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Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number.

Thompson, Kyle; Majd, Homa; Dallabona, Christina; Reinson, Karit; King, Martin S.; Alston, Charlotte L.; He, Langping; Lodi, Tiziana; Jones, Simon A.; Fattal-Valevski, Aviva; Fraenkel, Nitay D.; Saada, Ann; Chaham, Alon; Isohanni, Pirjo; Vara, Roshni; Barbosa, Inês A.; Simpson, Michael A.; Deshpande, Charu; Puusepp, Sanna; Bonnen, Penelope E. ... Taylor, Robert W. (2016). Recurrent de novo dominant mutations in SLC25A4 cause severe early-onset mitochondrial disease and loss of mitochondrial DNA copy number. The American Journal of Human Genetics, 99 (4), 860−876. DOI: 10.1016/j.ajhg.2016.08.014.
artikkel ajakirjas
Thompson, Kyle; Majd, Homa; Dallabona, Christina; Reinson, Karit; King, Martin S.; Alston, Charlotte L.; He, Langping; Lodi, Tiziana; Jones, Simon A.; Fattal-Valevski, Aviva; Fraenkel, Nitay D.; Saada, Ann; Chaham, Alon; Isohanni, Pirjo; Vara, Roshni; Barbosa, Inês A.; Simpson, Michael A.; Deshpande, Charu; Puusepp, Sanna; Bonnen, Penelope E. ... Taylor, Robert W.
  • Inglise
The American Journal of Human Genetics
99
4
2016
860876
Ilmunud
1.1. Teadusartiklid, mis on kajastatud Web of Science andmebaasides Science Citation Index Expanded, Social Sciences Citation Index, Arts & Humanities Citation Index, Emerging Sources Citation Index ja/või andmebaasis Scopus (v.a. kogumikud)
Jah
hübriid
Autorile viitamine (CC BY)
SCOPUS

Viited terviktekstile

dx.doi.org/10.1016/j.ajhg.2016.08.014