المؤلفون: Riva A, Gambadauro A, Dipasquale V, Casto C, Ceravolo MD, Accogli A, Scala M, Ceravolo G, Iacomino M, Zara F, Striano P, Cuppari C, Di Rosa G, Cutrupi MC, Salpietro V, Chimenz R.

المساهمون: Riva, A, Gambadauro, A, Dipasquale, V, Casto, C, Ceravolo, Md, Accogli, A, Scala, M, Ceravolo, G, Iacomino, M, Zara, F, Striano, P, Cuppari, C, Di Rosa, G, Cutrupi, Mc, Salpietro, V, Chimenz, R.

مصطلحات موضوعية: KIF17, MAC spectrum, coloboma, congenital eye defects, microphthalmia

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33922911; info:eu-repo/semantics/altIdentifier/wos/WOS:000650385200001; volume:22; issue:9, Article Number 4471; firstpage:1; lastpage:8; numberofpages:8; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11570/3207076Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85104523287; https://www.proquest.com/docview/2528261948?sourcetype=ScholarlyTest Journals

الإتاحة: https://doi.org/10.3390/ijms22094471Test
https://hdl.handle.net/11570/3207076Test
https://www.proquest.com/docview/2528261948?sourcetype=ScholarlyTest Journals

المؤلفون: Cuppari, C, Salpietro, A, Chimenz, R, Colavita, L, Ceravolo, MD, Gitto, E, Sallemi, A, Fusco, M, Ceravolo, I, Farello, G, Iapadre, G, Rocca, C, Salazar, A, Mancuso, A

المساهمون: Cuppari, C, Salpietro, A, Chimenz, R, Colavita, L, Ceravolo, Md, Gitto, E, Sallemi, A, Fusco, M, Ceravolo, I, Farello, G, Iapadre, G, Rocca, C, Salazar, A, Mancuso, A

مصطلحات موضوعية: Joubert syndrome, anomalies oral-facial-digital, neurological anomalies

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000894484100007; volume:21; issue:01; firstpage:58; lastpage:61; numberofpages:4; journal:JOURNAL OF PEDIATRIC NEUROLOGY; https://hdl.handle.net/11570/3271877Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144846794

الإتاحة: https://doi.org/10.1055/s-0042-1759516Test
https://hdl.handle.net/11570/3271877Test

المؤلفون: La Macchia, T, Mancuso, A, Ceravolo, MD, Cuppari, C, Chimenz, R, Farello, G, Gitto, E, Iapadre, G, Ceravolo, I

المساهمون: La Macchia, T, Mancuso, A, Ceravolo, Md, Cuppari, C, Chimenz, R, Farello, G, Gitto, E, Iapadre, G, Ceravolo, I

مصطلحات موضوعية: Alstrom syndrome, ciliopathie, ALMS1, Bardet-Biedl syndrome, obesity

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000894484100001; volume:21; issue:01; firstpage:15; lastpage:17; numberofpages:3; journal:JOURNAL OF PEDIATRIC NEUROLOGY; https://hdl.handle.net/11570/3271874Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144891809

الإتاحة: https://doi.org/10.1055/s-0042-1759535Test
https://hdl.handle.net/11570/3271874Test

المؤلفون: Ceravolo, I, Granata, F, Gitto, E, Iapadre, G, Chimenz, R, Giannitto, N, Mancuso, A, Ceravolo, MD, La Macchia, T, Rissotto, F, Farello, G, Cuppari, C

المساهمون: Ceravolo, I, Granata, F, Gitto, E, Iapadre, G, Chimenz, R, Giannitto, N, Mancuso, A, Ceravolo, Md, La Macchia, T, Rissotto, F, Farello, G, Cuppari, C

مصطلحات موضوعية: Joubert syndrome, genetic classification, ophthalmological abnormalities

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000894484100008; volume:21; issue:01; firstpage:68; lastpage:72; numberofpages:5; journal:JOURNAL OF PEDIATRIC NEUROLOGY; https://hdl.handle.net/11570/3271875Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85144869110

الإتاحة: https://doi.org/10.1055/s-0042-1759536Test
https://hdl.handle.net/11570/3271875Test