المؤلفون: Rhamati, L., Marcolla, A., Guerrot, A.M., Lerosey, Y., Goldenberg, A., Serey-Gaut, M., Rio, M., Cormier Daire, V., Baujat, G., Lyonnet, S., Rubinato, E., Jonard, L., Rondeau, S., Rouillon, I., Couloignier, V., Jacquemont, M.L., Dupin Deguine, D., Moutton, S., Vincent, M., Isidor, B., Ziegler, A., Marie, J.P., Marlin, S.

المصدر: International Journal of Pediatric Otorhinolaryngology ; volume 171, page 111606 ; ISSN 0165-5876

الاتاحة: http://dx.doi.org/10.1016/j.ijporl.2023.111606
https://api.elsevier.com/content/article/PII:S0165587623001738?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0165587623001738?httpAccept=text/plain

المؤلفون: Tesolin P., Fiorino S., Lenarduzzi S., Rubinato E., Cattaruzzi E., Ammar L., Castro V., Orzan E., Granata C., Dell'orco D., Morgan A., Girotto G.

المساهمون: Tesolin, P., Fiorino, S., Lenarduzzi, S., Rubinato, E., Cattaruzzi, E., Ammar, L., Castro, V., Orzan, E., Granata, C., Dell'Orco, D., Morgan, A., Girotto, G.

مصطلحات موضوعية: Genotype-phenotype correlation, Pendred syndrome, Whole-exome sequencing

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34680964; volume:12; issue:10; firstpage:"-"; lastpage:"-"; numberofpages:14; journal:GENES; http://hdl.handle.net/11368/2998363; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116900012; https://www.mdpi.com/2073-4425/12/10/1569; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535891/

الاتاحة: http://hdl.handle.net/11368/2998363
https://doi.org/10.3390/genes12101569
https://www.mdpi.com/2073-4425/12/10/1569
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535891/

المؤلفون: Morgan A, Vuckovic D, Krishnamoorthy N, Rubinato E, Ambrosetti U, Castorina P, FRANZE' Annamaria, Vozzi D, La Bianca M, Cappellani S, Di Stazio M, Gasparini P, Girotto G

المساهمون: Morgan, A, Vuckovic, D, Krishnamoorthy, N, Rubinato, E, Ambrosetti, U, Castorina, P, Franze', Annamaria, Vozzi, D, La Bianca, M, Cappellani, S, Di Stazio, M, Gasparini, P, Girotto, G

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000454111500010; volume:27; issue:1; firstpage:70; lastpage:79; numberofpages:10; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11588/838782; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053341134

الاتاحة: http://hdl.handle.net/11588/838782
https://doi.org/10.1038/s41431-018-0229-9

المؤلفون: Jonard, L., Brotto, D., Moreno-Pelayo, M.A., Castillo, I. del, Kremer, H., Pennings, R.J.E., Caria, H., Fialho, G., Boudewyns, A., Camp, G. van, Ołdak, M., Oziębło, D., Deggouj, N., Siati, R.D. De, Gasparini, P., Girotto, G., Verstreken, M., Dossena, S., Roesch, S., Battelino, S., Trebušak Podkrajšek, K., Warnecke, A., Lenarz, T., Lesinski-Schiedat, A., Mondain, M., Roux, A.F., Denoyelle, F., Loundon, N., Serey Gaut, M., Trevisi, P., Rubinato, E., Martini, A., Marlin, S.

المصدر: Audiology Research; 341; 346; 2039-4330; 3; 13; ~Audiology Research~341~346~~~2039-4330~3~13~~

URL: https://repository.ubn.ru.nl/handle/2066/293269

المؤلفون: Tesolin, P., Spedicati, B., Morgan, A., Lenarduzzi, S., Rubinato, E., Santin, A., Troian, M., Marangoni, D., Girotto, G.

المصدر: Journal of Hearing Science; Sep2024, Vol. 14 Issue 3, p118-118, 1/2p

مصطلحات موضوعية: GENETICS of deafness, CONFERENCES & conventions, HEARING disorders, MOLECULAR diagnosis

مصطلحات جغرافية: POLAND

المؤلفون: Mercati, O., Abi Warde, M.T., Lina-Granade, G., Rio, M., Heide, S., de Lonlay, P., Ceballos-Picot, I., Robert, M.P., Couloigner, V., Beltrand, J., Boddaert, N., Rodriguez, D., Rubinato, E., Lapierre, J.M., Merlette, C., Sanquer, S., Rötig, A., Prokisch, H., Lyonnet, S., Loundon, N., Kaplan, J., Bonnefont, J.P., Munnich, A., Besmond, C., Jonard, L., Marlin, S.

المصدر: Eur. J. Med. Genet. 63:104033 (2020)

مصطلحات موضوعية: Prps1, Hearing Loss, Deafness, Arts Syndrome, Intellectual Deficiency

Relation: info:eu-repo/semantics/altIdentifier/pmid/32781272; info:eu-repo/semantics/altIdentifier/wos/WOS:000582460300013; info:eu-repo/semantics/altIdentifier/isbn/1769-7212; info:eu-repo/semantics

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=59950
https://doi.org/10.1016/j.ejmg.2020.104033

المؤلفون: Amaddeo A, Rubinato E, Schleef J, Olenik D, Giglia D, Marchetti F, VENTURA, ALESSANDRO

المساهمون: Amaddeo, A, Rubinato, E, Schleef, J, Olenik, D, Giglia, D, Marchetti, F, Ventura, Alessandro

مصطلحات موضوعية: children

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000341080700001; firstpage:31; lastpage:31; numberofpages:1; journal:JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION; http://hdl.handle.net/11368/2649710; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84907597422

الاتاحة: http://hdl.handle.net/11368/2649710
https://doi.org/10.1097/MPG.0b013e31827e1ec6

المؤلفون: Amaddeo, A, Rubinato, E, Schleef, J, Olenik, D, Giglia, D, Marchetti, F, Ventura, Alessandro

المساهمون: Amaddeo, A, Rubinato, E, Schleef, J, Olenik, D, Giglia, D, Marchetti, F, Ventura, Alessandro

مصطلحات موضوعية: children

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::53f0da312aaee45d289cc12a6f5b4b2e
https://hdl.handle.net/11368/2649710

المؤلفون: Lenarduzzi, S., Vozzi, D., Morgan, A., Rubinato, E., D'Eustacchio, A., Osland, T.M., Rossi, C., Graziano, C., Castorina, P., Ambrosetti, U., Morgutti, M., Girotto, G.

المساهمون: Ministry of Health

المصدر: Hearing Research ; volume 320, page 18-23 ; ISSN 0378-5955

الاتاحة: http://dx.doi.org/10.1016/j.heares.2014.12.006
https://api.elsevier.com/content/article/PII:S0378595514002056?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0378595514002056?httpAccept=text/plain

المؤلفون: Vozzi, D., Morgan, A., Vuckovic, D., D'Eustacchio, A., Abdulhadi, K., Rubinato, E., Badii, R., Gasparini, P., Girotto, G.

المصدر: Gene ; volume 542, issue 2, page 209-216 ; ISSN 0378-1119

الاتاحة: http://dx.doi.org/10.1016/j.gene.2014.03.033
https://api.elsevier.com/content/article/PII:S037811191400328X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S037811191400328X?httpAccept=text/plain

المؤلفون: Giorgia Girotto, Daniele Dell'Orco, Anna Morgan, Paola Tesolin, Elisa Rubinato, Lydie Ammar, Claudio Granata, Eva Orzan, Stefania Lenarduzzi, Sofia Fiorino, Elisabetta Cattaruzzi, Veronica Castro

المساهمون: Tesolin, P., Fiorino, S., Lenarduzzi, S., Rubinato, E., Cattaruzzi, E., Ammar, L., Castro, V., Orzan, E., Granata, C., Dell'Orco, D., Morgan, A., Girotto, G.

المصدر: Genes, Vol 12, Iss 1569, p 1569 (2021)
Genes
Volume 12
Issue 10

مصطلحات موضوعية: Adult, Male, Candidate gene, Genotype-phenotype correlation, Adolescent, Pendred syndrome, Hearing Loss, Sensorineural, Myosin Type V, Biology, genotype-phenotype correlation, QH426-470, Compound heterozygosity, Article, Young Adult, Exome Sequencing, medicine, otorhinolaryngologic diseases, Genetics, Humans, Genetic Predisposition to Disease, Multiplex ligation-dependent probe amplification, Whole-Exome Sequencing, Child, Genetics (clinical), Exome sequencing, Genetic Association Studies, Haplotype, Infant, medicine.disease, Major gene, Whole-exome sequencing, Haplotypes, Sulfate Transporters, Child, Preschool, Mutation, Female, Protein stabilization, Goiter, Nodular

وصف الملف: ELETTRONICO; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5755daf18d83ba00688a60d0ea122d15
https://www.mdpi.com/2073-4425/12/10/1569

المؤلفون: Navaneethakrishnan Krishnamoorthy, Elisa Rubinato, Martina La Bianca, Paolo Gasparini, Umberto Ambrosetti, Diego Vozzi, Annamaria Franzè, Dragana Vuckovic, Giorgia Girotto, Mariateresa Di Stazio, Pierangela Castorina, Stefania Cappellani, Anna Morgan

المساهمون: Morgan, A, Vuckovic, D, Krishnamoorthy, N, Rubinato, E, Ambrosetti, U, Castorina, P, Franze', Annamaria, Vozzi, D, La Bianca, M, Cappellani, S, Di Stazio, M, Gasparini, P, Girotto, G, Morgan, Anna, Vuckovic, Dragana, Krishnamoorthy, Navaneethakrishnan, Rubinato, Elisa, Ambrosetti, Umberto, Castorina, Pierangela, Franzè, Annamaria, Vozzi, Diego, La Bianca, Martina, Cappellani, Stefania, Di Stazio, Mariateresa, Gasparini, Paolo, Girotto, Giorgia

المصدر: European Journal of Human Genetics

مصطلحات موضوعية: Male, Candidate gene, Next-generation Sequencing, Hearing loss, Hearing Loss, SPATC1L, Population, Mutation, Missense, Biology, Article, Frameshift mutation, 03 medical and health sciences, Mice, Genetics, medicine, otorhinolaryngologic diseases, Missense mutation, Animals, Humans, Allele, education, Hearing Lo, Genetics (clinical), Exome sequencing, Genetic association, Genetics & Heredity, 0604 Genetics, 0303 health sciences, education.field_of_study, Protein Stability, 030305 genetics & heredity, Middle Aged, Cytoskeletal Proteins, HEK293 Cells, Codon, Nonsense, Female, medicine.symptom

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae2bb0c752abeb137a4c61cfc7cb6b42
http://hdl.handle.net/11368/2928872