يعرض 1 - 20 نتائج من 749 نتيجة بحث عن '"Cappuccio G."', وقت الاستعلام: 0.74s تنقيح النتائج
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    Academic Journal
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    Academic Journal

    المساهمون: Université de Lille, CHU Lille, Laboratoire de Diagnostic Génétique CHU Strasbourg, Les Hôpitaux Universitaires de Strasbourg (HUS), Centre Hospitalier de Mulhouse, site du Hasenrain (Mulhouse), Centre Hospitalier Régional Universitaire CHU Lille CHRU Lille, Pôle de Biologie Pathologie Génétique CHU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME

    وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

    Relation: Science Advances; Sci Adv; http://hdl.handle.net/20.500.12210/84140

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    Academic Journal

    Relation: NHMRC/1140851; NHMRC/1140906; pii: 10.1038/s41467-023-36277-7; Van Haute, L., O'Connor, E., Díaz-Maldonado, H., Munro, B., Polavarapu, K., Hock, D. H., Arunachal, G., Athanasiou-Fragkouli, A., Bardhan, M., Barth, M., Bonneau, D., Brunetti-Pierri, N., Cappuccio, G., Caruana, N. J., Dominik, N., Goel, H., Helman, G., Houlden, H., Lenaers, G. ,. Horvath, R. (2023). TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun, 14 (1), pp.1009-. https://doi.org/10.1038/s41467-023-36277-7.; http://hdl.handle.net/11343/327342

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    Academic Journal

    المساهمون: Levy M.A., Relator R., McConkey H., Pranckeviciene E., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Palomares Bralo M., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Ferilli M., Fletcher R.S., Cherick F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Ostergaard E., Pallares N.R., Piccione M., Plomp A.S., Poulton C., Reilly J., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., John M.S., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T.B., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Campion D., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Heron D., Husson T., Kernohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vincent M., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.

    Relation: info:eu-repo/semantics/altIdentifier/pmid/35904121; info:eu-repo/semantics/altIdentifier/wos/WOS:000842416800001; volume:43; issue:11; firstpage:1609; lastpage:1628; numberofpages:20; journal:HUMAN MUTATION; https://hdl.handle.net/10447/579330

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    Academic Journal

    المساهمون: Levy M.A., McConkey H., Kerkhof J., Barat-Houari M., Bargiacchi S., Biamino E., Bralo M.P., Cappuccio G., Ciolfi A., Clarke A., DuPont B.R., Elting M.W., Faivre L., Fee T., Fletcher R.S., Cherik F., Foroutan A., Friez M.J., Gervasini C., Haghshenas S., Hilton B.A., Jenkins Z., Kaur S., Lewis S., Louie R.J., Maitz S., Milani D., Morgan A.T., Oegema R., Østergaard E., Pallares N.R., Piccione M., Pizzi S., Plomp A.S., Poulton C., Reilly J., Relator R., Rius R., Robertson S., Rooney K., Rousseau J., Santen G.W.E., Santos-Simarro F., Schijns J., Squeo G.M., St John M., Thauvin-Robinet C., Traficante G., van der Sluijs P.J., Vergano S.A., Vos N., Walden K.K., Azmanov D., Balci T., Banka S., Gecz J., Henneman P., Lee J.A., Mannens M.M.A.M., Roscioli T., Siu V., Amor D.J., Baynam G., Bend E.G., Boycott K., Brunetti-Pierri N., Campeau P.M., Christodoulou J., Dyment D., Esber N., Fahrner J.A., Fleming M.D., Genevieve D., Kerrnohan K.D., McNeill A., Menke L.A., Merla G., Prontera P., Rockman-Greenberg C., Schwartz C., Skinner S.A., Stevenson R.E., Vitobello A., Tartaglia M., Alders M., Tedder M.L., Sadikovic B.

    Relation: info:eu-repo/semantics/altIdentifier/pmid/35047860; info:eu-repo/semantics/altIdentifier/wos/WOS:000787652900021; volume:3; issue:1; firstpage:100075; numberofpages:18; journal:HGG ADVANCES; https://hdl.handle.net/10447/620282

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    Academic Journal
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    Academic Journal
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    Academic Journal

    المصدر: Human Genomics. 10(Suppl 1)

    وصف الملف: application/pdf

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    Academic Journal

    المساهمون: Laboratoire de Diagnostic Génétique CHU Strasbourg, Université de Strasbourg (UNISTRA)-Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS)-Les Hôpitaux Universitaires de Strasbourg (HUS), Les Hôpitaux Universitaires de Strasbourg (HUS), Centre Hospitalier de Mulhouse, site du Hasenrain (Mulhouse), Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Pôle de Biologie Pathologie Génétique CHU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

    المصدر: ISSN: 2375-2548 ; Science Advances ; https://hal.univ-lille.fr/hal-04470583 ; Science Advances , 2022, Science Advances, 8, pp.eabo7112. ⟨10.1126/sciadv.abo7112⟩.

    مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

    Relation: info:eu-repo/semantics/altIdentifier/pmid/35977029; hal-04470583; https://hal.univ-lille.fr/hal-04470583; https://hal.univ-lille.fr/hal-04470583/document; https://hal.univ-lille.fr/hal-04470583/file/sciadv.abo7112.pdf; PUBMED: 35977029

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    Academic Journal

    Relation: pii: S2666-2477(21)00056-7; Levy, M. A., McConkey, H., Kerkhof, J., Barat-Houari, M., Bargiacchi, S., Biamino, E., Cappuccio, G., Ciolfi, A., Clarke, A., DuPont, B. R., Elting, M. W., Faivre, L., Fee, T., Fletcher, R. S., Cherik, F., Foroutan, A., Friez, M. J., Gervasini, C., Haghshenas, S. ,. Sadikovic, B. (2022). Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. HUMAN GENETICS AND GENOMICS ADVANCES, 3 (1), https://doi.org/10.1016/j.xhgg.2021.100075.; http://hdl.handle.net/11343/305257

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    Academic Journal

    Relation: pii: 6408637; van Geest, F. S., Groeneweg, S., van den Akker, E. L. T., Bacos, I., Barca, D., van den Berg, S. A. A., Bertini, E., Brunner, D., Brunetti-Pierri, N., Cappa, M., Cappuccio, G., Chatterjee, K., Chesover, A. D., Christian, P., Coutant, R., Craiu, D., Crock, P., Dewey, C., Dica, A. ,. Visser, W. E. (2022). Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study. Journal of Clinical Endocrinology and Metabolism, 107 (3), pp.e1136-e1147. https://doi.org/10.1210/clinem/dgab750.; http://hdl.handle.net/11343/307712

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    Academic Journal
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    Academic Journal
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    Academic Journal
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    Academic Journal

    المساهمون: Cappuccio, G., Caiazza, M., Roca, A., Melis, D., Iuliano, A., Matyas, G., Rubino, M., Limongelli, G., Brunetti-Pierri, N.

    Relation: volume:185; issue:3; firstpage:702; lastpage:709; numberofpages:8; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11563/153057; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099504377

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    Electronic Resource
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    Report
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    Book

    المؤلفون: Ferrara G., Cappuccio G.

    المساهمون: Ferrara G., Cappuccio G.

    Relation: info:eu-repo/semantics/altIdentifier/isbn/978-84-09-14755-7; ispartofbook:ICERI2019 proceedings, International Academy of Technology, Education and Development; ICERI2019 proceedings, International Academy of Technology, Education and Development; numberofpages:11; serie:ICERI PROCEEDINGS; http://hdl.handle.net/10447/544019