المؤلفون: Elsea, SH, Solyom, A, Martin, K, Harmatz, P, Mitchell, J, Lampe, C, Grant, C, Selim, L, Mungan, NO, Guelbert, N, Magnusson, B, Sundberg, E, Puri, R, Kapoor, S, Arslan, N, DiRocco, M, Zaki, M, Ozen, S, Mahmoud, IG, Ehlert, K, Hahn, A, Gokcay, G, Torcoletti, M, Ferreira, CR

المصدر: Human mutation. 41(9):1469-1487

مصطلحات موضوعية: Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Klinisk medicin, Neurologi

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:144042828Test

المؤلفون: Bijarnia-Mahay, S., Batu, E. D., Ozen, S., DiRocco, M., el Din, I. Gamal, Puri, R. D., Makay, B., Kapoor, S., Harmatz, P., Mungan, N. O., Torcoletti, M., Karafilidis, J., Grant, C., Ferreira, C. R., Mitchell, J., Solyom, A., Bulut, F. D., Lampe, C., Guelbert, N., Arslan, N., Gokcay, G., Selim, L., Magnusson, B., Sundberg, E.

العلاقة: 15b8dd89-23cd-444f-99b4-7c442cf51584; https://avesis.deu.edu.tr/publication/details/15b8dd89-23cd-444f-99b4-7c442cf51584/oaiTest

الإتاحة: https://avesis.deu.edu.tr/publication/details/15b8dd89-23cd-444f-99b4-7c442cf51584/oaiTest

المؤلفون: Sundberg, E., Magnusson, B., Ferreira, C. R., Grant, C., Mitchell, J., Paul Harmatz, Mungan, N. O., Bulut, F. D., Lampe, C., Guelbert, N., Arslan, N., Makay, B., Puri, R. D., Bijarnia-Mahay, S., Selim, L., El Din, I. Gamal, Kapoor, S., Dirocco, M., Ozen, S., Batu, E. D., Gokcay, G., Torcoletti, M., Karafilidis, J., Solyom, A.

المصدر: Web of Science

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::42533d9ea5669db3831d0961f2f6254bTest
https://avesis.deu.edu.tr/publication/details/15b8dd89-23cd-444f-99b4-7c442cf51584/oaiTest

المؤلفون: Ozen, S., Makay, B., Puri, R. D., Bijarnia-Mahay, S., Selim, L., el Din, I. Gamal, Kapoor, S., DiRocco, M., Batu, E. D., Torcoletti, M., Karafilidis, J., Solyom, A., Gokcay, G., Sundberg, E., Magnusson, B., Ferreira, C. R., Grant, C., Mitchell, J., Harmatz, P., Mungan, N. O., Bulut, F. D., Lampe, C., Guelbert, N., Arslan, N.

المساهمون: Karolinska Institutet (Karolinska Institute) ,, 157528

مصطلحات موضوعية: Dahili Tıp Bilimleri, Tıbbi Genetik, Yaşam Bilimleri, Moleküler Biyoloji ve Genetik, Sitogenetik, Temel Bilimler, Yaşam Bilimleri (LIFE), GENETİK VE HAYAT, Tıp, Sağlık Bilimleri, BİYOKİMYA VE MOLEKÜLER BİYOLOJİ

العلاقة: Sundberg E., Magnusson B., Ferreira C. R. , Grant C., Mitchell J., Harmatz P., Mungan N. O. , Bulut F. D. , Lampe C., Guelbert N., et al., "Farber disease (acid ceramidase deficiency): demographic and diagnostic data from the first-ever natural history study", 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1332-1333; av_15b8dd89-23cd-444f-99b4-7c442cf51584; vv_1032021; http://hdl.handle.net/20.500.12627/19966Test; 27

الإتاحة: https://doi.org/20.500.12627/19966Test
https://hdl.handle.net/20.500.12627/19966Test

المؤلفون: Negri, L., Albani, E., DiRocco, M., Morreale, G., Novara, P., Levi-Setti, P.E.

مصطلحات موضوعية: Andrology

وصف الملف: text/html

العلاقة: http://humrep.oxfordjournals.org/cgi/content/short/18/12/2534Test; http://dx.doi.org/10.1093/humrep/deg497Test

الإتاحة: https://doi.org/10.1093/humrep/deg497Test
http://humrep.oxfordjournals.org/cgi/content/short/18/12/2534Test

المؤلفون: Bruno, C, DiRocco, M, Doria Lamba, L, Bado, M, Marino, C, Tsujino, S, Shanske, S, Stella, G, Minetti, C, van Diggelen, O.P, DiMauro, S

المصدر: Neuromuscular Disorders ; volume 9, issue 6-7, page 403-407 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s0960-8966Test(99)00040-1
https://api.elsevier.com/content/article/PII:S0960896699000401?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896699000401?httpAccept=text/plainTest

المؤلفون: Baric, I., Rojas-Caro, S., Camarena Grande, C., Coker, M., Deegan, P., DiRocco, M., Ezgu, F. S., Feillet, F., Malinova, V., Mengel, E., Murphy, E., Pastor Rosado, J., Rahman, Y., Scarpa, M., Schwab, K. O., Smolka, V., Taybert, J., Valayannopoulos, V., Yang, Y., Quinn, A.

العلاقة: Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Journal of Hepatology; https://hdl.handle.net/11454/40364Test; https://doi.org/10.1016/S0168-8278Test(15)31407-0; 62; S811

الإتاحة: https://doi.org/10.1016/S0168-8278Test(15)31407-0
https://hdl.handle.net/11454/40364Test

المؤلفون: Rojas-Caro, S., Baric, I., Camarena Grande, C., Coker, M., Deegan, P., DiRocco, M., Ezgu, F. S., Feillet, F., Malinova, V., Mengel, E., Murphy, E., Pastor Rosado, J., Rahman, Y., Scarpa, M., Schwab, K. O., Smolka, V., Taybert, J., Valayannopoulos, V., Yang, Y., Quinn, A.

العلاقة: Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Journal of Hepatology; https://hdl.handle.net/11454/50628Test; https://doi.org/10.1016/S0168-8278Test(15)31407-0; 62; S811

الإتاحة: https://doi.org/10.1016/S0168-8278Test(15)31407-0
https://hdl.handle.net/11454/50628Test

المؤلفون: Camarena Grande, C., Taybert, J., Valayannopoulos, V., Yang, Y., Quinn, A., Pastor Rosado, J., Scarpa, M., Schwab, K. O., Mengel, E., Smolka, V., Malinova, V., Feillet, F., DiRocco, M., Coker, M., Baric, I., Rojas-Caro, S., Ezgu, FATİH SÜHEYL, Rahman, Y., Deegan, P., Murphy, E.

العلاقة: fcb1fdb0-5c3b-4fe3-b223-ef9170921bbf; https://avesis.gazi.edu.tr/publication/details/fcb1fdb0-5c3b-4fe3-b223-ef9170921bbf/oaiTest

الإتاحة: https://doi.org/10.1016/s0168-8278Test(15)31407-0
https://avesis.gazi.edu.tr/publication/details/fcb1fdb0-5c3b-4fe3-b223-ef9170921bbf/oaiTest

المؤلفون: Solyom, A., Ehlert, K., Hügle, B., Magnusson, B., Grigelioniene, G., Guelbert, N., Gardner-Medwin, J., Tanpaiboon, P., Jung, L., Puri, R., DiRocco, M., Mitchell, J., Beck, M., Simonaro, C., Schuchman, E.

المصدر: Annals of the Rheumatic Diseases ; volume 74, issue Suppl 2, page 838.3-839 ; ISSN 0003-4967 1468-2060

مصطلحات موضوعية: General Biochemistry, Genetics and Molecular Biology, Immunology, Immunology and Allergy, Rheumatology

الإتاحة: https://doi.org/10.1136/annrheumdis-2015-eular.6024Test