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1دورية أكاديمية
المؤلفون: Viola Trevisani, Eleonora Balestri, Manuela Napoli, Stefano Giuseppe Caraffi, Maria Chiara Baroni, Francesca Peluso, Anna Colonna, Lorenzo Iughetti, Giancarlo Gargano, Andrea Superti-Furga, Livia Garavelli
المصدر: Genes, Vol 14, Iss 9, p 1745 (2023)
مصطلحات موضوعية: diprosopus, diprosopia, craniofacial duplication, case report, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديميةSplit Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes
المؤلفون: Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, Maria Grazia Giuffrida, Valentina Guida, Francesca Peluso, Maria Chiara Baroni, Valeria Polizzi, Manuela Napoli, Simonetta Rosato, Gabriele Trimarchi, Chiara Gelmini, Stefano Giuseppe Caraffi, Anita Wischmeijer, Daniele Frattini, Antonio Novelli, Livia Garavelli
المصدر: Genes, Vol 14, Iss 8, p 1526 (2023)
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Marco Tartaglia, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
المصدر: Genes, Vol 14, Iss 3, p 549 (2023)
مصطلحات موضوعية: capillary malformation-arteriovenous malformation (CM-AVM), RASA1, prenatal findings, polyhydramnios, non-immune fetal hydrops, chylothorax, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
مصطلحات موضوعية: KARS, Mitochondrial diseases, Encephalohepatopathy, Leopard-like retinopathy, ARSs, Case report, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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5دورية أكاديمية
المؤلفون: Giulia Trippella, Paolo Lionetti, Sara Naldini, Francesca Peluso, Matteo Della Monica, Stefano Stagi
المصدر: Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-7 (2018)
مصطلحات موضوعية: Trichorhinophalangeal syndrome, TRPS, Growth retardation, Sparse hair, Bulbous nasal tip, Short fingers, Pediatrics, RJ1-570
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13052-018-0580-zTest; https://doaj.org/toc/1824-7288Test
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6دورية أكاديمية
المؤلفون: Ilenia Maini, Stefano G. Caraffi, Francesca Peluso, Lara Valeri, Davide Nicoli, Steven Laurie, Chiara Baldo, Orsetta Zuffardi, Livia Garavelli
المصدر: Genes, Vol 12, Iss 6, p 900 (2021)
مصطلحات موضوعية: NAA10-related syndrome, X-linked disorder, syndromic and non-syndromic intellectual disability, genotype–phenotype correlation, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli
المصدر: Genes, Vol 12, Iss 7, p 962 (2021)
مصطلحات موضوعية: KATNB1, lissencephaly 6, microcephaly, FAT1, microphthalmia, preaxial polydactyly, Genetics, QH426-470
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Marziali, Elisa, van den Broeck, Filip, Bargiacchi, Sara, Fortunato, Pina, Caputo, Roberto, Sodi, Andrea, de Zaeytijd, Julie, Murro, Vittoria, Mucciolo, Dario, Pasquale, Giorgio, Dario, Passerini, Ilaria, Palazzo, Viviana, Francesca, Peluso, de Baere, Elfride, Zeitz, Christina, Leroy, Bart, P, Secci, Jacopo, Bacci, Giacomo, M
المساهمون: Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)
المصدر: ISSN: 1381-6810.
مصطلحات موضوعية: CACNA1F gene optic neuropathy congenital stationary night blindness myopia ganglion cell loss, CACNA1F gene, optic neuropathy, congenital stationary night blindness, myopia, ganglion cell loss, [SDV]Life Sciences [q-bio]
العلاقة: hal-03965321; https://cnrs.hal.science/hal-03965321Test; https://cnrs.hal.science/hal-03965321/documentTest; https://cnrs.hal.science/hal-03965321/file/CACNA1Foptic%20HAL.pdfTest
الإتاحة: https://doi.org/10.1080/13816810.2022.2132514Test
https://cnrs.hal.science/hal-03965321Test
https://cnrs.hal.science/hal-03965321/documentTest
https://cnrs.hal.science/hal-03965321/file/CACNA1Foptic%20HAL.pdfTest -
9مؤتمر
المؤلفون: Francesca Peluso (10022023), Viviana Palazzo (10022026), Giuseppe Indolfi (366873), Francesco Mari (4126309), Roberta Pasqualetti (4249783), Elena Procopio (3177807), Claudia Nesti (5541614), Renzo Guerrini (213811), Filippo Santorelli (3448487), Sabrina Giglio (10022029)
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Molecular Biology, Neuroscience, Biotechnology, Cancer, Virology, Computational Biology, Chemical Sciences not elsewhere classified, KARS, Mitochondrial diseases, Encephalohepatopathy, Leopard-like retinopathy, ARSs, Case report
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10مؤتمر
المؤلفون: Francesca Peluso (10022023), Viviana Palazzo (10022026), Giuseppe Indolfi (366873), Francesco Mari (4126309), Roberta Pasqualetti (4249783), Elena Procopio (3177807), Claudia Nesti (5541614), Renzo Guerrini (213811), Filippo Santorelli (3448487), Sabrina Giglio (10022029)
مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Molecular Biology, Neuroscience, Biotechnology, Cancer, Virology, Computational Biology, Chemical Sciences not elsewhere classified, KARS, Mitochondrial diseases, Encephalohepatopathy, Leopard-like retinopathy, ARSs, Case report