المؤلفون: Cerone R., Fantasia A. R., Schiaffino M. C., Maritano L., Romano C.

المصدر: Pteridines, Vol 3, Iss 1-2, Pp 23-24 (1991)

مصطلحات موضوعية: Crystallography, QD901-999

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/0933-4807Test; https://doaj.org/toc/2195-4720Test

الوصول الحر: https://doaj.org/article/f5a9b2a0c65c4865b0fa75b8c5661edeTest

المؤلفون: Ardissone A., Bruno C., Diodato D., Donati A., Ghezzi D., Lamantea E., Lamperti C., Mancuso M., Martinelli D., Primiano G., Procopio E., Rubegni A., Santorelli F., Schiaffino M. C., Servidei S., Tubili F., Bertini E., Moroni I.

المساهمون: A. Ardissone, C. Bruno, D. Diodato, A. Donati, D. Ghezzi, E. Lamantea, C. Lamperti, M. Mancuso, D. Martinelli, G. Primiano, E. Procopio, A. Rubegni, F. Santorelli, M.C. Schiaffino, S. Servidei, F. Tubili, E. Bertini, I. Moroni

مصطلحات موضوعية: Basal ganglia, Childhood, Leigh syndrome, Mitochondrial disease, Human, Italy, Membrane Protein, Mitochondrial Protein, Mutation, Leigh Disease, Mitochondrial Diseases, Settore MED/03 - Genetica Medica, Settore MED/26 - Neurologia

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34627336; info:eu-repo/semantics/altIdentifier/wos/WOS:000705208700006; volume:16; issue:1; firstpage:1; lastpage:12; numberofpages:12; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/2434/902710Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116630941

الإتاحة: https://doi.org/10.1186/s13023-021-02029-3Test
http://hdl.handle.net/2434/902710Test

المؤلفون: Panicucci C., Schiaffino M. C., Nesti C., Derchi M., Trocchio G., Severino M., Stagnaro N., Priolo E., Zara F., Santorelli F. M., Bruno C.

المساهمون: Panicucci, C., Schiaffino, M. C., Nesti, C., Derchi, M., Trocchio, G., Severino, M., Stagnaro, N., Priolo, E., Zara, F., Santorelli, F. M., Bruno, C.

مصطلحات موضوعية: AGK gene, Case report, Long term follow-up, Mild phenotype, Sengers syndrome

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000869271300003; volume:48; firstpage:180; lastpage:185; numberofpages:6; journal:THE ITALIAN JOURNAL OF PEDIATRICS; https://hdl.handle.net/11567/1143155Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85139877092

الإتاحة: https://doi.org/10.1186/s13052-022-01370-yTest
https://hdl.handle.net/11567/1143155Test

المؤلفون: Faraci, M, Cuzzubbo, D, Micalizzi, C, Lanino, E, Morreale, G, Dallorso, S, Castagnola, E, Schiaffino, M C, Bruno, C, Rossi, A, Dini, G, Cappelli, B

مصطلحات موضوعية: Transplantation, Hematology

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/148132Test

الإتاحة: https://doi.org/10.1038/sj.bmt.1705638Test
https://www.openaccessrepository.it/record/148132Test

المؤلفون: Cerone, R, Minniti, G, Schiaffino, M C, Lorini, R, Mori, P G

المصدر: Pediatric Research ; volume 45, page 765-765 ; ISSN 0031-3998 1530-0447

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1203/00006450-199905010-00163Test

المؤلفون: Rüetschi, Ulla, 1962, Cerone, R, Pérez-Cerda, C, Schiaffino, M C, Standing, S, Ugarte, M, Holme, Elisabeth, 1947

المصدر: Human genetics. 106(6):654-62

مصطلحات موضوعية: Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy), Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci), 4-Hydroxyphenylpyruvate Dioxygenase, genetics, metabolism, Adolescent, Amino Acid Substitution, Binding Sites, Child, DNA Mutational Analysis, Exons, Female, Homozygote, Humans, Infant, Introns, Kidney, enzymology, Liver, Male, Mutation, Missense, Polymerase Chain Reaction, Restriction Mapping, Sequence Analysis, DNA, Sequence Homology, Amino Acid, Tyrosine, blood, Tyrosinemias, diagnosis

الوصول الحر: https://gup.ub.gu.se/publication/85732Test

المؤلفون: BIANCHERI R., ROSSI A., SCHIAFFINO M. C., CARUSO U., MINNITI G., PERRONE M. V., TORTORI DONATI P., CERONE, ROBERTO, VENESELLI, EDVIGE MARIA

المساهمون: Biancheri, R., Cerone, Roberto, Rossi, A., Schiaffino, M. C., Caruso, U., Minniti, G., Perrone, M. V., TORTORI DONATI, P., Veneselli, EDVIGE MARIA

وصف الملف: STAMPA

العلاقة: volume:43; firstpage:616; lastpage:622; journal:EPILEPSIA; http://hdl.handle.net/11567/205439Test

الإتاحة: http://hdl.handle.net/11567/205439Test

المؤلفون: RUETSCHI U., PÉREZ CERDA C., SCHIAFFINO M. C., STANDING S., UGARTE M., HOLME E., CERONE, ROBERTO

المساهمون: Ruetschi, U., Cerone, Roberto, PÉREZ CERDA, C., Schiaffino, M. C., Standing, S., Ugarte, M., Holme, E.

وصف الملف: STAMPA

العلاقة: volume:106; firstpage:654; lastpage:662; journal:HUMAN GENETICS; http://hdl.handle.net/11567/191653Test

الإتاحة: http://hdl.handle.net/11567/191653Test

المؤلفون: Schiaffino, M. C., Fantasia, A. R., Minniti, G., Caruso, U., Carnevale, F., Cerone, R.

المصدر: Journal of Inherited Metabolic Disease ; volume 27, issue 1, page 101-102 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1023/b:boli.0000016674.61073.e4Test

المؤلفون: Cerone, R., Fantasia, A. R, Castellano, E., Moresco, L., Schiaffino, M. C., Gatti, R.

المصدر: Journal of Inherited Metabolic Disease ; volume 25, issue 4, page 317-318 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1023/a:1016558510123Test