Ohcanbohtosat - Elpeleg, Orly

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

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

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

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A Recessive Contiguous Gene Deletion of Chromosome 2p16 Associated with Cystinuria and a Mitochondrial Disease Dahkki Parvari, Ruti, Brodyansky, Irena, Elpeleg, Orly, Moses, Shimon, Landau, Daniel, Hershkovitz, Eli

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

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Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review Dahkki Kettwig, Matthias, Elpeleg, Orly, Wegener, Eike, Dreha-Kulaczewski, Steffi, Henneke, Marco, Gärtner, Jutta, Huppke, Peter

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Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease Dahkki Trefzer, Raphael, Elpeleg, Orly, Gabrusskaya, Tatyana, Stepensky, Polina, Mor-Shaked, Hagar, Grosse, Robert, Brandt, Dominique T.

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

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A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions Dahkki Melchionda, Laura, Damseh, Nadirah S., Abu Libdeh, Bassam Y., Nasca, Alessia, Elpeleg, Orly, Zanolini, Alice, Ghezzi, Daniele

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A human laterality disorder associated with a homozygous WDR16 deletion Dahkki Ta-Shma, Asaf, Perles, Zeev, Yaacov, Barak, Werner, Marion, Frumkin, Ayala, Rein, Azaria JJT, Elpeleg, Orly

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

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Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child Dahkki Mor-Shaked, Hagar, Rips, Jonathan, Gershon Naamat, Shiri, Reich, Avichai, Elpeleg, Orly, Meiner, Vardiella, Harel, Tamar

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

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

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

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

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

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

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Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia Dahkki Abu-Libdeh, Bassam, Douiev, Liza, Amro, Sarah, Shahrour, Maher, Ta-Shma, Asaf, Miller, Chaya, Elpeleg, Orly, Saada, Ann

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Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay Dahkki Harel, Tamar, Levy-Lahad, Ephrat, Daana, Muhannad, Mechoulam, Hadas, Horowitz-Cederboim, Smadar, Gur, Michal, Meiner, Vardiella, Elpeleg, Orly

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