المؤلفون: van Karnebeek, Clara, D M, O’donnell-Luria, Anne, Baynam, Gareth, Baudot, Anaïs, Groza, Tudor, Jans, Judith, J M, Lassmann, Timo, Letinturier, Mary Catherine V., Montgomery, Stephen, B, Robinson, Peter, N, Sansen, Stefaan, Mehrian-Shai, Ruty, Steward, Charles, Kosaki, Kenjiro, Durao, Patricia, Sadikovic, Bekim

المساهمون: Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), European Project: 825575,H2020,EJP RD(2019)

المصدر: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://hal.science/hal-04736576 ; Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.357. ⟨10.1186/s13023-024-03361-0⟩.

مصطلحات موضوعية: Rare disease, Rare disease diagnosis, Innovative technologies, IRDiRC, Rare disease research, Genomics, Molecular diagnostics, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/grantAgreement//825575/EU/European Joint Programme on Rare Diseases/EJP RD

الاتاحة: https://hal.science/hal-04736576
https://hal.science/hal-04736576v1/document
https://hal.science/hal-04736576v1/file/s13023-024-03361-0.pdf
https://doi.org/10.1186/s13023-024-03361-0

المؤلفون: Biancolella, Michela, Colona, Vito Luigi, Luzzatto, Lucio, Watt, Jessica, Mattiuz, Giorgio, Conticello, Silvestro G., Kaminski, Naftali, Mehrian-Shai, Ruty, Ko, Albert I., Gonsalves, Gregg S., Vasiliou, Vasilis, Novelli, Giuseppe, Reichardt, Juergen K.V.

وصف الملف: application/pdf

Relation: https://doi.org/10.1186/s40246-023-00515-2; https://researchonline.jcu.edu.au/79433/; https://researchonline.jcu.edu.au/79433/7/79433.pdf; Biancolella, Michela, Colona, Vito Luigi, Luzzatto, Lucio, Watt, Jessica, Mattiuz, Giorgio, Conticello, Silvestro G., Kaminski, Naftali, Mehrian-Shai, Ruty, Ko, Albert I., Gonsalves, Gregg S., Vasiliou, Vasilis, Novelli, Giuseppe, and Reichardt, Juergen K.V. (2023) COVID-19 annual update: a narrative review. Human Genomics, 17. 68.

الاتاحة: https://researchonline.jcu.edu.au/79433/7/79433.pdf

المؤلفون: van Karnebeek, Clara D. M., O'Donnell-Luria, Anne, Baynam, Gareth, Baudot, Anaïs, Groza, Tudor, Jans, Judith J. M., Lassmann, Timo, Letinturier, Mary Catherine V., Montgomery, Stephen B., Robinson, Peter N., Sansen, Stefaan, Mehrian-Shai, Ruty, Steward, Charles, Kosaki, Kenjiro, Durao, Patricia, Sadikovic, Bekim

المصدر: Orphanet Journal of Rare Diseases; 9/27/2024, Vol. 19 Issue 1, p1-16, 16p

مصطلحات موضوعية: TECHNOLOGICAL innovations, MEDICAL genomics, CONTINUING medical education, RARE diseases, MOLECULAR diagnosis

المؤلفون: Biancolella, Michela, Colona, Vito Luigi, Mehrian-Shai, Ruty, Watt, Jessica Lee, Luzzatto, Lucio, Novelli, Giuseppe, Reichardt, Juergen K. V.

وصف الملف: application/pdf

Relation: https://doi.org/10.1186/s40246-022-00392-1; https://researchonline.jcu.edu.au/75129/; https://researchonline.jcu.edu.au/75129/1/75129.pdf; Biancolella, Michela, Colona, Vito Luigi, Mehrian-Shai, Ruty, Watt, Jessica Lee, Luzzatto, Lucio, Novelli, Giuseppe, and Reichardt, Juergen K. V. (2022) COVID-19 2022 update: transition of the pandemic to the endemic phase. Human Genomics, 16. 19.

الاتاحة: https://researchonline.jcu.edu.au/75129/1/75129.pdf

المؤلفون: Caller, Tal, Rotem, Itai, Shaihov-Teper, Olga, Lendengolts, Daria, Schary, Yeshai, Shai, Ruty, Glick-Saar, Efrat, Dominissini, Dan, Motiei, Menachem, Katzir, Idan, Popovtzer, Rachela, Nahmoud, Merav, Boomgarden, Alex, D’Souza-Schorey, Crislyn, Naftali-Shani, Nili, Leor, Jonathan

المصدر: Circulation ; volume 149, issue 22, page 1729-1748 ; ISSN 0009-7322 1524-4539

الاتاحة: http://dx.doi.org/10.1161/circulationaha.123.066911
https://www.ahajournals.org/doi/full/10.1161/CIRCULATIONAHA.123.066911

المؤلفون: Novelli, Giuseppe, Biancolella, Michela, Mehrian-Shai, Ruty, Colona, Vita Luigi, Brito, Anderson F., Grubaugh, Nathan.D, Vasiliou, Vasilis, Luzzatto, Lucio, Reichardt, Juergen K.V.

وصف الملف: application/pdf

Relation: https://doi.org/10.1186/s40246-021-00326-3; https://researchonline.jcu.edu.au/68002/; https://researchonline.jcu.edu.au/68002/1/JR%20Novelli%20et%20al.%20Hum%20Genomics%202021.pdf; Novelli, Giuseppe, Biancolella, Michela, Mehrian-Shai, Ruty, Colona, Vita Luigi, Brito, Anderson F., Grubaugh, Nathan.D, Vasiliou, Vasilis, Luzzatto, Lucio, and Reichardt, Juergen K.V. (2021) COVID-19 one year into the pandemic: from genetics and genomics to therapy, vaccination, and policy. Human Genomics, 15. 27.

الاتاحة: https://researchonline.jcu.edu.au/68002/1/JR%20Novelli%20et%20al.%20Hum%20Genomics%202021.pdf

المؤلفون: Novelli, Giuseppe, Biancolella, Michela, Mehrian-Shai, Ruty, Erickson, Caroline, Godri Pollitt, Krystal J., Vasiliou, Vasilis, Watt, Jessica, Reichardt, Juergen K.V.

وصف الملف: application/pdf

Relation: https://doi.org/10.1186/s40246-020-00298-w; https://researchonline.jcu.edu.au/67082/; https://researchonline.jcu.edu.au/67082/1/67082.pdf; Novelli, Giuseppe, Biancolella, Michela, Mehrian-Shai, Ruty, Erickson, Caroline, Godri Pollitt, Krystal J., Vasiliou, Vasilis, Watt, Jessica, and Reichardt, Juergen K.V. (2020) COVID-19 update: the first 6 months of the pandemic. Human Genomics, 14. 48.

الاتاحة: https://researchonline.jcu.edu.au/67082/1/67082.pdf

المؤلفون: Mehrian-Shai, Ruty, Novelli, Giuseppe, Vasiliou, Vasilis, Watt, Jessica, Reichardt, Juergen

وصف الملف: application/pdf

Relation: https://doi.org/10.1186/s40246-020-00273-5; https://researchonline.jcu.edu.au/62711/; https://researchonline.jcu.edu.au/62711/1/Pub%20s40246-020-00273-5.pdf; Mehrian-Shai, Ruty, Novelli, Giuseppe, Vasiliou, Vasilis, Watt, Jessica, and Reichardt, Juergen (2020) Genomics of COVID-19: molecular mechanisms going from susceptibility to severity of the disease. Human Genomics, 14. 22.

الاتاحة: https://researchonline.jcu.edu.au/62711/1/Pub%20s40246-020-00273-5.pdf

المؤلفون: Mehrian-Shai, Ruty

المصدر: Human Genomics ; volume 14, issue 1 ; ISSN 1479-7364

الاتاحة: http://dx.doi.org/10.1186/s40246-020-00300-5
http://link.springer.com/content/pdf/10.1186/s40246-020-00300-5.pdf
http://link.springer.com/article/10.1186/s40246-020-00300-5/fulltext.html

المؤلفون: Toren, Amos, Yalon, Michal, Dafni, Aner, Mehrian-Shai, Ruty

المصدر: Neuro-Oncology ; volume 22, issue Supplement_3, page iii344-iii345 ; ISSN 1522-8517 1523-5866

الاتاحة: http://dx.doi.org/10.1093/neuonc/noaa222.295
http://academic.oup.com/neuro-oncology/article-pdf/22/Supplement_3/iii344/34687187/noaa222.295.pdf

المؤلفون: Yalon, Michal, Toren, Amos, Freedman, Shany, Remke, Marc, Meharian-Shai, Ruty

المصدر: Neuro-Oncology ; volume 22, issue Supplement_3, page iii399-iii399 ; ISSN 1522-8517 1523-5866

الاتاحة: https://doi.org/10.1093/neuonc/noaa222.525
http://academic.oup.com/neuro-oncology/article-pdf/22/Supplement_3/iii399/34687303/noaa222.525.pdf

المؤلفون: Freedman, Shany, Yalon, Michal, Eyal, Eran, Kol, Nitzan, Remke, Marc, Toren, Amos, Mehrian-Shai, Ruty

المصدر: Neuro-Oncology ; volume 21, issue Supplement_2, page ii109-ii109 ; ISSN 1522-8517 1523-5866

مصطلحات موضوعية: Cancer Research, Neurology (clinical), Oncology

الاتاحة: http://dx.doi.org/10.1093/neuonc/noz036.188
http://academic.oup.com/neuro-oncology/article-pdf/21/Supplement_2/ii109/28443138/noz036.188.pdf

المؤلفون: Yalon, Michal, Toren, Amos, Jabarin, Dina, Fadida, Edna, Constantini, Shlomi, Mehrian-Shai, Ruty

المصدر: Frontiers in Oncology ; volume 9 ; ISSN 2234-943X

الاتاحة: http://dx.doi.org/10.3389/fonc.2019.00327
https://www.frontiersin.org/article/10.3389/fonc.2019.00327/full

المؤلفون: Caller, Tal, Rotem, Itai, Shaihov–Teper, Olga, Lendengolts, Daria, Schary, Yeshai, Shai, Ruty, Glick-Saar, Efrat, Dominissini, Dan, Boomgarden, Alex, D’Souza-Schorey, Crislyn, Naftali Shani, Nili, Leor, Jonathan

المصدر: Circulation Research ; volume 133, issue Suppl_1 ; ISSN 0009-7330 1524-4571

الاتاحة: http://dx.doi.org/10.1161/res.133.suppl_1.p3155

المؤلفون: Caller, Tal, Rotem, Itai, Shaihov–Teper, Olga, Lendengolts, Daria, Schary, Yeshai, Shai, Ruty, Glick-Saar, Efrat, Dominissini, Dan, Boomgarden, Alex, D'Souza-Schorey, Crislyn, Naftali Shani, Nili, Leor, Jonathan

المصدر: Circulation ; volume 148, issue Suppl_1 ; ISSN 0009-7322 1524-4539

الاتاحة: http://dx.doi.org/10.1161/circ.148.suppl_1.16391

المؤلفون: Caller, Tal, Shaihov–Teper, Olga, Schary, Yeshai, Lendengolts, Daria, Rotem, Itai, Peled, Racheli, Shai, Ruty, Amit, Uri, Glick-Saar, Efrat, Dominissini, Dan, Boomgarden, Alex, D'Souza-Schorey, Crislyn, Naftali-Shani, Nili, Leor, Jonathan

المصدر: Circulation Research ; volume 131, issue Suppl_1 ; ISSN 0009-7330 1524-4571

الاتاحة: http://dx.doi.org/10.1161/res.131.suppl_1.p3104

المؤلفون: Mehrian-Shai, Ruty, Yalon, Michal, Moshe, Itai, Barshack, Iris, Nass, Dvorah, Jacob, Jasmine, Dor, Chen, Reichardt, Juergen K.V., Constantini, Shlomi, Toren, Amos

وصف الملف: application/pdf

Relation: http://dx.doi.org/10.1186/s12864-016-2370-6; https://researchonline.jcu.edu.au/42661/; https://researchonline.jcu.edu.au/42661/1/42661%20Mehrian-Shai%20et%20al%202016.pdf; Mehrian-Shai, Ruty, Yalon, Michal, Moshe, Itai, Barshack, Iris, Nass, Dvorah, Jacob, Jasmine, Dor, Chen, Reichardt, Juergen K.V., Constantini, Shlomi, and Toren, Amos (2016) Identification of genomic aberrations in hemangioblastoma by droplet digital PCR and SNP microarray highlights novel candidate genes and pathways for pathogenesis. BMC Genomics, 17. 56. pp. 1-11.

الاتاحة: https://researchonline.jcu.edu.au/42661/1/42661%20Mehrian-Shai%20et%20al%202016.pdf

المؤلفون: Mehrian-Shai, Ruty, Reichardt, Juergen K.V

وصف الملف: application/pdf

Relation: https://doi.org/10.1186/s40246-015-0052-0; https://researchonline.jcu.edu.au/56339/; https://researchonline.jcu.edu.au/56339/1/Human%20Genomics%202015.pdf; Mehrian-Shai, Ruty, and Reichardt, Juergen K.V (2015) Genomics is changing personal healthcare and medicine: the dawn of iPH (individualized preventive healthcare). Human Genomics, 9. 29(2015).

الاتاحة: https://researchonline.jcu.edu.au/56339/1/Human%20Genomics%202015.pdf

المؤلفون: Mehrian-Shai, Ruty, Yalon, Michal, Simon, Amos, Eyal, Eran, Pismenyuk, Tatyana, Moshe, Itai, Constantini, Shlomi, Toren, Amos

مصطلحات موضوعية: Glioblastoma multiforme, Survival, Metallothionein, Zinc, p53

Relation: http://www.biomedcentral.com/1755-8794/8/68

الاتاحة: http://www.biomedcentral.com/1755-8794/8/68

المؤلفون: Duncan, Gregg, Ji, Yongsheng, Lefort, Marie-Caroline, Mehrian-Shai, Ruty, Chakrabarty, Prosanta, Jimenez, Maria Fernanda Torres

المصدر: Science ; volume 371, issue 6529, page 560-563 ; ISSN 0036-8075 1095-9203

الاتاحة: http://dx.doi.org/10.1126/science.abg5843
https://www.science.org/doi/pdf/10.1126/science.abg5843