المؤلفون: Živilė Maldžienė, Evelina M. Vaitėnienė, Beata Aleksiūnienė, Algirdas Utkus, Eglė Preikšaitienė

المصدر: BMC Medical Genomics, Vol 13, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: 4q13.3 microdeletion, ADAMTS3, ANKRD17, COX18, Intellectual disability, Congenital anomalies, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12920-020-0711-4Test; https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/7ac1e7309ebb4739b60d963512baf5ddTest

المؤلفون: Maldžienė, Živilė, Vaitėnienė, Evelina Marija, Aleksiūnienė, Beata, Utkus, Algirdas, Preikšaitienė, Eglė

المصدر: BMC medical genomics., London : BioMed Central Ltd, 2020, vol. 13, iss. 1, art. no. 63, p. [1-6]. ; eISSN 1755-8794

مصطلحات موضوعية: 4q13.3 microdeletion, ADAMTS3, ANKRD17, COX18, Intellectual disability, Congenital anomalies

وصف الملف: application/pdf

العلاقة: https://epublications.vu.lt/object/elaba:60880914/60880914.pdfTest; https://repository.vu.lt/VU:ELABAPDB60880914&prefLang=en_USTest

الإتاحة: https://doi.org/10.1186/s12920-020-0711-4Test
https://repository.vu.lt/VU:ELABAPDB60880914&prefLang=en_USTest

المؤلفون: Salvatore DiMauro, Romano Tenconi, Eva Trevisson, Francesca Pistollato, Sabrina Sacconi, Giuseppe Basso, Isabelle Bourget, Claude Desnuelle, Maria Cristina Baldoin, Roger Rezzonico, Leonardo Salviati

المصدر: Biochemical and Biophysical Research Communications. 337:832-839

مصطلحات موضوعية: Models, Molecular, Molecular Sequence Data, Saccharomyces cerevisiae, Biophysics, Respiratory chain, Mitochondrion, Kidney, Biochemistry, Cytochrome c oxidase assembly, Cell Line, Electron Transport Complex IV, Mitochondrial Proteins, Humans, Cytochrome c oxidase, Tissue Distribution, Amino Acid Sequence, Inner mitochondrial membrane, Molecular Biology, Sequence Homology, Amino Acid, biology, COX18, COX19, Membrane Proteins, Cell Biology, biology.organism_classification, Yeast, Mitochondria, Mitochondrial respiratory chain, Organ Specificity, biology.protein, Intermembrane space

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd844531f806ec5791db457e6ec72c29Test
https://doi.org/10.1016/j.bbrc.2005.09.127Test

المؤلفون: SACCONI S, SALVIATI, LEONARDO, TREVISSON, EVA

المساهمون: Sacconi, S, Salviati, Leonardo, Trevisson, Eva

مصطلحات موضوعية: COX18, Cytochrome c Oxidase deficiency

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/19373256; info:eu-repo/semantics/altIdentifier/wos/WOS:000268314100009; volume:54; firstpage:419; lastpage:421; numberofpages:3; journal:JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11577/156451Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-68449099293

الإتاحة: https://doi.org/10.1038/jhg.2009.36Test
http://hdl.handle.net/11577/156451Test

المؤلفون: Eva Trevisson, Sabrina Sacconi, Leonardo Salviati

المساهمون: CHU Nice, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Institut de signalisation, biologie du développement et cancer (ISBDC), Centre National de la Recherche Scientifique (CNRS)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Université Côte d'Azur (UCA)

المصدر: Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2009, 54 (7), pp.419-21. ⟨10.1038/jhg.2009.36⟩

مصطلحات موضوعية: Mitochondrial DNA, DNA Mutational Analysis, Cytochrome-c Oxidase Deficiency, medicine.disease_cause, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Cytochrome c oxidase, Humans, SURF1, Myopathy, Gene, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), 030304 developmental biology, COX18, Cytochrome c Oxidase deficiency, 0303 health sciences, Mutation, biology, Genetic heterogeneity, Membrane Proteins, Molecular biology, Phenotype, biology.protein, medicine.symptom, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c57e605370c8d6801600119253a8f57Test
https://pubmed.ncbi.nlm.nih.gov/19373256Test

المؤلفون: Nathalie Bonnefoy, Heather L. Fiumera, Geneviève Dujardin, Thomas D. Fox

المصدر: Biochimica et biophysica acta. 1793(1)

مصطلحات موضوعية: Mitochondrial translation, Respiratory chain, Saccharomyces cerevisiae, Biology, Mitochondrion, Article, Electron Transport, Electron Transport Complex IV, Evolution, Molecular, Mitochondrial Proteins, 03 medical and health sciences, Mitochondrial ribosome, Escherichia coli, Inner membrane, Translocase, Animals, Humans, Amino Acid Sequence, Molecular Biology, 030304 developmental biology, 0303 health sciences, Membrane transport protein, YidC, 030302 biochemistry & molecular biology, Membrane Transport Proteins, Nuclear Proteins, Membrane translocation, Cell Biology, Cell biology, Biochemistry, Electron Transport Chain Complex Proteins, Translocase of the inner membrane, Mitochondrial Membranes, biology.protein, ATP synthase, Cox18, Membrane insertion, Cytochrome c oxidase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0909aa65e733472cf796180a9655fc8cTest
https://pubmed.ncbi.nlm.nih.gov/18522806Test

المؤلفون: SACCONI S, PISTOLLATO F, BALDOIN MC, REZZONICO R, BOURGET I, DESNUELLE C, DIMAURO S, TREVISSON, EVA, TENCONI, ROMANO, BASSO, GIUSEPPE, SALVIATI, LEONARDO

المساهمون: Sacconi, S, Trevisson, Eva, Pistollato, F, Baldoin, Mc, Rezzonico, R, Bourget, I, Desnuelle, C, Tenconi, Romano, Basso, Giuseppe, Dimauro, S, Salviati, Leonardo

مصطلحات موضوعية: COX18, COX19, Cytochrome c oxidase, Cytochrome c oxidase assembly

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/16212937; info:eu-repo/semantics/altIdentifier/wos/WOS:000232910300012; volume:337; issue:3; firstpage:832; lastpage:839; numberofpages:8; journal:BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS; http://hdl.handle.net/11577/2435124Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-26844566827; http://www.sciencedirect.com/science/article/pii/S0006291X05021340Test

الإتاحة: https://doi.org/10.1016/j.bbrc.2005.09.127Test
http://hdl.handle.net/11577/2435124Test
http://www.sciencedirect.com/science/article/pii/S0006291X05021340Test