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| Title : Mitochondrial hepato-encephalopathy due to deficiency of QIL1\/MIC13 (C19orf70), a MICOS complex subunit - Zeharia_2016_Eur.J.Hum.Genet_24_1778 |
| Author(s) : Zeharia A , Friedman JR , Tobar A , Saada A , Konen O , Fellig Y , Shaag A , Nunnari J , Elpeleg O |
| Ref : Eur J Hum Genet , 24 :1778 , 2016 |
| Abstract : Zeharia_2016_Eur.J.Hum.Genet_24_1778 |
| ESTHER : Zeharia_2016_Eur.J.Hum.Genet_24_1778 |
| PubMedSearch : Zeharia_2016_Eur.J.Hum.Genet_24_1778 |
| PubMedID: 27485409 |
| Title : Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review - Kettwig_2016_BMC.Neurol_16_74 |
| Author(s) : Kettwig M , Elpeleg O , Wegener E , Dreha-Kulaczewski S , Henneke M , Gartner J , Huppke P |
| Ref : BMC Neurol , 16 :74 , 2016 |
| Abstract : Kettwig_2016_BMC.Neurol_16_74 |
| ESTHER : Kettwig_2016_BMC.Neurol_16_74 |
| PubMedSearch : Kettwig_2016_BMC.Neurol_16_74 |
| PubMedID: 27206732 |
| Title : Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria - Tort_2013_Mol.Genet.Metab_110_73 |
| Author(s) : Tort F , Garcia-Silva MT , Ferrer-Cortes X , Navarro-Sastre A , Garcia-Villoria J , Coll MJ , Vidal E , Jimenez-Almazan J , Dopazo J , Briones P , Elpeleg O , Ribes A |
| Ref : Mol Genet Metab , 110 :73 , 2013 |
| Abstract : Tort_2013_Mol.Genet.Metab_110_73 |
| ESTHER : Tort_2013_Mol.Genet.Metab_110_73 |
| PubMedSearch : Tort_2013_Mol.Genet.Metab_110_73 |
| PubMedID: 23707711 |
| Gene_locus related to this paper: human-SERAC1 |
| Title : A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease - Parvari_2001_Am.J.Hum.Genet_69_869 |
| Author(s) : Parvari R , Brodyansky I , Elpeleg O , Moses S , Landau D , Hershkovitz E |
| Ref : American Journal of Human Genetics , 69 :869 , 2001 |
| Abstract : Parvari_2001_Am.J.Hum.Genet_69_869 |
| ESTHER : Parvari_2001_Am.J.Hum.Genet_69_869 |
| PubMedSearch : Parvari_2001_Am.J.Hum.Genet_69_869 |
| PubMedID: 11524703 |
| Gene_locus related to this paper: human-PREPL |