المؤلفون: Sleptsova M, Georgiev C, Atemin S, Dimova P, Avdjieva-Tzavella D, Tacheva G, Litvinenko I, Grozdanova L, Todorov T, Mitev V, Todorova A

المصدر: Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 65-68 (2024)

مصطلحات موضوعية: epha4, whole exome sequencing, epilepsy, novel genetic variant, ophthalmological anomalies, neurodevelopmental delay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2199-5761

URL الوصول: https://doaj.org/article/803898290e104d83b60c1ceb8311e0c3

المؤلفون: Magdalena Rutkowska-Zapała, Anna Szaflarska, Anna Kluczewska, Julia Ciȩciwa, Jacek Plewka, Anna Michalska, Maciej Siedlar

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: X-linked severe combined immunodeficiency, interleukin 2 receptor gamma, dizygotic twins, novel genetic variant, protein structure, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.858166/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/2af000e7753d430ead65937845301317

المؤلفون: Iarossi, Giancarlo, Bertelli, Matteo, Maltese, Paolo Enrico, GUSSON, Elena, MARCHINI, Giorgio, Bruson, Alice, Benedetti, Sabrina, Volpetti, Sabrina, Catena, Gino, Buzzonetti, Luca, Ziccardi, Lucia

المساهمون: Iarossi, Giancarlo, Bertelli, Matteo, Maltese, Paolo Enrico, Gusson, Elena, Marchini, Giorgio, Bruson, Alice, Benedetti, Sabrina, Volpetti, Sabrina, Catena, Gino, Buzzonetti, Luca, Ziccardi, Lucia

مصطلحات موضوعية: familial exudative vitreoretinopathy, genetic variation, phenotype, novel genetic variant, cohort study, Italian patients

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/28758032; info:eu-repo/semantics/altIdentifier/wos/WOS:000405728600001; volume:2017; issue:3080245; firstpage:1; lastpage:10; numberofpages:10; journal:JOURNAL OF OPHTHALMOLOGY; http://hdl.handle.net/11562/967395; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85024486064; https://doi.org/10.1155/2017/3080245

الاتاحة: http://hdl.handle.net/11562/967395
https://doi.org/10.1155/2017/3080245

المؤلفون: Ben Said, Mourad, Belkahia, Hanène, El Mabrouk, Narjesse, Saidani, Mariem, ALBERTI, Alberto, ZOBBA, Rosanna, Cherif, Amal, Mahjoub, Tarek, Bouattour, Ali, Messadi, Lilia

المساهمون: Ben Said, Mourad, Belkahia, Hanène, El Mabrouk, Narjesse, Saidani, Mariem, Alberti, Alberto, Zobba, Rosanna, Cherif, Amal, Mahjoub, Tarek, Bouattour, Ali, Messadi, Lilia

مصطلحات موضوعية: Anaplasma platys-like strain, groEL gene, Novel genetic variant, Ruminant, Specific detection, Tunisia, Microbiology, Ecology, Evolution, Behavior and Systematic, Molecular Biology, Genetic, Microbiology (medical), Infectious Diseases

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000395463900031; volume:49; firstpage:226; lastpage:233; numberofpages:8; journal:INFECTION GENETICS AND EVOLUTION; http://hdl.handle.net/11388/176354; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85010840067; http://www.elsevier.com/locate/meegid

الاتاحة: http://hdl.handle.net/11388/176354
https://doi.org/10.1016/j.meegid.2017.01.023
http://www.elsevier.com/locate/meegid