المؤلفون: Cayami, Ferdy K., Claeys, Lauria, de Ruiter, Ruben, Smilde, Bernard J., Wisse, Lisanne, Bogunovic, Natalija, Riesebos, Elise, Eken, Lyra, Kooi, Irsan, Sistermans, Erik A., Bravenboer, Nathalie, Pals, Gerard, Faradz, Sultana M. H., Sie, Daoud, Eekhoff, E. Marelise W., Micha, Dimitra

المصدر: Cayami , F K , Claeys , L , de Ruiter , R , Smilde , B J , Wisse , L , Bogunovic , N , Riesebos , E , Eken , L , Kooi , I , Sistermans , E A , Bravenboer , N , Pals , G , Faradz , S M H , Sie , D , Eekhoff , E M W & Micha , D 2022 , ' Osteogenic transdifferentiation of primary human fibroblasts to osteoblast-like cells with human platelet lysate ' , Scientific Reports , vol. 12 , no. 1 , 14686 ....

العلاقة: https://research.vumc.nl/en/publications/f7271160-ea47-422a-b122-b7763a2b9002Test

الإتاحة: https://doi.org/10.1038/s41598-022-18512-1Test
https://research.vumc.nl/en/publications/f7271160-ea47-422a-b122-b7763a2b9002Test
http://www.scopus.com/inward/record.url?scp=85136843877&partnerID=8YFLogxKTest

المؤلفون: Anam, Moh Syarofil, Mahmudah, Mahmudah, Cayami, Ferdy K, Mexitalia, Maria, Sidhartani, Magdalena, Subagio, Hertanto Wahyu, Utari, Agustini

المصدر: Journal of Biomedicine and Translational Research; Vol 8, No 3 (2022): December 2022; 125-136 ; 2503-2178 ; 10.14710/jbtr.v8i3

مصطلحات موضوعية: Thyroid hormone, TSH, FT4, T3, FDC, pediatric tuberculosis

وصف الملف: application/pdf

العلاقة: https://ejournal2.undip.ac.id/index.php/jbtr/article/view/15664/8429Test; https://ejournal2.undip.ac.id/index.php/jbtr/article/view/15664Test

الإتاحة: https://doi.org/10.14710/jbtr.v8i3.15664Test
https://doi.org/10.14710/jbtr.v8i3Test
https://ejournal2.undip.ac.id/index.php/jbtr/article/view/15664Test

المؤلفون: Pelletier, Félixe, Perrier, Stefanie, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole, Guerrero, Kether, Rampakakis, Emmanouil, van Spaendonk, Rosalina M.L., Naidu, Sakkubai, Pohl, Daniela, Gibson, William T., Demos, Michelle, Goizet, Cyril, Tejera-Martin, Ingrid, Potic, Ana, Fogel, Brent L., Brais, Bernard, Sylvain, Michel, Sébire, Guillaume, Lourenço, Charles Marques, Bonkowsky, Joshua L., Catsman-Berrevoets, Coriene, Pinto, Pedro S., Tirupathi, Sandya, Strømme, Petter, de Grauw, Ton, Gieruszczak-Bialek, Dorota, Krägeloh-Mann, Ingeborg, Mierzewska, Hanna, Philippi, Heike, Rankin, Julia, Atik, Tahir, Banwell, Brenda, Benko, William S., Blaschek, Astrid, Bley, Annette, Boltshauser, Eugen, Bratkovic, Drago, Brozova, Klara, Cimas, Icíar, Clough, Christopher, Corenblum, Bernard, Dinopoulos, Argirios, Dolan, Gail, Faletra, Flavio, Fernandez, Raymond, Fletcher, Janice, Garcia Garcia, Maria Eugenia, Gasparini, Paolo, Gburek-Augustat, Janina, Gonzalez Moron, Dolores, Hamati, Aline, Harting, Inga, Hertzberg, Christoph, Hill, Alan, Hobson, Grace M., Innes, A. Micheil, Kauffman, Marcelo, Kirwin, Susan M., Kluger, Gerhard, Kolditz, Petra, Kotzaeridou, Urania, La Piana, Roberta, Liston, Eriskay, McClintock, William, McEntagart, Meriel, McKenzie, Fiona, Melançon, Serge, Misbahuddin, Anjum, Suri, Mohnish, Monton, Fernando I., Moutton, Sebastien, Murphy, Raymond P.J., Nickel, Miriam, Onay, Hüseyin, Orcesi, Simona, Özkınay, Ferda, Patzer, Steffi, Pedro, Helio, Pekic, Sandra, Pineda Marfa, Mercedes, Pizzino, Amy, Plecko, Barbara, Poll-The, Bwee Tien, Popovic, Vera, Rating, Dietz, Rioux, Marie France, Rodriguez Espinosa, Norberto, Ronan, Anne, Ostergaard, John R., Rossignol, Elsa, Sanchez-Carpintero, Rocio, Schossig, Anna, Senbil, Nesrin, Sønderberg Roos, Laura K., Stevens, Cathy A., Synofzik, Matthis, Sztriha, László, Tibussek, Daniel, Timmann, Dagmar, Tonduti, Davide, van de Warrenburg, Bart P., Vázquez-López, Maria, Venkateswaran, Sunita, Wasling, Pontus, Wassmer, Evangeline, Webster, Richard I., Wiegand, Gert, Yoon, Grace, Rotteveel, Joost, Schiffmann, Raphael, van der Knaap, Marjo S., Vanderver, Adeline, Martos-Moreno, Gabriel, Polychronakos, Constantin, Wolf, Nicole I., Bernard, Geneviève

المصدر: Pelletier , F , Perrier , S , Cayami , F K , Mirchi , A , Saikali , S , Tran , L T , Ulrick , N , Guerrero , K , Rampakakis , E , van Spaendonk , R M L , Naidu , S , Pohl , D , Gibson , W T , Demos , M , Goizet , C , Tejera-Martin , I , Potic , A , Fogel , B L , Brais , B , Sylvain , M , Sébire , G , Lourenço , C M , Bonkowsky , J ....

العلاقة: https://research.vumc.nl/en/publications/4ed1cf4c-2852-4385-8e8b-e7bc6af4a12aTest

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
https://research.vumc.nl/en/publications/4ed1cf4c-2852-4385-8e8b-e7bc6af4a12aTest
http://www.scopus.com/inward/record.url?scp=85097520880&partnerID=8YFLogxKTest

المؤلفون: Perrier, Stefanie, Pelletier, Felixe, Cayami, Ferdy K., Mirchi, Amytice, Saikali, Stephan, Tran, Luan T., Ulrick, Nicole

مصطلحات موضوعية: 4H leukodystrophy, Recessive Mutations, Hormone Deficiency, Subunit, Classification, Diagnosis, POLR3-related leukodystrophy, hypomyelination, hypogonadotropic hypogonadism, Diffuse Hypomyelination, Pattern-Recognition

العلاقة: Journal Of Clinical Endocrinology & Metabolism; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/77857Test; https://doi.org/10.1210/clinem/dgaa700Test; Suri, Mohnish/0000-0001-9037-701X; GOIZET, Cyril/0000-0002-1913-889X; van der Knaap, Marjo/0000-0001-8912-0954; Martos-Moreno, Gabriel Angel/0000-0001-5524-2646; Tonduti, Davide/0000-0001-9371-7454; Vervenne, Resie/0000-0002-6077-8725; Cayami, Ferdy/0000-0001-7284-7487; 106; E660; E674

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
https://hdl.handle.net/11454/77857Test

المؤلفون: Gauquelin, Laurence, Cayami, Ferdy K, Sztriha, László, Yoon, Grace, Tran, Luan T, Guerrero, Kether, Hocke, François, van Spaendonk, Rosalina M L, Fung, Eva L, D'Arrigo, Stefano, Vasco, Gessica, Thiffault, Isabelle, Niyazov, Dmitriy M, Person, Richard, Lewis, Kara Stuart, Wassmer, Evangeline, Prescott, Trine, Fallon, Penny, McEntagart, Meriel, Rankin, Julia, Webster, Richard, Philippi, Heike, van de Warrenburg, Bart, Timmann, Dagmar, Dixit, Abhijit, Searle, Claire, Thakur, Nivedita, Kruer, Michael C, Sharma, Suvasini, Vanderver, Adeline, Tonduti, Davide, van der Knaap, Marjo S, Bertini, Enrico, Goizet, Cyril, Fribourg, Sébastien, Wolf, Nicole I, Bernard, Geneviève

المساهمون: L. Gauquelin, F.K. Cayami, L. Sztriha, G. Yoon, L.T. Tran, K. Guerrero, F. Hocke, R.M.L. van Spaendonk, E.L. Fung, S. D'Arrigo, G. Vasco, I. Thiffault, D.M. Niyazov, R. Person, K.S. Lewi, E. Wassmer, T. Prescott, P. Fallon, M. Mcentagart, J. Rankin, R. Webster, H. Philippi, B. van de Warrenburg, D. Timmann, A. Dixit, C. Searle, N. Thakur, M.C. Kruer, S. Sharma, A. Vanderver, D. Tonduti, M.S. van der Knaap, E. Bertini, C. Goizet, S. Fribourg, N.I. Wolf, G. Bernard

مصطلحات موضوعية: Settore MED/39 - Neuropsichiatria Infantile

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32042905; info:eu-repo/semantics/altIdentifier/wos/WOS:000512893600007; volume:5; issue:6; firstpage:1; lastpage:12; numberofpages:12; journal:NEUROLOGY. GENETICS; https://hdl.handle.net/2434/938858Test

الإتاحة: https://doi.org/10.1212/NXG.0000000000000369Test
https://hdl.handle.net/2434/938858Test

المؤلفون: Cayami, Ferdy K., Maugeri, Alessandra, Treurniet, Sanne, Setijowati, Eva D., Teunissen, Bernd P., Eekhoff, Elisabeth M.W., Pals, Gerard, Faradz, Sultana M., Micha, Dimitra

المساهمون: Excellent Scholarship, Ministry of Research and Higher Education, Republic of Indonesia, High Reputation of International Publication (RPIBT) Grant of Diponegoro University., Directorate of Higher Education Overseas Scholarship (DIKTI) Ministry of Research and Higher Education, Republic of Indonesia

المصدر: Molecular Genetics & Genomic Medicine ; volume 7, issue 8 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.823Test

المؤلفون: Miyake, Noriko, Wolf, Nicole I., Cayami, Ferdy K., Crawford, Joanna, Bley, Annette, Bulas, Dorothy, Conant, Alex, Bent, Stephen J., Gripp, Karen W., Hahn, Andreas, Humphray, Sean, Kimura-Ohba, Shihoko, Kingsbury, Zoya, Lajoie, Bryan R., Lal, Dennis, Micha, Dimitra, Pizzino, Amy, Sinke, Richard J., Sival, Deborah, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Ulrick, Nicole, Taft, Ryan J., Ogata, Tsutomu, Ozono, Keiichi, Matsumoto, Naomichi, Neubauer, Bernd A., Simons, Cas, Vanderver, Adeline

المصدر: Miyake , N , Wolf , N I , Cayami , F K , Crawford , J , Bley , A , Bulas , D , Conant , A , Bent , S J , Gripp , K W , Hahn , A , Humphray , S , Kimura-Ohba , S , Kingsbury , Z , Lajoie , B R , Lal , D , Micha , D , Pizzino , A , Sinke , R J , Sival , D , Stolte-Dijkstra , I , Superti-Furga , A , Ulrick , N , Taft , R J , ....

مصطلحات موضوعية: Hypomyelination, Spondylometaphyseal dysplasia, Whole exome sequencing (WES), AIFM1 gene, Mitochondrial leukodystrophy, Myelin, APOPTOSIS-INDUCING FACTOR, MENTAL-RETARDATION, NEUROPATHY, LEUKODYSTROPHIES, CHONDRODYSPLASIA, MINERALIZATION, DISORDERS, PHENOTYPE, VARIANTS, SPECTRUM

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/efc12237-57f5-4508-93d4-52edfd7619c5Test

الإتاحة: https://doi.org/10.1007/s10048-017-0520-xTest
https://hdl.handle.net/11370/efc12237-57f5-4508-93d4-52edfd7619c5Test
https://research.rug.nl/en/publications/efc12237-57f5-4508-93d4-52edfd7619c5Test
https://pure.rug.nl/ws/files/51310246/00395230.pdfTest

المؤلفون: La Piana, Roberta, Cayami, Ferdy K., Tran, Luan T., Guerrero, Kether, van Spaendonk, Rosalina, Ounap, Katrin, Pajusalu, Sander, Haack, Tobias, Wassmer, Evangeline, Timmann, Dagmar, Mierzewska, Hanna, Poll-The, Bwee T., Patel, Chirag, Cox, Helen, Onay, Huseyin, Özkınay, Ferda, Vanderver, Adeline, van der Knaap, Marjo S., Wolf, Nicole I., Bernard, Genevieve, Atik, Tahir

العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Neurology; https://hdl.handle.net/11454/52860Test; https://doi.org/10.1212/WNL.0000000000002612Test; 86; 17; 1622; 1626

الإتاحة: https://doi.org/10.1212/WNL.0000000000002612Test
https://hdl.handle.net/11454/52860Test

المؤلفون: Lim, Grace X.Y., Loo, Yu Ling, Mundhofir, Farmaditya E.P., Cayami, Ferdy K., Faradz, Sultana M.H., Rajan-Babu, Indhu-Shree, Chong, Samuel S., Koh, Yvonne Y., Guan, Ming

المصدر: The Journal of Molecular Diagnostics ; volume 17, issue 3, page 302-314 ; ISSN 1525-1578

مصطلحات موضوعية: Molecular Medicine, Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1016/j.jmoldx.2014.12.005Test
https://api.elsevier.com/content/article/PII:S1525157815000434?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1525157815000434?httpAccept=text/plainTest

المؤلفون: Cayami, Ferdy K., Bugiani, Marianna, Pouwels, Petra J.W., Bernard, Geneviève, van der Knaap, Marjo S., Wolf, Nicole I.

المصدر: Cayami , F K , Bugiani , M , Pouwels , P J W , Bernard , G , van der Knaap , M S & Wolf , N I 2018 , ' 4H Leukodystrophy : Lessons from 3T Imaging ' , Neuropediatrics , vol. 49 , no. 2 , pp. 112-117 . https://doi.org/10.1055/s-0037-1608780Test

العلاقة: https://research.vumc.nl/en/publications/06372577-a519-4388-b210-8401bd8b0db1Test

الإتاحة: https://doi.org/10.1055/s-0037-1608780Test
https://research.vumc.nl/en/publications/06372577-a519-4388-b210-8401bd8b0db1Test
http://www.scopus.com/inward/record.url?scp=85035332203&partnerID=8YFLogxKTest