نتائج البحث - "Miccinilli, Elide"

1

دورية أكاديمية

Stemness underpinning all steps of human colorectal cancer defines the core of effective therapeutic strategies

المساهمون: Ministero della Salute, Associazione Italiana per la Ricerca sul Cancro

المصدر: EBioMedicine ; volume 44, page 346-360 ; ISSN 2352-3964

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, General Medicine

الإتاحة: https://doi.org/10.1016/j.ebiom.2019.04.049Test
https://api.elsevier.com/content/article/PII:S2352396419302889?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2352396419302889?httpAccept=text/plainTest

View record in BASE

2

دورية أكاديمية

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

المؤلفون: Roosing, Susanne, Hofree, Matan, Kim, Sehyun, Scott, Eric, Copeland, Brett, Romani, Marta, Silhavy, Jennifer L, Rosti, Rasim O, Schroth, Jana, Mazza, Tommaso, Miccinilli, Elide, Zaki, Maha S, Swoboda, Kathryn J, Milisa-Drautz, Joanne, Dobyns, William B, Mikati, Mohamed A, İncecik, Faruk, Azam, Matloob, Borgatti, Renato, Romaniello, Romina, Boustany, Rose-Mary, Clericuzio, Carol L, D'Arrigo, Stefano, Strømme, Petter, Boltshauser, Eugen, Stanzial, Franco, Mirabelli-Badenier, Marisol, Moroni, Isabella, Bertini, Enrico, Emma, Francesco, Steinlin, Maja, Hildebrandt, Friedhelm, Johnson, Colin A, Freilinger, Michael, Vaux, Keith K, Gabriel, Stacey B, Aza-Blanc, Pedro, Heynen-Genel, Susanne, Ideker, Trey, Dynlacht, Brian D, Lee, Ji Eun, Valente, Enza Maria, Kim, Joon, Gleeson, Joseph G

المصدر: Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L; Rosti, Rasim O; Schroth, Jana; Mazza, Tommaso; Miccinilli, Elide; Zaki, Maha S; Swoboda, Kathryn J; Milisa-Drautz, Joanne; Dobyns, William B; Mikati, Mohamed A; İncecik, Faruk; Azam, Matloob; Borgatti, Renato; Romaniello, Romina; Boustany, Rose-Mary; Clericuzio, Carol L; D'Arrigo, Stefano; Strømme, Petter; Boltshauser, Eugen; Stanzial, Franco; Mirabelli-Badenier, Marisol; Moroni, Isabella; Bertini, Enrico; Emma, Francesco; Steinlin, Maja; Hildebrandt, Friedhelm; Johnson, Colin A; Freilinger, Michael; Vaux, Keith K; Gabriel, Stacey B; Aza-Blanc, Pedro; Heynen-Genel, Susanne; Ideker, Trey; Dynlacht, Brian D; Lee, Ji Eun; Valente, Enza Maria; Kim, Joon; ....

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/121020/1/RoosingS,%202015.pdfTest; info:pmid/26026149; urn:issn:2050-084X

الإتاحة: https://doi.org/10.5167/uzh-12102010.7554/eLife.06602Test
https://www.zora.uzh.ch/id/eprint/121020Test/
https://www.zora.uzh.ch/id/eprint/121020/1/RoosingS,%202015.pdfTest

View record in BASE

النص الكامل

3

دورية أكاديمية

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

المصدر: Romani, Marta; Mancini, Francesca; Micalizzi, Alessia; Poretti, Andrea; Miccinilli, Elide; Accorsi, Patrizia; Avola, Emanuela; Bertini, Enrico; Borgatti, Renato; Romaniello, Romina; Ceylaner, Serdar; Coppola, Giangennaro; D'Arrigo, Stefano; Giordano, Lucio; Janecke, Andreas R; Lituania, Mario; Ludwig, Kathrin; Martorell, Loreto; Mazza, Tommaso; Odent, Sylvie; . (2015). Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? Human genetics, 134(1), pp. 123-126. Springer 10.1007/s00439-014-1508-3

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/79375Test/

الإتاحة: https://doi.org/10.1007/s00439-014-1508-3Test
https://boris.unibe.ch/79375/1/art%253A10.1007%252Fs00439-014-1508-3.pdfTest
https://boris.unibe.ch/79375Test/

View record in BASE

4

دورية أكاديمية

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

المصدر: The American Journal of Human Genetics ; volume 97, issue 1, page 177-185 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2015.05.011Test
https://api.elsevier.com/content/article/PII:S0002929715001974?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0002929715001974?httpAccept=text/xmlTest

View record in BASE

5

دورية أكاديمية

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

المصدر: Human Genetics ; volume 134, issue 1, page 123-126 ; ISSN 0340-6717 1432-1203

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s00439-014-1508-3Test

View record in BASE

6

دورية أكاديمية

Insights from Molecular Characterization of Adult Patients of Families with Multigenerational Diabetes Mellitus

المؤلفون: Pezzilli, Serena, Ludovico, Ornella, Biagini, Tommaso, Mercuri, Luana, Alberico, Federica, Lauricella, Eleonora, Dallali, Hamza, Capocefalo, Daniele, Carella, Massimo, Miccinilli, Elide, Piscitelli, Pamela, Scarale, Maria Giovanna, Mazza, Tommaso, Trischitta, Vincenzo, Prudente, Sabrina

المساهمون: Pezzilli, Serena, Ludovico, Ornella, Biagini, Tommaso, Mercuri, Luana, Alberico, Federica, Lauricella, Eleonora, Dallali, Hamza, Capocefalo, Daniele, Carella, Massimo, Miccinilli, Elide, Piscitelli, Pamela, Scarale, Maria Giovanna, Mazza, Tommaso, Trischitta, Vincenzo, Prudente, Sabrina

مصطلحات موضوعية: monogenic diabetes, NGS, MODY

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28993341; info:eu-repo/semantics/altIdentifier/wos/WOS:000418439900015; volume:67; issue:1; firstpage:137; lastpage:145; numberofpages:9; journal:DIABETES; http://hdl.handle.net/11573/1021276Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85038919741

الإتاحة: https://doi.org/10.2337/db17-0867Test
http://hdl.handle.net/11573/1021276Test

View record in BASE