يعرض 1 - 10 نتائج من 26 نتيجة بحث عن '"L. DeSanctis"', وقت الاستعلام: 0.93s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3

    المؤلفون: F. M. Elli, L. deSanctis, M.A. Maffini, P. Bordogna, D. Tessaris, A. Pirelli, M. Arosio, A. Linglart, G. Mantovani

    المصدر: Clinical Epigenetics, Vol 11, Iss 1, Pp 1-8 (2019)

    مصطلحات موضوعية: PHP-1B, iPPSD, 2q37, Modifier gene, GNAS, Methylation defect, Medicine, Genetics, QH426-470

    وصف الملف: electronic resource

    العلاقة: http://link.springer.com/article/10.1186/s13148-018-0607-8Test; https://doaj.org/toc/1868-7075Test; https://doaj.org/toc/1868-7083Test

    الوصول الحر: https://doaj.org/article/b756e09f345d4a18921669574b2a835fTest

    View record in DOAJ النص الكامل

    أضف إلى المفضلة
  2. 2
    دورية أكاديمية
    Greater than pH 8: The pH dependence of EDTA as a preservative of high molecular weight DNA in biological samples.

    المؤلفون: Mia L DeSanctis, Elizabeth A Soranno, Ella Messner, Ziyu Wang, Elena M Turner, Rosalia Falco, Hannah J Appiah-Madson, Daniel L Distel

    المصدر: PLoS ONE, Vol 18, Iss 1, p e0280807 (2023)

    مصطلحات موضوعية: Medicine, Science

    وصف الملف: electronic resource

    العلاقة: https://doaj.org/toc/1932-6203Test

    الوصول الحر: https://doaj.org/article/7b78b4fe87d24210b8f77aa9b27935f1Test

    View record in DOAJ النص الكامل

    أضف إلى المفضلة
  3. 3
    دورية أكاديمية
    THE EUROPEAN PHYSICAL JOURNAL B On the mean-field spin glass transition

    المؤلفون: A. Barra, L. Desanctis

    المساهمون: The Pennsylvania State University CiteSeerX Archives

    المصدر: http://remus.roma1.infn.it/GTC_PubDocs/onthemeanfieldspinglasstransition.pdfTest.

    وصف الملف: application/pdf

    العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.388.3651Test; http://remus.roma1.infn.it/GTC_PubDocs/onthemeanfieldspinglasstransition.pdfTest

    الإتاحة: http://remus.roma1.infn.it/GTC_PubDocs/onthemeanfieldspinglasstransition.pdfTest

    View record in BASE

    أضف إلى المفضلة
  4. 4
    The European Registry for Rare Bone and Mineral Conditions (EuRR-Bone): First year experience of the use of an e-reporting tool

    المؤلفون: M. Boarini, Agnès Linglart, L. DeSanctis, E. van den Akker, A. S. Faisal, Marco Roos, A. L. P. Zurita, Ondrej Soucek, R. S. Auriemma, Marina Mordenti, Adalbert Raimann, Klaus Mohnike, Luca Sangiorgi, A. Vicente, Wolfgang Högler, Diana-Alexandra Ertl, J. Bryce, Corinna Grasemann, Inês Alves, Muhammad Javaid, R. Skarberg, Natasha M. Appelman-Dijkstra, Hoong-Wei Gan, J. Toke

    المصدر: Bone Reports, Vol 14, Iss, Pp 100849-(2021)

    مصطلحات موضوعية: medicine.medical_specialty, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), business.industry, Endocrinology, Diabetes and Metabolism, Fibrous dysplasia, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Light touch, Diseases of the musculoskeletal system, Newly diagnosed, medicine.disease, RC925-935, Osteogenesis imperfecta, Family medicine, medicine, Orthopedics and Sports Medicine, business

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17c9b06c0d2e34e5f7400b4d3d80704cTest
    https://doi.org/10.1016/j.bonr.2021.100849Test


    أضف إلى المفضلة
  5. 5
    Additional file 1: of Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3

    المؤلفون: F. Elli, L. DeSanctis, M.A. Maffini, P. Bordogna, D. Tessaris, A. Pirelli, M. Arosio, A. Linglart, G. Mantovani

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48e0a2db526c520a6fa9312457235dc6Test


    أضف إلى المفضلة
  6. 6
    Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3

    المؤلفون: Maria Antonia Maffini, L. deSanctis, Arianna Pirelli, Agnès Linglart, Maura Arosio, Giovanna Mantovani, Francesca Elli, Paolo Bordogna, Daniele Tessaris

    المصدر: Clinical Epigenetics
    Clinical Epigenetics, Vol 11, Iss 1, Pp 1-8 (2019)

    مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, 2q37, Drug Resistance, lcsh:Medicine, Thyrotropin, Gs, 0302 clinical medicine, GTP-Binding Protein alpha Subunits, Gs, Genetics (clinical), Genetics, biology, Imprinting, GTP-Binding Protein alpha Subunits, Phenotype, 030220 oncology & carcinogenesis, Chromosomes, Human, Pair 2, Pseudohypoparathyroidism, Pair 2, Female, Chromosome Deletion, Human, musculoskeletal diseases, lcsh:QH426-470, iPPSD, Chromosomes, AHO, GNAS, Methylation defect, Modifier gene, PHP-1B, Chromogranins, Genetic Association Studies, Genetic Heterogeneity, Genomic Imprinting, Humans, 03 medical and health sciences, medicine, GNAS complex locus, Epigenetics, Molecular Biology, Genetic heterogeneity, Research, lcsh:R, Brachydactyly, medicine.disease, Human genetics, lcsh:Genetics, 030104 developmental biology, biology.protein, Genomic imprinting, Developmental Biology

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2de7778a0a69018019b91d3811e6a43Test
    http://europepmc.org/articles/PMC6322333Test


    أضف إلى المفضلة
  7. 7
    Additional file 2: of Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3

    المؤلفون: F. Elli, L. DeSanctis, M.A. Maffini, P. Bordogna, D. Tessaris, A. Pirelli, M. Arosio, A. Linglart, G. Mantovani

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87638a00f4c5c13a5553f19904a4fa54Test


    أضف إلى المفضلة
  8. 8
    دورية أكاديمية
    The Meaning of the Interface: A Functional and Holistic Evaluation of a Meeting Software System

    المؤلفون: Gerardine L. DeSanctis, James R. Snyder, Marshall Scott Poole

    المساهمون: The Pennsylvania State University CiteSeerX Archives

    المصدر: http://misrc.umn.edu/workingpapers/fullpapers/1991/9102.pdfTest.

    وصف الملف: application/pdf

    العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.134.884Test; http://misrc.umn.edu/workingpapers/fullpapers/1991/9102.pdfTest

    الإتاحة: http://misrc.umn.edu/workingpapers/fullpapers/1991/9102.pdfTest

    View record in BASE

    أضف إلى المفضلة
  9. 9
    دورية أكاديمية
    On the mean-field spin glass transition

    المؤلفون: BARRA, ADRIANO, L. Desanctis

    المساهمون: Barra, Adriano, L., Desanctis

    العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000258317100014; volume:64; issue:1; firstpage:119; lastpage:124; numberofpages:6; journal:THE EUROPEAN PHYSICAL JOURNAL. B, CONDENSED MATTER PHYSICS; http://hdl.handle.net/11573/453842Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-49449099541; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000258317100014&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest; http://www.scopus.com/inward/record.url?eid=2-s2.0-49449099541&partnerID=65&md5=4c5ec90a339ec0294636bdba31742e1bTest

    الإتاحة: https://doi.org/10.1140/epjb/e2008-00281-yTest
    http://hdl.handle.net/11573/453842Test
    http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000258317100014&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396aTest
    http://www.scopus.com/inward/record.url?eid=2-s2.0-49449099541&partnerID=65&md5=4c5ec90a339ec0294636bdba31742e1bTest

    View record in BASE

    أضف إلى المفضلة
  10. 10
    دورية أكاديمية
    Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism : The Growing Spectrum of GNAS Inactivating Mutations

    المؤلفون: F.M. Elli, A.M. Barbieri, P. Beck Peccoz, A. Spada, G. Mantovani, L. Desanctis, B. Ceoloni, P. Bordogna

    المساهمون: F.M. Elli, L. Desancti, B. Ceoloni, A.M. Barbieri, P. Bordogna, P. Beck Peccoz, A. Spada, G. Mantovani

    مصطلحات موضوعية: pseudohypoparathyroidism, type Ia, PHP-Ia, PPHP, GNAS, Settore MED/13 - Endocrinologia

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/23281139; info:eu-repo/semantics/altIdentifier/wos/WOS:000315186400001; volume:34; issue:3; firstpage:411; lastpage:416; journal:HUMAN MUTATION; http://hdl.handle.net/2434/217481Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84873989510

    الإتاحة: https://doi.org/10.1002/humu.22265Test
    http://hdl.handle.net/2434/217481Test

    View record in BASE

    أضف إلى المفضلة
أدوات البحث: أحصل على تغذية RSS — أرسل هذا البحث بالبريد الإلكتروني — حفظ البحث