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Items: 8

1.

Information Women Choose to Receive About Prenatal Chromosomal Microarray Analysis.

Hochner H, Daum H, Douiev L, Zvi N, Frumkin A, Macarov M, Kimchi-Shaal A, Hacohen N, Eilat A, Faham D, Shkedi-Rafid S.

Obstet Gynecol. 2019 Dec 5. doi: 10.1097/AOG.0000000000003610. [Epub ahead of print]

PMID:
31809435
2.

Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature.

Shalata A, Edery M, Habib C, Genizi J, Mahroum M, Khalaily L, Assaf N, Segal I, Abed El Rahim H, Shapira H, Urian D, Tzur S, Douiev L, Saada A.

Neurochem Res. 2019 Oct;44(10):2372-2384. doi: 10.1007/s11064-019-02786-5. Epub 2019 Apr 9.

PMID:
30968303
3.

The pathomechanism of cytochrome c oxidase deficiency includes nuclear DNA damage.

Douiev L, Saada A.

Biochim Biophys Acta Bioenerg. 2018 Sep;1859(9):893-900. doi: 10.1016/j.bbabio.2018.06.004. Epub 2018 Jun 7.

4.

Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage.

Douiev L, Abu-Libdeh B, Saada A.

Eur J Hum Genet. 2018 Apr;26(4):579-581. doi: 10.1038/s41431-017-0047-5. Epub 2018 Feb 2.

5.

Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.

Abu-Libdeh B, Douiev L, Amro S, Shahrour M, Ta-Shma A, Miller C, Elpeleg O, Saada A.

Eur J Hum Genet. 2017 Oct;25(10):1142-1146. doi: 10.1038/ejhg.2017.112. Epub 2017 Aug 2.

6.

The Effects of Ascorbate, N-Acetylcysteine, and Resveratrol on Fibroblasts from Patients with Mitochondrial Disorders.

Douiev L, Soiferman D, Alban C, Saada A.

J Clin Med. 2016 Dec 22;6(1). pii: E1. doi: 10.3390/jcm6010001.

7.

Upregulation of Mitochondrial Content in Cytochrome c Oxidase Deficient Fibroblasts.

Kogot-Levin A, Saada A, Leibowitz G, Soiferman D, Douiev L, Raz I, Weksler-Zangen S.

PLoS One. 2016 Oct 25;11(10):e0165417. doi: 10.1371/journal.pone.0165417. eCollection 2016.

8.

Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function.

Sheffer R, Douiev L, Edvardson S, Shaag A, Tamimi K, Soiferman D, Meiner V, Saada A.

Am J Med Genet A. 2016 Jun;170(6):1603-7. doi: 10.1002/ajmg.a.37624. Epub 2016 Mar 17.

PMID:
26992161

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