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Wyszukujesz frazę ""De Luca, Alessandro"" wg kryterium: Autor

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    Wyświetlanie 1-14 z 14
    Tytuł:
    RASopathies and hemostatic abnormalities: key role of platelet dysfunction.
    Autorzy:
    Di Candia F; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy.
    Marchetti V; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy.
    Cirillo F; Regional Reference Centre for Coagulation Disorders, Department of Clinical and Experimental Medicine, Federico II University of Naples, Naples, Italy.
    Di Minno A; Regional Reference Centre for Coagulation Disorders, Department of Clinical and Experimental Medicine, Federico II University of Naples, Naples, Italy.
    Rosano C; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy.
    Pagano S; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy.
    Siano MA; Department of Medicine, Surgery and Dentistry, University of Salerno, Baronissi, Salerno, Italy.; Pediatric Unit, San Giovanni di Dio e Ruggi d'Aragona University Hospital, Salerno, Italy.
    Falco M; Pediatric Unit, San Giovanni di Dio e Ruggi d'Aragona University Hospital, Salerno, Italy.
    Assunto A; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy.
    Boccia G; Department of Medicine, Surgery and Dentistry, University of Salerno, Baronissi, Salerno, Italy.
    Magliacane G; Clinic Pathology, San Giovanni di Dio e Ruggi d'Aragona University Hospital, Salerno, Italy.
    Pinna V; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
    De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
    Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
    Di Minno G; Regional Reference Centre for Coagulation Disorders, Department of Clinical and Experimental Medicine, Federico II University of Naples, Naples, Italy.
    Strisciuglio P; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy.
    Melis D; Dipartimento di Scienze Mediche Traslazionali, Università degli studi di Napoli Federico II, Naples, Italy. .; Department of Medicine, Surgery and Dentistry, University of Salerno, Baronissi, Salerno, Italy. .; Pediatric Unit, San Giovanni di Dio e Ruggi d'Aragona University Hospital, Salerno, Italy. .
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Dec 02; Vol. 16 (1), pp. 499. Date of Electronic Publication: 2021 Dec 02.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Hemostatics*
    Noonan Syndrome*/diagnosis
    Noonan Syndrome*/genetics
    Blood Coagulation Tests/adverse effects ; Blood Coagulation Tests/methods ; Blood Platelets ; Child ; Hemorrhage ; Humans ; Transcription Factors
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    External hydrocephalus as a prenatal feature of noonan syndrome.
    Autorzy:
    Mastromoro G; Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy.
    De Luca A; Ospedale Casa Sollievo della Sofferenza, Mendel Institute, San Giovanni Rotondo, Italy.
    Marchionni E; Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy.
    Spagnuolo A; Centro Sant'Anna ASL Roma1, Rome, Italy.
    Ventriglia F; Department of Pediatrics, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy.
    Manganaro L; Department of Radiological Science, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy.
    Pizzuti A; Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy.; Ospedale Casa Sollievo della Sofferenza, Mendel Institute, San Giovanni Rotondo, Italy.
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    Źródło:
    Annals of human genetics [Ann Hum Genet] 2021 Nov; Vol. 85 (6), pp. 249-252. Date of Electronic Publication: 2021 Jun 02.
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    Hydrocephalus/*diagnosis
    Noonan Syndrome/*diagnosis
    Female ; Humans ; Mutation ; Noonan Syndrome/genetics ; Pregnancy ; Prenatal Diagnosis ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
    Autorzy:
    Pinna V; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
    Lanari V; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
    Daniele P; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
    Consoli F; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
    Agolini E; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
    Margiotti K; 1] IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy [2] PRABB-Centro Integrato di Ricerca, Campus Bio-Medico University, Rome, Italy.
    Bottillo I; 1] IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy [2] Division of Medical Genetics, Department of Molecular Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy.
    Torrente I; 1] IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy [2] San Camillo-Forlanini Hospital, Rome, Italy.
    Bruselles A; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
    Fusilli C; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
    Ficcadenti A; Pediatric Division, Department of Clinical Sciences, Rare Diseases Regional Centre, Polytechnic University of Marche Ospedali Riuniti, Ancona, Italy.
    Bargiacchi S; Genetics and Molecular Medicine Unit, Anna Meyer Children's University Hospital, Florence, Italy.
    Trevisson E; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
    Forzan M; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
    Giustini S; Department of Dermatology, Sapienza University of Rome, Policlinico Umberto I, Rome, Italy.
    Leoni C; Istituto di Clinica Pediatrica, Università Cattolica del Sacro Cuore, Rome, Italy.
    Zampino G; Istituto di Clinica Pediatrica, Università Cattolica del Sacro Cuore, Rome, Italy.
    Digilio MC; Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
    Dallapiccola B; Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
    Clementi M; Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
    Tartaglia M; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
    De Luca A; IRCCS-Casa Sollievo della Sofferenza Hospital, Mendel Institute, Rome, Italy.
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    Źródło:
    European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Aug; Vol. 23 (8), pp. 1068-71. Date of Electronic Publication: 2014 Nov 05.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Neurofibroma/*genetics
    Neurofibromatosis 1/*genetics
    Neurofibromin 1/*genetics
    Noonan Syndrome/*genetics
    Amino Acid Substitution/genetics ; Genetic Counseling ; Humans ; Mutation, Missense ; Neurofibroma/diagnosis ; Neurofibroma/pathology ; Neurofibromatosis 1/diagnosis ; Neurofibromatosis 1/pathology ; Noonan Syndrome/diagnosis ; Noonan Syndrome/pathology ; Pedigree ; Phenotype
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Further case of enlarged spinal nerve roots in KRAS‐related Noonan syndrome.
    Autorzy:
    Leoni, Chiara
    Viscogliosi, Germana
    Onesimo, Roberta
    Verdolotti, Tommaso
    Biagini, Tommaso
    Mazza, Tommaso
    De Luca, Alessandro
    Perri, Lucrezia
    Trevisan, Valentina
    Flex, Elisabetta
    Tartaglia, Marco
    Zampino, Giuseppe
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    Temat:
    NOONAN syndrome
    SPINAL nerve roots
    ANATOMICAL planes
    WECHSLER Adult Intelligence Scale
    HEART abnormalities
    Źródło:
    Clinical Genetics; Jul2023, Vol. 104 Issue 1, p136-138, 3p
    Czasopismo naukowe
    Szczegóły
    Tytuł:
    De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
    Autorzy:
    Holt, Richard J. (AUTHOR)
    Young, Rodrigo M. (AUTHOR)
    Crespo, Berta (AUTHOR)
    Ceroni, Fabiola (AUTHOR)
    Curry, Cynthia J. (AUTHOR)
    Bellacchio, Emanuele (AUTHOR)
    Bax, Dorine A. (AUTHOR)
    Ciolfi, Andrea (AUTHOR)
    Simon, Marleen (AUTHOR)
    Fagerberg, Christina R. (AUTHOR)
    van Binsbergen, Ellen (AUTHOR)
    De Luca, Alessandro (AUTHOR)
    Memo, Luigi (AUTHOR)
    Dobyns, William B. (AUTHOR)
    Mohammed, Alaa Afif (AUTHOR)
    Clokie, Samuel J.H. (AUTHOR)
    Zazo Seco, Celia (AUTHOR)
    Jiang, Yong-Hui (AUTHOR)
    Sørensen, Kristina P. (AUTHOR)
    Andersen, Helle (AUTHOR)
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    Temat:
    UBIQUITINATION
    BRAIN
    PECTORAL fins
    FORELIMB
    NOONAN syndrome
    FETAL tissues
    Źródło:
    American Journal of Human Genetics. Sep2019, Vol. 105 Issue 3, p640-657. 18p.
    Czasopismo naukowe
    Szczegóły
      Wyświetlanie 1-14 z 14

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