المؤلفون: Oudejans, Ellen, Rooijen-van Leeuwen, Gemma van, Takanohashi, Asako, van der Sluis, Sophie, Abbink, Truus E. M., Vanderver, Adeline L., van der Knaap, Marjo S.

المصدر: Oudejans , E , Rooijen-van Leeuwen , G V , Takanohashi , A , van der Sluis , S , Abbink , T E M , Vanderver , A L & van der Knaap , M S 2023 , ' ISR mRNAs as potential blood biomarkers in patients with vanishing white matter ' , Brain Disorders , vol. 12 , 100101 . https://doi.org/10.1016/j.dscb.2023.100101Test

العلاقة: https://research.vumc.nl/en/publications/4dccafe7-d198-40a7-b824-9dc24bb87635Test

الإتاحة: https://doi.org/10.1016/j.dscb.2023.100101Test
https://research.vumc.nl/en/publications/4dccafe7-d198-40a7-b824-9dc24bb87635Test
http://www.scopus.com/inward/record.url?scp=85177653968&partnerID=8YFLogxKTest

المؤلفون: Rice G. I., Park S., Gavazzi F., Adang L. A., Ayuk L. A., Van Eyck L., Seabra L., Barrea C., Battini R., Belot A., Berg S., Billette de Villemeur T., Bley A. E., Blumkin L., Boespflug-Tanguy O., Briggs T. A., Brimble E., Dale R. C., Darin N., Debray F. -G., De Giorgis V., Denecke J., Doummar D., Drake af Hagelsrum G., Eleftheriou D., Estienne M., Fazzi E., Feillet F., Galli J., Hartog N., Harvengt J., Heron B., Heron D., Kelly D. A., Lev D., Levrat V., Livingston J. H., Marti I., Mignot C., Mochel F., Nougues M. -C., Oppermann I., Perez-Duenas B., Popp B., Rodero M. P., Rodriguez D., Saletti V., Sharpe C., Tonduti D., Vadlamani G., Van Haren K., Tomas Vila M., Vogt J., Wassmer E., Wiedemann A., Wilson C. J., Zerem A., Zweier C., Zuberi S. M., Orcesi S., Vanderver A. L., Hur S., Crow Y. J.

المساهمون: Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., Billette de Villemeur, T., Bley, A. E., Blumkin, L., Boespflug-Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, N., Debray, F. -G., De Giorgis, V., Denecke, J., Doummar, D., Drake af Hagelsrum, G., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M. -C., Oppermann, I., Perez-Duenas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Tomas Vila, M., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S., Crow, Y. J.

مصطلحات موضوعية: Aicardi–Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31898846; info:eu-repo/semantics/altIdentifier/wos/WOS:000506940000001; volume:41; issue:4; firstpage:837; lastpage:849; numberofpages:13; journal:HUMAN MUTATION; http://hdl.handle.net/11568/1071295Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85078038174

الإتاحة: https://doi.org/10.1002/humu.23975Test
http://hdl.handle.net/11568/1071295Test

المؤلفون: Wong, Kristen N., Botto, Lorenzo D., Miao He, Baker II, Peter R., Vanderver, Adeline L., Bonkowsky, Joshua L.

المصدر: Neurology: Genetics; Dec2023, Vol. 9 Issue 6, p1-5, 5p

المؤلفون: Mendes, Marisa I., Green, Lydia M.C., Bertini, Enrico, Tonduti, Davide, Aiello, Chiara, Smith, Desiree, Salsano, Ettore, Beerepoot, Shanice, Hertecant, Jozef, von Spiczak, Sarah, Livingston, John H., Emrick, Lisa, Fraser, Jamie, Russell, Laura, Bernard, Genevieve, Magri, Stefania, Di Bella, Daniela, Taroni, Franco, Koenig, Mary K., Moroni, Isabella, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rhee, Jullie, Mendelsohn, Bryce A., Helbig, Ingo, Helbig, Katherine, Muhle, Hiltrud, Ismayl, Omar, Vanderver, Adeline L., Salomons, Gajja S., van der Knaap, Marjo S., Wolf, Nicole I.

المصدر: Mendes , M I , Green , L M C , Bertini , E , Tonduti , D , Aiello , C , Smith , D , Salsano , E , Beerepoot , S , Hertecant , J , von Spiczak , S , Livingston , J H , Emrick , L , Fraser , J , Russell , L , Bernard , G , Magri , S , Di Bella , D , Taroni , F , Koenig , M K , Moroni , I , Cappuccio , G , Brunetti-Pierri , N , Rhee , J , ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

العلاقة: https://research.vu.nl/en/publications/dbfdd5d8-4938-4652-8b34-28964f565c58Test

الإتاحة: https://doi.org/10.1002/acn3.50960Test
https://research.vu.nl/en/publications/dbfdd5d8-4938-4652-8b34-28964f565c58Test
https://hdl.handle.net/1871.1/dbfdd5d8-4938-4652-8b34-28964f565c58Test
http://www.scopus.com/inward/record.url?scp=85076356830&partnerID=8YFLogxKTest
http://www.scopus.com/inward/citedby.url?scp=85076356830&partnerID=8YFLogxKTest

المؤلفون: Rice, Gillian I., Park, Sehoon, Gavazzi, Francesco, Adang, Laura A., Ayuk, Loveline A., Eyck, Lien Van, Seabra, Luis, Barrea, Christophe, Battini, Roberta, Belot, Alexandre, Berg, Stefan, de Villemeur, Thierry Billette, Bley, Annette E., Blumkin, Lubov, Boespflug-Tanguy, Odile, Briggs, Tracy A., Brimble, Elise, Dale, Russell C., Darin, Niklas, Debray, François-Guillaume, De Giorgis, Valentina, Denecke, Jonas, Doummar, Diane, Hagelsrum, Gunilla Drake af, Eleftheriou, Despina, Estienne, Margherita, Fazzi, Elisa, Feillet, François, Galli, Jessica, Hartog, Nicholas, Harvengt, Julie, Heron, Bénédicte, Heron, Delphine, Kelly, Diedre A., Lev, Dorit, Levrat, Virginie, Livingston, John H., Marti, Itxaso, Mignot, Cyril, Mochel, Fanny, Nougues, Marie-Christine, Oppermann, Ilena, Pérez-Dueñas, Belén, Popp, Bernt, Rodero, Mathieu P., Rodriguez, Diana, Saletti, Veronica, Sharpe, Cia, Tonduti, Davide, Vadlamani, Gayatri, Haren, Keith Van, Vila, Miguel Tomas, Vogt, Julie, Wassmer, Evangeline, Wiedemann, Arnaud, Wilson, Callum J., Zerem, Ayelet, Zweier, Christiane, Zuberi, Sameer M., Orcesi, Simona, Vanderver, Adeline L., Hur, Sun, Crow, Yanick J., Universitat Autònoma de Barcelona

مصطلحات موضوعية: Aicardi-Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy

وصف الملف: application/pdf

العلاقة: Human mutation; Vol. 41 (january 2020), p. 837-849; https://ddd.uab.cat/record/238258Test; urn:10.1002/humu.23975; urn:oai:ddd.uab.cat:238258; urn:pmcid:PMC7457149; urn:pmc-uid:7457149; urn:pmid:31898846; urn:articleid:10981004v41p837; urn:oai:pubmedcentral.nih.gov:7457149

الإتاحة: https://ddd.uab.cat/record/238258Test

المؤلفون: Ahmed, Fahad, Do, Ngan, Vanderver, Adeline L., Treat, James R.

المساهمون: National Institute of Neurological Disorders and Stroke

المصدر: Pediatric Dermatology ; volume 41, issue 1, page 156-157 ; ISSN 0736-8046 1525-1470

الإتاحة: https://doi.org/10.1111/pde.15437Test

المؤلفون: Wong, Kristen N., Botto, Lorenzo D., He, Miao, Baker, Peter R., Vanderver, Adeline L., Bonkowsky, Joshua L.

المصدر: Neurology Genetics ; volume 9, issue 6 ; ISSN 2376-7839

الإتاحة: https://doi.org/10.1212/nxg.0000000000200101Test

المؤلفون: Mendes, Marisa I., Green, Lydia M. C., Bertini, Enrico, Tonduti, Davide, Aiello, Chiara, Smith, Desiree, Salsano, Ettore, Beerepoot, Shanice, Hertecant, Jozef, von Spiczak, Sarah, Livingston, John H., Emrick, Lisa, Fraser, Jamie, Russell, Laura, Bernard, Genevieve, Magri, Stefania, Di Bella, Daniela, Taroni, Franco, Koenig, Mary K., Moroni, Isabella, Cappuccio, Gerarda, Brunetti‐Pierri, Nicola, Rhee, Jullie, Mendelsohn, Bryce A., Helbig, Ingo, Helbig, Katherine, Muhle, Hiltrud, Ismayl, Omar, Vanderver, Adeline L., Salomons, Gajja S., van der Knaap, Marjo S., Wolf, Nicole I.

المساهمون: Canadian Institutes of Health Research

المصدر: Annals of Clinical and Translational Neurology ; volume 7, issue 1, page 83-93 ; ISSN 2328-9503 2328-9503

الإتاحة: https://doi.org/10.1002/acn3.50960Test

المؤلفون: Adang, Laura A., Frank, David B., Gilani, Ahmed, Takanohashi, Asako, Ulrick, Nicole, Collins, Abigail, Cross, Zachary, Galambos, Csaba, Helman, Guy, Kanaan, Usama, Keller, Stephanie, Simon, Dawn, Sherbini, Omar, Hanna, Brian D., Vanderver, Adeline L.

المساهمون: National Center for Advancing Translational Sciences of the National Institutes of Health, CURE grant and the Lysosomal Disease Network, Jayden DeLuca Foundation, Delman Fund for Pediatric Neurology Education, Kamens endowed chair

المصدر: Molecular Genetics and Metabolism ; volume 125, issue 4, page 351-358 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/j.ymgme.2018.09.004Test
https://api.elsevier.com/content/article/PII:S1096719218304025?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719218304025?httpAccept=text/plainTest

المؤلفون: Hong, Xinying, Kumar, Arun Babu, Daiker, Jessica, Yi, Fan, Sadilek, Martin, De Mattia, Fabiola, Fumagalli, Francesca, Calbi, Valeria, Damiano, Roberta, Della Bona, Maria, la Marca, Giancarlo, Vanderver, Adeline L, Waldman, Amy T, Adang, Laura, Sherbini, Omar, Woidill, Sarah, Suhr, Teryn, Kurtzberg, Joanne, Beltran-Quintero, Maria L, Escolar, Maria, Aiuti, Alessandro, Finglas, Alan, Olsen, Amber, Gelb, Michael H

مصطلحات موضوعية: Leukocytes, Humans, Leukodystrophy, Metachromatic, Cerebroside-Sulfatase, Sulfoglycosphingolipids, Chromatography, Liquid, Molecular Structure, Tandem Mass Spectrometry, Multiple Sulfatase Deficiency Disease, Dried Blood Spot Testing

وصف الملف: application/pdf

العلاقة: Analytical chemistry; https://hdl.handle.net/10161/24564Test

الإتاحة: https://hdl.handle.net/10161/24564Test