نتائج البحث - "Francesca Piceci-Sparascio"

المساهمون: Hozhabri, Hossein, PICECI SPARASCIO, Francesca, Sohrabi, Hamidreza, Mousavifar, Leila, Roy, René, Scribano, Daniela, De Luca, Alessandro, AMBROSI SACCONI ROSATI, Cecilia, Sarsharjeryandeh, Meysam

مصطلحات موضوعية: sars-cov-2, epidemiology, transmission, temperature and humidity, covid-19, pneumonia, diagnosi, ace2, inhibitor, therapeutics strategies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32764417; info:eu-repo/semantics/altIdentifier/wos/WOS:000566391600001; volume:17; issue:16; firstpage:1; lastpage:34; numberofpages:34; journal:INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH; http://hdl.handle.net/11573/1441084Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85089262051

الإتاحة: https://doi.org/10.3390/ijerph17165648Test
http://hdl.handle.net/11573/1441084Test

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6

Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

المساهمون: Piceci-Sparascio, Francesca, Micale, Lucia, Torres, Barbara, Guida, Valentina, Consoli, Federica, Torrente, Isabella, Onori, Annamaria, Frustaci, Emanuela, D'Asdia, Maria Cecilia, Petrizzelli, Francesco, Bernardini, Laura, Mancini, Cecilia, Soli, Fiorenza, Cocciadiferro, Dario, Guadagnolo, Daniele, Mastromoro, Gioia, Putotto, Carolina, Fontana, Franco, Brunetti-Pierri, Nicola, Novelli, Antonio, Pizzuti, Antonio, Marino, Bruno, Digilio, Maria Cristina, Mazza, Tommaso, Dallapiccola, Bruno, Ruiz-Perez, Victor Lui, Tartaglia, Marco, Castori, Marco, De Luca, Alessandro

مصطلحات موضوعية: Genetics, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24f497f83927e0c02f7a9c18c6dc1c7Test
https://hdl.handle.net/11588/907836Test

7

A novel ANO3 variant in two siblings with different phenotypes

المؤلفون: Marcello Esposito, Assunta Trinchillo, Francesca Piceci-Sparascio, Maria Cecilia D'Asdia, Federica Consoli, Alessandro De Luca

المصدر: Parkinsonism & Related Disorders. 111:105413

مصطلحات موضوعية: Neurology, Neurology (clinical), Geriatrics and Gerontology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7dc8957bdbd8b0b22a2e691906f1d328Test
https://doi.org/10.1016/j.parkreldis.2023.105413Test

8

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

المؤلفون: Asier Iturrate, Ana Rivera-Barahona, Carmen-Lisset Flores, Ghada A. Otaify, Rasha Elhossini, Marina L. Perez-Sanz, Julián Nevado, Jair Tenorio-Castano, Juan Carlos Triviño, Francesc R. Garcia-Gonzalo, Francesca Piceci-Sparascio, Alessandro De Luca, Leopoldo Martínez, Tugba Kalaycı, Pablo Lapunzina, Umut Altunoglu, Mona Aglan, Ebtesam Abdalla, Victor L. Ruiz-Perez

المساهمون: Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), National Institutes of Health (US)

المصدر: Am J Hum Genet

مصطلحات موضوعية: Ciliopathy, RNA Splicing, SCNM1, Hedgehog signaling, Orofaciodigital Syndromes, U12 introns, Article, Ciliopathies, Introns, Primary cilia, Minor spliceosome, Mutation, Genetics, Spliceosomes, Humans, Hedgehog Proteins, Orofaciodigital syndrome, Cilia, RNA Splicing Factors, RNA, Small Interfering, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac2eebb2fb424ec12f5591bd111872bTest
https://europepmc.org/articles/PMC9606384Test/

9

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

المصدر: Clinical Genetics. 100:268-279

مصطلحات موضوعية: Heart Defects, Congenital, Adult, Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, 030105 genetics & heredity, Biology, Polymorphism, Single Nucleotide, Gene dosage, Cohort Studies, Congenital, Young Adult, 03 medical and health sciences, Goldenhar Syndrome, Gene duplication, Genetics, medicine, Humans, Copy-number variation, Polymorphism, Craniofacial, Child, Preschool, copy-number-variants, DACH1, DACH2, congenital heart disease, Goldenhar syndrome, oculo-auriculo-vertebral spectrum, PAX-SIX-EYA-DACH network, Gene, Genetics (clinical), Heart Defects, Genetic heterogeneity, Microarray analysis techniques, Infant, Newborn, Infant, Single Nucleotide, DACH1, Newborn, Microarray Analysis, medicine.disease, DACH2, congenital heart disease, Developmental disorder, Child, Preschool, Female, 030104 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4290cfd085a866475ffc40148db4226aTest
https://doi.org/10.1111/cge.13994Test

10

كتاب

Weyers acrofacial dysostosis (WAD)

المؤلفون: Francesca Piceci Sparascio, Maria Cristina Digilio, Bruno Marino, Alessandro De Luca

المساهمون: Francesca Piceci Sparascio, Maria Cristina Digilio, Bruno Marino, Alessandro De Luca, PICECI SPARASCIO, Francesca, Cristina Digilio, Maria, Marino, Bruno, De Luca, Alessandro

مصطلحات موضوعية: nessuna

العلاقة: ispartofbook:Weyers Acrofacial Dysostosis (WAD) (OMIM#193530); https://hdl.handle.net/11573/1285482Test

الإتاحة: https://hdl.handle.net/11573/1285482Test

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