyhledávání - Shaag, Avraham

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

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

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency Autor Spiegel, Ronen, Soiferman, Devorah, Shaag, Avraham, Shalev, Stavit, Elpeleg, Orly, Saada, Ann

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

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

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

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

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews Autor Spiegel, Ronen, Shaag, Avraham, Mandel, Hanna, Reich, Dan, Penyakov, Marina, Hujeirat, Yasir, Saada, Ann, Elpeleg, Orly, Shalev, Stavit A

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

Deleterious mutation in SYCE1 is associated with non-obstructive azoospermia Autor Maor-Sagie, Esther, Cinnamon, Yuval, Yaacov, Barak, Shaag, Avraham, Goldsmidt, Hannoch, Zenvirt, Shamir, Laufer, Neri, Richler, Carmelit, Frumkin, Ayala

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

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

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

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia Autor Edvardson, Simon, Hama, Hiroko, Shaag, Avraham, Gomori, John Moshe, Berger, Itai, Soffer, Dov, Korman, Stanley H., Taustein, Ilana, Saada, Ann, Elpeleg, Orly

Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency Autor Stepensky, Polina, Keller, Baerbel, Abuzaitoun, Omar, Shaag, Avraham, Yaacov, Barak, Unger, Susanne, Seidl, Maximilian, Rizzi, Marta, Weintraub, Michael, Elpeleg, Orly, Warnatz, Klaus

MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease Autor Rips, Jonathan, Meyer-Schuman, Rebecca, Breuer, Oded, Tsabari, Reuven, Shaag, Avraham, Revel-Vilk, Shoshana, Reif, Shimon, Elpeleg, Orly, Antonellis, Anthony, Harel, Tamar

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy Autor Spiegel, Ronen, Saada, Ann, Halvardson, Jonatan, Soiferman, Devorah, Shaag, Avraham, Edvardson, Simon, Horovitz, Yoseph, Khayat, Morad, Shalev, Stavit A, Feuk, Lars, Elpeleg, Orly

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy Autor Fichtman, Boris, Zagairy, Fadia, Biran, Nitzan, Barsheshet, Yiftah, Chervinsky, Elena, Ben Neriah, Ziva, Shaag, Avraham, Assa, Michael, Elpeleg, Orly, Harel, Amnon, Spiegel, Ronen

IL-2-inducible T-cell kinase deficiency: clinical presentation and therapeutic approach Autor Stepensky, Polina, Weintraub, Michael, Yanir, Asaf, Revel-Vilk, Shoshana, Krux, Frank, Huck, Kirsten, Linka, Rene M., Shaag, Avraham, Elpeleg, Orly, Borkhardt, Arndt, Resnick, Igor B.

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