المؤلفون: Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt II

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Lysosomal storage disease, Non-immune hydrops fetalis, β-glucuronidase deficiency, Mucopolysaccharidosis VII, MPS VII, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/035cbead2c0241dba2d01dd40974329c

المؤلفون: Michal Inbar-Feigenberg, Barbara Burton, Amarilis Sanchez-Valle, Jerry Vockley, Anjali Aggarwal, Joel Hetzer, Bridget Reineking, Andrew Grimm

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100890- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424000360; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/7494643b153e4bb9a58770c5ad3aed40

المؤلفون: Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Barbara Burton, Ans van der Ploeg, Esmeralda Martins, Consuelo Durand, Brigitte Chabrol, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101157- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424003030; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/aa2da1fa7f1f46a4a2ce1c92fa0270f8

المؤلفون: Can Ficicioglu, Nicole Muschol, Barbara Burton, Martin Magner, Mercedes Gil-Campos, Monica Lopez Rodriguez, Parul Jayakar, Allan Lund, Galit Tal, Jose Elias Garcia-Ortiz, Karolina Stepien, Carolyn Ellaway, Walla Al-Hertani, Roberto Giugliani, Sara Cathey, Julia Hennermann, Christina Lampe, Markey McNutt, Florian Lagler, Maurizio Scarpa, Vernon Sutton, Nathalie Guffon

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 101385- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424005314; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/dc3764e5ff4e49c6bda982c9b948cc22

المؤلفون: Lot Snijders Blok, Jolijn Verseput, Dmitrijs Rots, Hanka Venselaar, A. Micheil Innes, Connie Stumpel, Katrin Õunap, Karit Reinson, Eleanor G. Seaby, Shane McKee, Barbara Burton, Katherine Kim, Johanna M. van Hagen, Quinten Waisfisz, Pascal Joset, Katharina Steindl, Anita Rauch, Dong Li, Elaine H. Zackai, Sarah E. Sheppard, Beth Keena, Hakon Hakonarson, Andreas Roos, Nicolai Kohlschmidt, Anna Cereda, Maria Iascone, Erika Rebessi, Kristin D. Kernohan, Philippe M. Campeau, Francisca Millan, Jesse A. Taylor, Hanns Lochmüller, Martin R. Higgs, Amalia Goula, Birgitta Bernhard, Danita J. Velasco, Andrew A. Schmanski, Zornitza Stark, Lyndon Gallacher, Lynn Pais, Paul C. Marcogliese, Shinya Yamamoto, Nicholas Raun, Taryn E. Jakub, Jamie M. Kramer, Joery den Hoed, Simon E. Fisher, Han G. Brunner, Tjitske Kleefstra

المصدر: HGG Advances, Vol 4, Iss 1, Pp 100157- (2023)

مصطلحات موضوعية: WDR5, COMPASS, neurodevelopmental disorders, intellectual disability, Mendelian disorders, multiple congenital abnormalities, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000744; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/c93dab48c10f4d9a93b8d87c61542fd8

المؤلفون: Barbara Burton, Can Ficicioglu, Helio Pedro, Ravi Pathak, Ian Robinson, Ekaterina Wright, Joseph Muenzer

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100161- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423001619; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/68a37484062542a593963d5369d1189e

المؤلفون: Carolina J Jorgez, Jill A Rosenfeld, Nathan R Wilken, Hima V Vangapandu, Aysegul Sahin, Dung Pham, Claudia M B Carvalho, Anne Bandholz, Amanda Miller, David D Weaver, Barbara Burton, Deepti Babu, John S Bamforth, Timothy Wilks, Daniel P Flynn, Elizabeth Roeder, Ankita Patel, Sau W Cheung, James R Lupski, Dolores J Lamb

المصدر: PLoS ONE, Vol 9, Iss 9, p e107028 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4159299?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/a6dba8ad6ada4ea8815da5d64033dc6b

المؤلفون: Bárbara Burton

المصدر: Tapuya, Vol 6, Iss 1 (2023)

مصطلحات موضوعية: Technology (General), T1-995, Social sciences (General), H1-99

Relation: https://doaj.org/toc/2572-9861; https://doaj.org/article/a366c898f3554a569f9b95e00d3f664f

الاتاحة: https://doi.org/10.1080/25729861.2023.2178818
https://doaj.org/article/a366c898f3554a569f9b95e00d3f664f

المؤلفون: Padmini Varadarajan, Ramdas G. Pai, Gary E. Fraser, Dmitry Abramov, Brice Jabo, Andrew Mashchak, Patricia Herring, Barbara Burton, Lars E. Sveen, Synnove F. Knutsen

المصدر: The British journal of nutrition.

مصطلحات موضوعية: Nutrition and Dietetics, Medicine (miscellaneous)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be48307737a1412a2ec512605c509288
https://pubmed.ncbi.nlm.nih.gov/36261414

المؤلفون: Jerry Vockley, Barbara Burton, Agnieszka Jurecka, Jitendra Ganju, Beth Leiro, Roberto Zori, Nicola Longo

المصدر: Molecular Genetics and Metabolism. 139:107612

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9116a177b476738d6a6f1385bc8b00bb
https://doi.org/10.1016/j.ymgme.2023.107612

المؤلفون: Eric Y. Drogin, Barbara Burton

المصدر: Harvard Review of Psychiatry. 29:234-239

مصطلحات موضوعية: Collateral, Interpretation (philosophy), Digital data, MEDLINE, Subject (documents), Mental health, 030227 psychiatry, 03 medical and health sciences, Psychiatry and Mental health, Mental Health, 0302 clinical medicine, Humans, Engineering ethics, State (computer science), Everyday life, Psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11e4c9031cc77ee30cf24d11a4a5b61f
https://doi.org/10.1097/hrp.0000000000000291

المؤلفون: Margaret Carey, Mathew J. Edick, Kaitlin Justice, Barbara Burton

المصدر: Molecular Genetics and Metabolism. 138:107396

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cef15b1f9b39e8b76791d6e88af79a84
https://doi.org/10.1016/j.ymgme.2023.107396

المؤلفون: Bernd C. Schwahn, Gerard T. Berry, Saikat Santra, Hilary Vernon, Hong Li, J. Lawrence Merritt, Manuel Schiff, Brigitte Chabrol, Javier De las Heras, Jerry Vockley, Chung Lee, Dwight Koeberl, Barbara Burton, Stephanie Grunewald, Thomas Morgan, George Diaz, Can Ficicioglu, Junxiang Luo, Husain Attarwala, Vanja Sikirica, Min Liang, Lin T. Guey, Christine Lukacs, Paolo G.V. Martini, Ruchira Glaser, Nuria Carrillo

المصدر: Molecular Genetics and Metabolism. 138:107476

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d98e19219ff55e05aaaa43b72e7a2355
https://doi.org/10.1016/j.ymgme.2023.107476

المؤلفون: Manuel Schiff, Bernd C. Schwahn, Brigitte Chabrol, J. Lawrence Merritt, Jerry Vockley, Hilary Vernon, Gerard T. Berry, Saikat Santra, Chung Lee, Dwight Koeberl, Hong Li, Barbara Burton, Javier De las Heras, George Diaz, Mariana Faria-Urbina, Junxiang Luo, Husain Attarwala, Vanja Sikirica, Min Liang, Lin T. Guey, Christine Lukacs, Paolo G.V. Martini, Ruchira Glaser, Nuria Carrillo

المصدر: Molecular Genetics and Metabolism. 138:107475

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2becc8fbe21f519d92c16a7196b660af
https://doi.org/10.1016/j.ymgme.2023.107475

المؤلفون: Rachel Hickey, Barbara Burton, J. Whitehead, Jennifer Rubin

المصدر: Genetics in Medicine. 24:S88-S89

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7484f8655eb8ae28822702e44e7ce8c8
https://doi.org/10.1016/j.gim.2022.01.179

المؤلفون: Barbara Burton, Anne Daly

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d5d91acd805d921cf6970e61bc6ed714
https://doi.org/10.1159/isbn.978-3-318-06963-1

المؤلفون: Anna Bakardjiev, Paul Harmatz, Barbara Burton, Maria Escolar, Joseph Muenzer, Simon Jones, Charlene Chen, Rupa Caprihan, Akhil Bhalla, Vinay Daryani, Jeffrey Harris, Yuda Zhu, Carole Ho, Matthew Troyer

المصدر: Molecular Genetics and Metabolism. 135:S20-S21

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::17ff5846069d5355f903d33d64432f6c
https://doi.org/10.1016/j.ymgme.2021.11.033

المؤلفون: Barbara Burton, Peter J. Fagan, Fabian M. Saleh

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::34dbdd1218b95c46f5dc128e1150eac6
https://doi.org/10.1093/med/9780190884369.003.0001

المؤلفون: Stephanie Sacharow, Hope Northrup, Kaleigh Bulloch Whitehall, Richard Rowell, Kristin Lindstrom, Barbara Burton, Janet Thomas

المصدر: Molecular Genetics and Metabolism. 136:S23

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe2ec4631cc6053e97fa33f980ee1110
https://doi.org/10.1016/s1096-7192(22)00222-0

المؤلفون: Joseph Muenzer, Maurizio Scarpa, Anna Tylki-Szymańska, Hernan Amartino, Paul Harmatz, Shuan-Pei Lin, Bianca Link, David Molter, Julian Raiman, David A.H. Whiteman, Jaco Botha, Dalia Jazukeviciene, Daniel Fertek, Jennifer Audi, Barbara Burton

المصدر: Molecular Genetics and Metabolism. 135:S86

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::eb401f8aa56dd1e3b2835407cfbfacb3
https://doi.org/10.1016/j.ymgme.2021.11.223