المؤلفون: Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D’Ursi, Lidia Larizza

المساهمون: E.A. Colombo, M. Valiante, M. Uggeri, A. Orro, S. Majore, P. Grammatico, D. Gentilini, P. Finelli, C.C.G. Gervasini, P. D’Ursi, L. Larizza

مصطلحات موضوعية: FG repeat, NUP98 variant, Rothmund–Thomson spectrum, endocrine perturbation, intrinsic disordered region, juvenile cataract, protein molecular modeling, whole exome sequencing, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/36835439; info:eu-repo/semantics/altIdentifier/wos/WOS:000938577900001; volume:24; issue:4; firstpage:1; lastpage:19; numberofpages:19; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/2434/963157; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149052925

الاتاحة: https://hdl.handle.net/2434/963157
https://doi.org/10.3390/ijms24044028

المؤلفون: Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D’Ursi, Lidia Larizza

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 4; Pages: 4028

مصطلحات موضوعية: Rothmund–Thomson spectrum, juvenile cataracts, endocrine perturbation, whole exome sequencing, NUP98 variants, FG repeats, intrinsic disordered regions, protein molecular modeling

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms24044028

الاتاحة: https://doi.org/10.3390/ijms24044028

المؤلفون: Elisa Adele Colombo, Michele Valiante, Matteo Uggeri, Alessandro Orro, Silvia Majore, Paola Grammatico, Davide Gentilini, Palma Finelli, Cristina Gervasini, Pasqualina D’Ursi, Lidia Larizza

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 4, p 4028 (2023)

مصطلحات موضوعية: Rothmund–Thomson spectrum, juvenile cataracts, endocrine perturbation, whole exome sequencing, NUP98 variants, FG repeats, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/24/4/4028; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/e430042c2711434aa7c76460616056b7

الاتاحة: https://doi.org/10.3390/ijms24044028
https://doaj.org/article/e430042c2711434aa7c76460616056b7

المؤلفون: Colombo, Elisa Adele, Valiante, Michele, Uggeri, Matteo, Orro, Alessandro, Majore, Silvia, Grammatico, Paola, Gentilini, Davide, Finelli, Palma, Gervasini, Cristina, D'Ursi, Pasqualina, Larizza, Lidia

المساهمون: Colombo, Elisa Adele, Valiante, Michele, Uggeri, Matteo, Orro, Alessandro, Majore, Silvia, Grammatico, Paola, Gentilini, Davide, Finelli, Palma, Gervasini, Cristina, D'Ursi, Pasqualina, Larizza, Lidia

مصطلحات موضوعية: FG repeat, NUP98 variant, Rothmund–Thomson spectrum, endocrine perturbation, intrinsic disordered region, juvenile cataract, protein molecular modeling, whole exome sequencing

Relation: info:eu-repo/semantics/altIdentifier/pmid/36835439; info:eu-repo/semantics/altIdentifier/wos/WOS:000938577900001; volume:24; issue:4; firstpage:4028; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11573/1687412; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149052925

الاتاحة: https://hdl.handle.net/11573/1687412
https://doi.org/10.3390/ijms24044028

المؤلفون: Colombo, Elisa Adele, Valiante, Michele, Uggeri, Matteo, Orro, Alessandro, Majore, Silvia, Grammatico, Paola, Gentilini, Davide, Finelli, Palma, Gervasini, Cristina, D'Ursi, Pasqualina, Larizza, Lidia

المساهمون: Colombo, Elisa Adele, Valiante, Michele, Uggeri, Matteo, Orro, Alessandro, Majore, Silvia, Grammatico, Paola, Gentilini, Davide, Finelli, Palma, Gervasini, Cristina, D'Ursi, Pasqualina, Larizza, Lidia

مصطلحات موضوعية: FG repeat, NUP98 variant, Rothmund–Thomson spectrum, endocrine perturbation, intrinsic disordered region, juvenile cataract, protein molecular modeling, whole exome sequencing

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/36835439; info:eu-repo/semantics/altIdentifier/wos/WOS:000938577900001; volume:24; issue:4; firstpage:4028; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11571/1477743; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85149052925

الاتاحة: https://hdl.handle.net/11571/1477743
https://doi.org/10.3390/ijms24044028