المؤلفون: van Dijk, Myrthe J, van Oirschot, Brigitte A, Harrison, Alexander N, Recktenwald, Steffen M, Qiao, Min, Stommen, Amaury, Cloos, Anne‐Sophie, Vanderroost, Juliette, Terrasi, Romano, Dey, Kuntal, Bos, Jennifer, Rab, Minke A E, Bogdanova, Anna, Minetti, Giampaolo, Muccioli, Giulio G, Tyteca, Donatienne, Egée, Stéphane, Kaestner, Lars, Molday, Robert S, van Beers, Eduard J, van Wijk, Richard

المصدر: van Dijk, Myrthe J; van Oirschot, Brigitte A; Harrison, Alexander N; Recktenwald, Steffen M; Qiao, Min; Stommen, Amaury; Cloos, Anne‐Sophie; Vanderroost, Juliette; Terrasi, Romano; Dey, Kuntal; Bos, Jennifer; Rab, Minke A E; Bogdanova, Anna; Minetti, Giampaolo; Muccioli, Giulio G; Tyteca, Donatienne; Egée, Stéphane; Kaestner, Lars; Molday, Robert S; van Beers, Eduard J; van Wijk, Richard (2023). A novel missense variant in $ATP11C$ is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia. American Journal of Hematology, 98(12):1877-1887.

مصطلحات موضوعية: Institute of Veterinary Physiology, 570 Life sciences, biology, Hematology

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/237166/8/van_Dijk_American_J_Hematol_2023.pdfTest; info:pmid/37671681; urn:issn:0361-8609

الإتاحة: https://doi.org/10.5167/uzh-23716610.1002/ajh.27088Test
https://www.zora.uzh.ch/id/eprint/237166Test/
https://www.zora.uzh.ch/id/eprint/237166/8/van_Dijk_American_J_Hematol_2023.pdfTest

المؤلفون: van Dijk, Myrthe J., van Oirschot, Brigitte A., Harrison, Alexander N., Recktenwald, Steffen M., Qiao, Min, Stommen, Amaury, Cloos, Anne Sophie, Vanderroost, Juliette, Terrasi, Romano, Dey, Kuntal, Bos, Jennifer, Rab, Minke A.E., Bogdanova, Anna, Minetti, Giampaolo, Muccioli, Giulio G., Tyteca, Donatienne, Egée, Stéphane, Kaestner, Lars, Molday, Robert S., van Beers, Eduard J., van Wijk, Richard

المساهمون: CDL Rode cel, Unit Opleiding Aios, CDL Research analisten, Secretariaat Hematologie, Circulatory Health, Poli Van Creveldkliniek Medisch, Child Health, CDL Cluster Speciële Diagnostiek

مصطلحات موضوعية: Hematology

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/450479Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/450479Test

المؤلفون: van Dijk, Myrthe J, van Oirschot, Brigitte A, Harrison, Alexander N, Recktenwald, Steffen M, Qiao, Min, Stommen, Amaury, Cloos, Anne-Sophie, Vanderroost, Juliette, Terrasi, Romano, Dey, Kuntal, Bos, Jennifer, Rab, Minke A E, Bogdanova, Anna, Minetti, Giampaolo, Muccioli, Giulio G, Tyteca, Donatienne, Egée, Stéphane, Kaestner, Lars, Molday, Robert S, van Beers, Eduard J, van Wijk, Richard

المساهمون: van Dijk, Myrthe J, van Oirschot, Brigitte A, Harrison, Alexander N, Recktenwald, Steffen M, Qiao, Min, Stommen, Amaury, Cloos, Anne-Sophie, Vanderroost, Juliette, Terrasi, Romano, Dey, Kuntal, Bos, Jennifer, Rab, Minke A E, Bogdanova, Anna, Minetti, Giampaolo, Muccioli, Giulio G, Tyteca, Donatienne, Egée, Stéphane, Kaestner, Lar, Molday, Robert S, van Beers, Eduard J, van Wijk, Richard

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37671681; info:eu-repo/semantics/altIdentifier/wos/WOS:001062268400001; volume:98; issue:12; firstpage:1877; lastpage:1887; numberofpages:11; journal:AMERICAN JOURNAL OF HEMATOLOGY; https://hdl.handle.net/11571/1485755Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85169820383

الإتاحة: https://doi.org/10.1002/ajh.27088Test
https://hdl.handle.net/11571/1485755Test

المؤلفون: Oncel, Ibrahim, Baranano, Kristin, Larrieu, Lise, Iascone, Maria, Tenconi, Romano, Guissart, Claire, Harrison, Alexander N., Benkirane, Mehdi, Arslan, Elif Acar, Chassevent, Anna K., Claustres, Mireille, Eroglu-Ertugrul, Nesibe, Calvas, Patrick, Topaloglu, Haluk, Molday, Robert S., Koenig, Michel

العلاقة: 2f4350d9-db8e-45a3-b815-75f23cca9cf7; https://avesis.hacettepe.edu.tr/publication/details/2f4350d9-db8e-45a3-b815-75f23cca9cf7/oaiTest

الإتاحة: https://doi.org/10.1007/s00415-019-09579-4Test
https://avesis.hacettepe.edu.tr/publication/details/2f4350d9-db8e-45a3-b815-75f23cca9cf7/oaiTest

المؤلفون: Guissart, Claire, Harrison, Alexander N., Benkirane, Mehdi, Oncel, Ibrahim, Arslan, Elif Acar, Chassevent, Anna K ., Baraῆano, Kristin, Larrieu, Lise, Iascone, Maria, Tenconi, Romano, Claustres, Mireille, Eroglu-Ertugrul, Nesibe, Calvas, Patrick, Topaloglu, Haluk, Molday, Robert S., Koenig, Michel

المساهمون: Agence Nationale pour la Recherche (ANR)/E-rare Joint Trans-national Call (JTC) 2011 ‘Euro-SCAR’, Canadian Institutes of Health Research

المصدر: Journal of Neurology ; volume 267, issue 1, page 203-213 ; ISSN 0340-5354 1432-1459

مصطلحات موضوعية: Neurology (clinical), Neurology

الإتاحة: https://doi.org/10.1007/s00415-019-09579-4Test

المؤلفون: Heidari, Erfan, Harrison, Alexander N., Jafarinia, Ehsan, Tavasoli, Ali Reza, Almadani, Navid, Molday, Robert S., Garshasbi, Masoud

المصدر: Human Mutation; May2021, Vol. 42 Issue 5, p491-497, 7p

المؤلفون: Guissart, Claire¹ (AUTHOR) claire.guissart@inserm.fr, Harrison, Alexander N.² (AUTHOR), Benkirane, Mehdi¹ (AUTHOR), Oncel, Ibrahim³ (AUTHOR), Arslan, Elif Acar⁴ (AUTHOR), Chassevent, Anna K.⁵ (AUTHOR), Baraῆano, Kristin⁵ (AUTHOR), Larrieu, Lise¹ (AUTHOR), Iascone, Maria⁶ (AUTHOR), Tenconi, Romano⁷ (AUTHOR), Claustres, Mireille¹ (AUTHOR), Eroglu-Ertugrul, Nesibe³ (AUTHOR), Calvas, Patrick⁸ (AUTHOR), Topaloglu, Haluk³ (AUTHOR), Molday, Robert S.² (AUTHOR), Koenig, Michel¹ (AUTHOR)

المصدر: Journal of Neurology. Jan2020, Vol. 267 Issue 1, p203-213. 11p. 1 Diagram, 1 Chart, 2 Graphs.

مصطلحات موضوعية: *CEREBELLAR ataxia, *MISSENSE mutation, *CHOREA, *CEREBELLUM degeneration, *DISEASES, *ADENOSINE triphosphatase, *ATAXIA

المؤلفون: Mariani, Mélissa K., Dasmeh, Pouria, Fortin, Audray, Caron, Elise, Kalamujic, Mario, Harrison, Alexander N., Hotea, Diana I., Kasumba, Dacquin M., Cervantes-Ortiz, Sandra L., Mukawera, Espérance, Serohijos, Adrian W. R., Grandvaux, Nathalie

المصدر: Cells (2073-4409); Aug2019, Vol. 8 Issue 8, p919-919, 1p

مصطلحات موضوعية: WNT proteins, TUMOR necrosis factors, TYPE I interferons, RIBAVIRIN, INTERFERON regulatory factors