المؤلفون: Eisenstat, David D, Pollack, Ian F, Demers, Alain, Sapp, Mark V, Lambert, Pascal, Weisfeld-Adams, James D, Burger, Peter C, Gilles, Floyd, Davis, Richard L, Packer, Roger, Boyett, James M, Finlay, Jonathan L

المصدر: Journal of Neuro-Oncology. 121(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Brain Cancer, Neurosciences, Cancer, Brain Disorders, Adolescent, Brain Neoplasms, Child, Child, Preschool, Combined Modality Therapy, Disease-Free Survival, Female, Glioma, Humans, Infant, Infant, Newborn, Kaplan-Meier Estimate, Male, Neoplasm Grading, Prognosis, Childhood malignant gliomas, Anaplastic astrocytoma, Glioblastoma multiforme, Chemotherapy, Midline tumors, Thalamus, Hypothalamus, Basal ganglia, Oncology & Carcinogenesis, Oncology and carcinogenesis

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5f6565bbTest

المؤلفون: Lerner, Shaul, Eilam, Raya, Adler, Lital, Baruteau, Julien, Kreiser, Topaz, Tsoory, Michael, Brandis, Alexander, Mehlman, Tevie, Ryten, Mina, Botia, Juan A., Ruiz, Sonia Garcia, Garcia, Alejandro Cisterna, Dionisi-Vici, Carlo, Ranucci, Giusy, Spada, Marco, Mazkereth, Ram, McCarter, Robert, Izem, Rima, Balmat, Thomas J., Richesson, Rachel, Baumgartner, Matthias R., Bedoyan, Jirair K., Berry, Gerard, Berry, Susan A., Burgard, Peter, Burrage, Lindsay, Coughlin, Curtis, Diaz, George A., Enns, Gregory, Gallagher, Renata C., Gropman, Andrea, Harding, Cary O., Hoffmann, Georg, Le Mons, Cynthia, McCandless, Shawn E., Merritt, J. Lawrence, Nagamani, Sandesh C. S., Schulze, Andreas, Seminara, Jennifer, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, Weisfeld-Adams, James D., Wong, Derek, Yudkoff, Marc, Gazit, Ehud, Erez, Ayelet

المساهمون: European Research Council

المصدر: Human Genetics ; volume 140, issue 10, page 1471-1485 ; ISSN 0340-6717 1432-1203

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1007/s00439-021-02345-5Test

المؤلفون: Nikkel, Sarah M, Dauber, Andrew, de Munnik, Sonja, Connolly, Meghan, Hood, Rebecca L, Caluseriu, Oana, Hurst, Jane, Kini, Usha, Nowaczyk, Malgorzata J M, Afenjar, Alexandra, Albrecht, Beate, Allanson, Judith E, Balestri, Paolo, Ben-Omran, Tawfeg, Brancati, Francesco, Cordeiro, Isabel, da Cunha, Bruna Santos, Delaney, Louisa A, Destrée, Anne, Fitzpatrick, David, Forzano, Francesca, Ghali, Neeti, Gillies, Greta, Harwood, Katerina, Hendriks, Yvonne M C, Héron, Delphine, Hoischen, Alexander, Honey, Engela Magdalena, Hoefsloot, Lies H, Ibrahim, Jennifer, Jacob, Claire M, Kant, Sarina G, Kim, Chong Ae, Kirk, Edwin P, Knoers, Nine V A M, Lacombe, Didier, Lee, Chung, Lo, Ivan F M, Lucas, Luiza S, Mari, Francesca, Mericq, Veronica, Moilanen, Jukka S, Møller, Sanne Traasdahl, Moortgat, Stephanie, Pilz, Daniela T, Pope, Kate, Price, Susan, Renieri, Alessandra, Sá, Joaquim, Schoots, Jeroen, Silveira, Elizabeth L, Simon, Marleen E H, Slavotinek, Anne, Temple, I Karen, van der Burgt, Ineke, de Vries, Bert B A, Weisfeld-Adams, James D, Whiteford, Margo L, Wierczorek, Dagmar, Wit, Jan M, Yee, Connie Fung On, Beaulieu, Chandree L, cpgdsconsortium@cheo.on.ca, White, Sue M, Bulman, Dennis E, Bongers, Ernie, Brunner, Han, Feingold, Murray, Boycott, Kym M

المصدر: Orphanet Journal of Rare Diseases. 8(1)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6r91w5r2Test

المؤلفون: Posset, Roland, Garbade, Sven F., Gleich, Florian, Gropman, Andrea L., de Lonlay, Pascale, Hoffmann, Georg F., Garcia-Cazorla, Angeles, Nagamani, Sandesh C. S., Baumgartner, Matthias R., Schulze, Andreas, Dobbelaere, Dries, Yudkoff, Marc, Kölker, Stefan, Zielonka, Matthias, Ah Mew, Nicholas, Berry, Susan A., McCandless, Shawn E., Coughlin, Curtis, Enns, Gregory, Gallagher, Renata C., Burrage, Lindsay C., Seminara, Jennifer, Harding, Cary O., Burgard, Peter, Le Mons, Cynthia, Merritt, J. Lawrence, Stricker, Tamar, Bedoyan, Jirair K., Berry, Gerard T., Diaz, George A., Wong, Derek, Tuchman, Mendel, Waisbren, Susan, Weisfeld-Adams, James D., Burlina, Alberto B., Leão Teles, Elisa, Pedrón-Giner, Consuelo, Lund, Allan M., Dionisi-Vici, Carlo, Williams, Monique, Mütze, Ulrike, Karall, Daniela, Blasco-Alonso, Javier, Couce, Maria L., Sykut-Cegielska, Jolanta, Augoustides-Savvopoulou, Persephone, Ruiz Gomez, Angeles, Barić, Ivo, Schiff, Manuel, Chien, Yin-Hsiu

المساهمون: Dietmar Hopp Foundation, Kindness-for-Kids Foundation, NIH grant for the Urea Cycle Disorders Consortium, NIH grant for Intellectual and Developmental Disability Research, Kettering Fund, O'Malley Foundation, Rothenberg Family Foundation, IDDRC grant from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, German Research Foundation

المصدر: Scientific Reports ; volume 10, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-020-67496-3Test
https://www.nature.com/articles/s41598-020-67496-3.pdfTest
https://www.nature.com/articles/s41598-020-67496-3Test

المؤلفون: Mak, Christopher C Y, Doherty, Dan, Lin, Angela E, Vegas, Nancy, Cho, Megan T, Viot, Géraldine, Dimartino, Clémantine, Weisfeld-Adams, James D, Lessel, Davor, Joss, Shelagh, Li, Chumei, Gonzaga-Jauregui, Claudia, Zarate, Yuri A, Ehmke, Nadja, Horn, Denise, Troyer, Caitlin, Kant, Sarina G, Lee, Youngha, Ishak, Gisele E, Leung, Gordon, Barone Pritchard, Amanda, Yang, Sandra, Bend, Eric G, Filippini, Francesca, Roadhouse, Chelsea, Lebrun, Nicolas, Mehaffey, Michele G, Martin, Pierre-Marie, Apple, Benjamin, Millan, Francisca, Puk, Oliver, Hoffer, Mariette J V, Henderson, Lindsay B, McGowan, Ruth, Wentzensen, Ingrid M, Pei, Steven, Zahir, Farah R, Yu, Mullin, Gibson, William T, Seman, Ann, Steeves, Marcie, Murrell, Jill R, Luettgen, Sabine, Francisco, Elizabeth, Strom, Tim M, Amlie-Wolf, Louise, Kaindl, Angela M, Wilson, William G, Halbach, Sara, Basel-Salmon, Lina

المساهمون: Université Sorbonne Paris-Cité Pôle de recherche et d'enseignement supérieur, Agence Nationale de la Recherche, MSDAvenir, NIH Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH National Institute of Neurological Diseases and Stroke, NIH National Human Genome Research Institute, Health Innovation Challenge Fund, NIH

المصدر: Brain ; volume 143, issue 1, page 55-68 ; ISSN 0006-8950 1460-2156

الإتاحة: https://doi.org/10.1093/brain/awz379Test
http://academic.oup.com/brain/article-pdf/143/1/55/36604720/awz379.pdfTest

المؤلفون: Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L, Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D, Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R, Dionisi-Vici, Carlo

المصدر: Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean-Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L; Garcia-Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld-Adams, James D; Kožich, Viktor; Blom, Henk; Baumgartner, Matthias R; Dionisi-Vici, Carlo (2017). Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. Journal of Inherited Metabolic Disease, 40(1):21-48.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/132735/1/ZORA132735.pdfTest; info:pmid/27905001; urn:issn:0141-8955

الإتاحة: https://doi.org/10.5167/uzh-13273510.1007/s10545-016-9991-4Test
https://www.zora.uzh.ch/id/eprint/132735Test/
https://www.zora.uzh.ch/id/eprint/132735/1/ZORA132735.pdfTest

المؤلفون: Weisfeld-Adams, James D, Tkachuk, Amanda K, Maclean, Kenneth N, Meeks, Naomi L, Scott, Stuart A

المصدر: npj Genomic Medicine ; volume 2, issue 1 ; ISSN 2056-7944

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1038/npjgenmed.2017.1Test
https://www.nature.com/articles/npjgenmed20171.pdfTest
https://www.nature.com/articles/npjgenmed20171Test
http://www.nature.com/articles/npjgenmed20171Test

المؤلفون: Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean‐Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia‐Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld‐Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi‐Vici, Carlo

المساهمون: European Union in the framework of the Health Program.

المصدر: Journal of Inherited Metabolic Disease ; volume 40, issue 1, page 21-48 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1007/s10545-016-9991-4Test

المؤلفون: Weisfeld-Adams, James D, Tkachuk, Amanda K, Maclean, Kenneth N, Meeks, Naomi L, Scott, Stuart A

المصدر: npj Genomic Medicine ; volume 1, issue 1 ; ISSN 2056-7944

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1038/npjgenmed.2016.3Test
https://www.nature.com/articles/npjgenmed20163.pdfTest
https://www.nature.com/articles/npjgenmed20163Test

المؤلفون: Mak, Christopher C Y, Doherty, Dan, Lin, Angela E, Vegas, Nancy, Cho, Megan T, Viot, Géraldine, Dimartino, Clémantine, Weisfeld-Adams, James D, Lessel, Davor, Joss, Shelagh, Li, Chumei, Gonzaga-Jauregui, Claudia, Zarate, Yuri A, Ehmke, Nadja, Horn, Denise, Troyer, Caitlin, Kant, Sarina G, Lee, Youngha, Ishak, Gisele E, Leung, Gordon, Barone Pritchard, Amanda, Yang, Sandra, Bend, Eric G, Filippini, Francesca, Roadhouse, Chelsea, Lebrun, Nicolas, Mehaffey, Michele G, Martin, Pierre-Marie, Apple, Benjamin, Millan, Francisca, Puk, Oliver, Hoffer, Mariette J V, Henderson, Lindsay B, McGowan, Ruth, Wentzensen, Ingrid M, Pei, Steven, Zahir, Farah R, Yu, Mullin, Gibson, William T, Seman, Ann, Steeves, Marcie, Murrell, Jill R, Luettgen, Sabine, Francisco, Elizabeth, Strom, Tim M, Amlie-Wolf, Louise, Kaindl, Angela M, Wilson, William G, Halbach, Sara, Basel-Salmon, Lina, Lev-El, Noa, Denecke, Jonas, Vissers, Lisenka E L M, Radtke, Kelly, Chelly, Jamel, Zackai, Elaine, Friedman, Jan M, Bamshad, Michael J, Nickerson, Deborah A, Reid, Russell R, Devriendt, Koenraad, Chae, Jong-Hee, Stolerman, Elliot, McDougall, Carey, Powis, Zöe, Bienvenu, Thierry, Tan, Tiong Y, Orenstein, Naama, Dobyns, William B, Shieh, Joseph T, Choi, Murim, Waggoner, Darrel, Gripp, Karen W, Parker, Michael J, Stoler, Joan, Lyonnet, Stanislas, Cormier-Daire, Valérie, Viskochil, David, Hoffman, Trevor L, Amiel, Jeanne, Chung, Brian H Y, Gordon, Christopher T

المساهمون: Institut für Humangenetik

مصطلحات موضوعية: info:eu-repo/classification/ddc

العلاقة: https://mediatum.ub.tum.de/1618162Test

الإتاحة: https://doi.org/10.1093/brain/awz379Test
https://mediatum.ub.tum.de/1618162Test