المؤلفون: Sorrentino, Ugo^1,2,3 (AUTHOR) ugo.sorrentino@unipd.it, Boesch, Sylvia⁴ (AUTHOR), Doummar, Diane⁵ (AUTHOR), Ravelli, Claudia⁵ (AUTHOR), Serranova, Tereza⁶ (AUTHOR), Indelicato, Elisabetta⁴ (AUTHOR), Winkelmann, Juliane^1,2,7,8 (AUTHOR), Burglen, Lydie^9,10 (AUTHOR), Jech, Robert⁶ (AUTHOR), Zech, Michael^1,2,11 (AUTHOR)

المصدر: Journal of Neurology. May2024, Vol. 271 Issue 5, p2859-2865. 7p.

مصطلحات موضوعية: *MOVEMENT disorders, *AUTISM spectrum disorders, *PHENOTYPES, *BRAIN abnormalities, *SYMPTOMS, *GENETIC variation

المؤلفون: Guarneri, Cristina, Reschini, Marco, Pinna, Monica, Perego, Lucia, Sanzani, Elena, Somigliana, Edgardo, Sorrentino, Ugo, Cassina, Matteo, Zuccarello, Daniela, Ciaffaglione, Marta

المصدر: Journal of Assisted Reproduction & Genetics; May2024, Vol. 41 Issue 5, p1173-1179, 7p

مصطلحات موضوعية: BLASTOCYST, GENETIC testing, EMBRYO transfer, PREGNANCY, EMBRYOS, BIOPSY

المؤلفون: Sorrentino, Ugo, Romito, Luigi M., Garavaglia, Barbara, Fichera, Mario, Colangelo, Isabel, Prokisch, Holger, Winkelmann, Juliane, Necpal, Jan, Jech, Robert, Zech, Michael

المصدر: Tremor and Other Hyperkinetic Movements

مصطلحات موضوعية: Munich Cluster for Systems Neurology (SyNergy), ddc:610

وصف الملف: application/pdf

العلاقة: Sorrentino, Ugo ORCID logoorcid:0000-0001-8139-6198; Romito, Luigi M. ORCID logoorcid:0000-0002-6772-1035; Garavaglia, Barbara ORCID logoorcid:0000-0003-4323-9145; Fichera, Mario ORCID logoorcid:0000-0002-9609-3787; Colangelo, Isabel ORCID logoorcid:0000-0001-6402-9417; Prokisch, Holger ORCID logoorcid:0000-0003-2379-6286; Winkelmann, Juliane ORCID logoorcid:0000-0002-3074-599X; Necpal, Jan ORCID logoorcid:0000-0002-4626-9588; Jech, Robert ORCID logoorcid:0000-0002-9732-8947 und Zech, Michael ORCID logoorcid:0000-0001-8112-9153 (2024): Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant. In: Tremor and Other Hyperkinetic Movements, Bd. 14, Nr. 1, 16: S. 1-9 [PDF, 2MB]; https://epub.ub.uni-muenchen.de/117832/1/661680c06563a.pdfTest; http://nbn-resolving.de/urn:nbn:de:bvb:19-epub-117832-5Test; https://epub.ub.uni-muenchen.de/117832Test/

الإتاحة: https://doi.org/10.5334/tohm.858Test
https://epub.ub.uni-muenchen.de/117832/1/661680c06563a.pdfTest
https://epub.ub.uni-muenchen.de/117832Test/
http://nbn-resolving.de/urn:nbn:de:bvb:19-epub-117832-5Test

المؤلفون: Zuccarello, Daniela, Sorrentino, Ugo, Brasson, Valeria, Marin, Loris, Piccolo, Chiara, Capalbo, Antonio, Andrisani, Alessandra, Cassina, Matteo

المصدر: Journal of Assisted Reproduction and Genetics ; volume 39, issue 4, page 801-816 ; ISSN 1058-0468 1573-7330

مصطلحات موضوعية: Genetics (clinical), Developmental Biology, Obstetrics and Gynecology, Genetics, Reproductive Medicine, General Medicine

الإتاحة: https://doi.org/10.1007/s10815-022-02451-xTest

المؤلفون: Persico, Tiziana, Tranquillo, Maria Lucrezia, Seracchioli, Renato, Zuccarello, Daniela, Sorrentino, Ugo

المصدر: Genes; Jan2024, Vol. 15 Issue 1, p6, 13p

مصطلحات موضوعية: FRAGILE X syndrome, PREMATURE ovarian failure, GENETIC testing

المؤلفون: Giuliano, Roberta, Maione, Anna, Vallefuoco, Angela, Sorrentino, Ugo, Zuccarello, Daniela

المصدر: Genes; Nov2023, Vol. 14 Issue 11, p2095, 15p

مصطلحات موضوعية: GENETIC testing, GENETIC disorders, TECHNOLOGICAL innovations, PREIMPLANTATION genetic diagnosis, MEDICAL technology, EMBRYO transfer

المؤلفون: Calosci, Davide, Passaglia, Lisa, Gabbiato, Ilaria, Cartisano, Francesca, Affuso, Rebecca, Sorrentino, Ugo, Zuccarello, Daniela

المصدر: Genes; Nov2023, Vol. 14 Issue 11, p2069, 16p

مصطلحات موضوعية: MEDICAL personnel, HEREDITARY cancer syndromes, LITERATURE reviews, AWARENESS, SYNDROMES

المؤلفون: Sorrentino, Ugo, Agosto, Caterina, Benini, Franca, Bertolin, Cinzia, Cassina, Matteo, Bonadies, Luca, Caroppo, Francesca, Fortina, Anna Belloni, Salviati, Leonardo

المساهمون: Sorrentino, Ugo, Agosto, Caterina, Benini, Franca, Bertolin, Cinzia, Cassina, Matteo, Bonadies, Luca, Caroppo, Francesca, Fortina, Anna Belloni, Salviati, Leonardo

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37356817; info:eu-repo/semantics/altIdentifier/wos/WOS:001019794000001; journal:CLINICAL GENETICS; https://hdl.handle.net/11577/3493310Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85162929290

الإتاحة: https://doi.org/10.1111/cge.14396Test
https://hdl.handle.net/11577/3493310Test

المؤلفون: Persico, Tiziana, Tranquillo, Maria Lucrezia, Seracchioli, Renato, Zuccarello, Daniela, Sorrentino, Ugo

المساهمون: Persico, Tiziana, Tranquillo, Maria Lucrezia, Seracchioli, Renato, Zuccarello, Daniela, Sorrentino, Ugo

مصطلحات موضوعية: FMR1, FMR1 premutation, FXPOI, IVF, POF1, fragile X syndrome, preimplantation genetic testing, premature ovarian failure

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38275588; info:eu-repo/semantics/altIdentifier/wos/WOS:001151946300001; volume:15; issue:1; firstpage:1; lastpage:13; numberofpages:13; journal:GENES; https://hdl.handle.net/11585/959502Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85183163880

الإتاحة: https://doi.org/10.3390/genes15010006Test
https://hdl.handle.net/11585/959502Test

المؤلفون: Calderan, Cristina, Sorrentino, Ugo, Persano, Luca, Trevisson, Eva, Sartori, Geppo, Salviati, Leonardo, Desbats, Maria Andrea

المصدر: European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-9, 9p