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발행년	- (예 : 2010-2015)

전체선택

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome.

Academic Journal

Spiegel R; Paediatric Department A' and Genetic Institute Ha'Emek Medical Center, Afula, Israel. spiegelr@zahav.net.il; Khayat M; Shalev SA; Horovitz Y; Mandel H; Hershkovitz E; Barghuti F; Shaag A; Saada A; Korman SH; Elpeleg O; Yatsiv I

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Full Text (ProQuest Central) Full Text (BMJ Journals) Web of Science JCR 저널정보 Scopus Find it@PNU

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Academic Journal

Saada A; Metabolic Disease Unit, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; Vogel RO; Hoefs SJ; van den Brand MA; Wessels HJ; Willems PH; Venselaar H; Shaag A; Barghuti F; Reish O; Shohat M; Huynen MA; Smeitink JA; van den Heuvel LP; Nijtmans LG

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Full Text (ScienceDirect 종량제) Full Text (ScienceDirect O/A) Open Access (PubMed Central) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

Academic Journal

Barghuti F; Al-Mustaqbal Hospital, Ramallah, Palestinian Authority.; Elian K; Gomori JM; Shaag A; Edvardson S; Saada A; Elpeleg O

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Full Text (ScienceDirect 종량제) Web of Science JCR 저널정보 Scopus Find it@PNU

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Electronic Resource

American Journal of Human Genetics; 718; 27; 0002-9297; 6; 84; ~American Journal of Human Genetics~718~27~~~0002-9297~6~84~~

Open Access (OAIster)

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Electronic Resource

American Journal of Human Genetics; 718; 27; 0002-9297; 6; 84; ~American Journal of Human Genetics~718~27~~~0002-9297~6~84~~

Open Access (OAIster)

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Electronic Resource

American Journal of Human Genetics; 718; 727; 0002-9297; 6; 84; ~American Journal of Human Genetics~718~727~~~0002-9297~6~84~~

Open Access (OAIster)

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