نتائج البحث - "Francesca Novara"

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دورية أكاديمية

Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

المؤلفون: Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/27b33b301108451781fc2f2c96624f98

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دورية أكاديمية

Publisher Correction: Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

المؤلفون: Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar Augusto Prada-Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-1 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/d0d5481afd794735a1ae4c2da1a07b3f

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3

دورية أكاديمية

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome—first report of an ad hoc task force

المؤلفون: Berardo Rinaldi, Alessandro Vaisfeld, Sergio Amarri, Chiara Baldo, Giuseppe Gobbi, Pamela Magini, Erto Melli, Giovanni Neri, Francesca Novara, Tommaso Pippucci, Romana Rizzi, Annarosa Soresina, Laura Zampini, Orsetta Zuffardi, Marco Crimi

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-11 (2017)

مصطلحات موضوعية: Ring14 syndrome, Recommendations, Caregivers, Best practices, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0606-4; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/53a9c144620f4daf9ef46f3a65eb4e27

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4

دورية أكاديمية

A Therapeutic Challenge: Liddle’s Syndrome Managed with Amiloride during Pregnancy

المؤلفون: Amelia Caretto, Liviana Primerano, Francesca Novara, Orsetta Zuffardi, Stefano Genovese, Maurizio Rondinelli

المصدر: Case Reports in Obstetrics and Gynecology, Vol 2014 (2014)

مصطلحات موضوعية: Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-6684; https://doaj.org/toc/2090-6692

URL الوصول: https://doaj.org/article/e4f6387989c049ceb22e9b6800c31cfb

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5

دورية أكاديمية

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome.

المؤلفون: Maria Clara Bonaglia, Roberto Giorda, Silvana Beri, Cristina De Agostini, Francesca Novara, Marco Fichera, Lucia Grillo, Ornella Galesi, Annalisa Vetro, Roberto Ciccone, Maria Teresa Bonati, Sabrina Giglio, Renzo Guerrini, Sara Osimani, Susan Marelli, Claudio Zucca, Rita Grasso, Renato Borgatti, Elisa Mani, Cristina Motta, Massimo Molteni, Corrado Romano, Donatella Greco, Santina Reitano, Anna Baroncini, Elisabetta Lapi, Antonella Cecconi, Giulia Arrigo, Maria Grazia Patricelli, Chiara Pantaleoni, Stefano D'Arrigo, Daria Riva, Francesca Sciacca, Bernardo Dalla Bernardina, Leonardo Zoccante, Francesca Darra, Cristiano Termine, Emanuela Maserati, Stefania Bigoni, Emanuela Priolo, Armand Bottani, Stefania Gimelli, Frederique Bena, Alfredo Brusco, Eleonora di Gregorio, Irene Bagnasco, Ursula Giussani, Lucio Nitsch, Pierluigi Politi, Maria Luisa Martinez-Frias, Maria Luisa Martínez-Fernández, Nieves Martínez Guardia, Anna Bremer, Britt-Marie Anderlid, Orsetta Zuffardi

المصدر: PLoS Genetics, Vol 7, Iss 7, p e1002173 (2011)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3136441?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

URL الوصول: https://doaj.org/article/5c43355a53914e768e4abdfa928036cf

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6

دورية أكاديمية

Generation of mesenchymal stromal cells in the presence of platelet lysate: a phenotypic and functional comparison of umbilical cord blood- and bone marrow-derived progenitors

المؤلفون: Maria Antonietta Avanzini, Maria Ester Bernardo, Angela Maria Cometa, Cesare Perotti, Nadia Zaffaroni, Francesca Novara, Livia Visai, Antonia Moretta, Claudia Del Fante, Raffaella Villa, Lynne M. Ball, Willem E. Fibbe, Rita Maccario, Franco Locatelli

المصدر: Haematologica, Vol 94, Iss 12 (2009)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/5429; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/72d422f44a4c46218e3ccc59158031a6

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7

دورية أكاديمية

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

المؤلفون: Valerio Conti, author¹, Aurelie Carabalona, author^{2, 3, 15}, Emilie Pallesi-Pocachard, author^{2, 3, 4}, Richard J. Leventer, author^{5, 6, 7}, Fabienne Schaller, author^{2, 3, 8}, Elena Parrini, author¹, Agathe A. Deparis, author^{2, 3}, Françoise Watrin, author^{2, 3}, Emmanuelle Buhler, author^{2, 3, 8}, Francesca Novara, author⁹, Stefano Lise, author¹⁰, Alistair T. Pagnamenta, author¹⁰, Usha Kini, author¹¹, Jenny C. Taylor, author¹⁰, Orsetta Zuffardi, author^{9, 12}, Alfonso Represa, author^{2, 3}, David Antony Keays, author¹³, Renzo Guerrini, author^{1, 14}, Antonio Falace, author^{2, 3}, Carlos Cardoso, author^{2, 3}

المصدر: Journal of Visualized Experiments. (130)

الإتاحة: http://www.jove.com/video/53570

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SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

المصدر: medRxiv

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d78967a32ce84431daf9ab39c0fd6033
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7

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Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve Split-Hand/Foot Malformation type 3

المؤلفون: Giulia Cova, Juliane Glaser, Robert Schöpflin, Salaheddine Ali, Cesar Augusto Prada-Medina, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0d75a7cb6dc244a85180959b27d40ac6
https://doi.org/10.1101/2022.02.09.479724

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Impact of Different Measures of Body Size on the Radiation Dose During Coronary Angiography and Percutaneous Coronary Intervention: Results from a Large Single Center Cohort

المؤلفون: Monica Verdoia, Pierpaolo Pipan, Orazio Viola, Marta Francesca Brancati, Sara La Cognata, Francesca Novara, Filippo Bristot, Giuseppina D’Amico, Cinzia Ravetto, Massimo Fusco, Paolo Giachino, Manuela Tonella, Davide Maccagni, Pier Luigi Soldà, Marco Marcolongo

المصدر: Angiology. 73(5)

مصطلحات موضوعية: Male, Percutaneous Coronary Intervention, Body Size, Humans, Female, Radiation Exposure, Cardiology and Cardiovascular Medicine, Coronary Angiography, Radiation Dosage

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aa11f1224e1548629dd59f432b0678a
https://pubmed.ncbi.nlm.nih.gov/35049400

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