المؤلفون: Michele Dei Cas, Linda Montavoci, Claudia Pasini, Anna Caretti, Sara Penati, Carla Martinelli, Umberto Gianelli, Sara Casati, Francesca Nardecchia, Annalaura Torella, Nicola Brunetti-Pierri, Marco Trinchera

المصدر: Journal of Lipid Research, Vol 65, Iss 3, Pp 100517- (2024)

مصطلحات موضوعية: sphingolipids, ceramides, lipidomics, brain lipids, glycolipids, hypomyelinating leukodystrophy 18, Biochemistry, QD415-436

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S0022227524000221Test; https://doaj.org/toc/0022-2275Test

الوصول الحر: https://doaj.org/article/c066db706c1b439f81926ed07b97410dTest

المؤلفون: Pavel Strnad, Christina Schrader, Nicola Brunetti-Pierri

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 1, Pp 101198- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050124000147Test; https://doaj.org/toc/2329-0501Test

الوصول الحر: https://doaj.org/article/1e1f6e660e0540a3b9c0f7097fc0cf96Test

المؤلفون: Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/cd5cc9ecdd2c4821a6750da1e26f46ceTest

المؤلفون: Iolanda Boffa, Elena Polishchuk, Lucia De Stefano, Fabio Dell'Aquila, Edoardo Nusco, Elena Marrocco, Matteo Audano, Silvia Pedretti, Marianna Caterino, Ilaria Bellezza, Margherita Ruoppolo, Nico Mitro, Barbara Cellini, Alberto Auricchio, Nicola Brunetti‐Pierri

المصدر: EMBO Molecular Medicine, Vol 15, Iss 4, Pp n/a-n/a (2023)

مصطلحات موضوعية: AAV, gyrate atrophy of choroid and retina, inherited metabolic diseases, liver gene therapy, ornithine aminotransferase, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test

الوصول الحر: https://doaj.org/article/e07eec5ef9114bf685675cb9215d0081Test

المؤلفون: Leandro R. Soria, Georgios Makris, Alfonso M. D’Alessio, Angela De Angelis, Iolanda Boffa, Veronica M. Pravata, Véronique Rüfenacht, Sergio Attanasio, Edoardo Nusco, Paola Arena, Andrew T. Ferenbach, Debora Paris, Paola Cuomo, Andrea Motta, Matthew Nitzahn, Gerald S. Lipshutz, Ainhoa Martínez-Pizarro, Eva Richard, Lourdes R. Desviat, Johannes Häberle, Daan M. F. van Aalten, Nicola Brunetti-Pierri

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-14 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/f7dd4ac66ee843bca09996d7cef4b0deTest

المؤلفون: Nicola Brunetti-Pierri, Paul Gissen

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 488-490 (2022)

مصطلحات موضوعية: gene therapy, hydrodynamic injections, hydrodynamic retrograde intrabiliary injection, nonviral vectors, ornithine transcarbamylase deficiency, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050122001619Test; https://doaj.org/toc/2329-0501Test

الوصول الحر: https://doaj.org/article/e698e56bc67a466da8fd2059e1a4ccfeTest

المؤلفون: Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens‐Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti‐Pierri, Alyssa Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregola, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner

المصدر: EMBO Molecular Medicine, Vol 15, Iss 3, Pp n/a-n/a (2023)

مصطلحات موضوعية: drug screening, formylglycine‐generating enzyme, lysosomal disorder, retinoids, sulfatase‐modifying factor 1, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test

الوصول الحر: https://doaj.org/article/b678e69f8129428e87e0aebc0aa61cd4Test

المؤلفون: Nicola Brunetti-Pierri

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 26, Iss , Pp 72-73 (2022)

مصطلحات موضوعية: Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2329050122000699Test; https://doaj.org/toc/2329-0501Test

الوصول الحر: https://doaj.org/article/2ee44f9752e14d28bc65181d55bca8caTest

المؤلفون: Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

المصدر: HGG Advances, Vol 3, Iss 1, Pp 100075- (2022)

مصطلحات موضوعية: Episignatures, Neurodevelopmental disorders, DNA methylation, Epigenetics, Clinical diagnostics, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247721000567Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/625f01b427784d528fd75cff511b4125Test

المؤلفون: Sem J. Aronson, Norman Junge, Médiha Trabelsi, Wided Kelmemi, Aurélie Hubert, Karlla W. Brigatti, Michael D. Fox, Robert J. de Knegt, Johanna C. Escher, Virginia Maria Ginocchio, Raffaele Iorio, Yan Zhu, Figen Özçay, Fakher Rahim, Mortada El-Shabrawi, Eyal Shteyer, Angelo Di Giorgio, Lorenzo D'Antiga, Federico Mingozzi, Nicola Brunetti‐Pierri, Kevin A. Strauss, Philippe Labrune, Ridha Mrad, Ulrich Baumann, Ulrich Beuers, Piter J. Bosma

مصطلحات موضوعية: Management of Hyperbilirubinemia in Newborn Infants, Pediatrics, Perinatology and Child Health, Medicine, Health Sciences, Heme Oxygenase and Carbon Monoxide Research, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Genetic and Clinical Aspects of Hemoglobin Disorders, Genetics, FOS Biological sciences, Neurotoxicity, Cohort, Disease, Pediatrics, Bilirubin, Cohort study, Internal medicine

العلاقة: https://dx.doi.org/10.60692/dx69v-mgc93Test

الإتاحة: https://doi.org/10.60692/tjj72-nc43310.60692/dx69v-mgc93Test