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1دورية أكاديميةDe novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency
المؤلفون: Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram, Alysia Kern Lovgren, Christina Austin-Tse, Vijay S. Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Lluís Palenzuela, Grace VanNoy, Anne O’Donnell-Luria, Travis H. Stracker
المصدر: iScience, Vol 27, Iss 6, Pp 109984- (2024)
مصطلحات موضوعية: neuroscience, genetics, immunology, Science
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2589004224012069Test; https://doaj.org/toc/2589-0042Test
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2دورية أكاديمية
المؤلفون: Sandra Segura-Bayona, Marina Villamor-Payà, Camille Stephan-Otto Attolini, Lars M. Koenig, Maria Sanchiz-Calvo, Simon J. Boulton, Travis H. Stracker
المصدر: Cell Reports, Vol 32, Iss 5, Pp 107983- (2020)
مصطلحات موضوعية: TLK1, TLK2, ASF1, heterochromatin, H3.3, telomeres, Biology (General), QH301-705.5
العلاقة: http://www.sciencedirect.com/science/article/pii/S2211124720309682Test; https://doaj.org/toc/2211-1247Test; https://doaj.org/article/fb3250859cdb404aac7e087f433bf693Test
الإتاحة: https://doi.org/10.1016/j.celrep.2020.107983Test
https://doaj.org/article/fb3250859cdb404aac7e087f433bf693Test -
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المؤلفون: María Sanchiz Calvo
مصطلحات موضوعية: Western blot, medicine.diagnostic_test, medicine, Biology, Rat brain, Molecular biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3e8cf0c8101b9a14759ddeae7b0a9a65Test
https://doi.org/10.17504/protocols.io.byhfpt3nTest -
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المؤلفون: María Sanchiz-Calvo, Veerle Baekelandt, Eduard Bentea
المصدر: Current opinion in neurobiology. 72
مصطلحات موضوعية: Parkinson's disease, Rodent, biology, business.industry, General Neuroscience, Parkinsonism, Parkinson Disease, Rodentia, Disease, Endosomes, medicine.disease, LRRK2, nervous system diseases, VPS35, biology.animal, medicine, Animals, Parkinsonian features, business, Lysosomes, Gene, Neuroscience
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eba09919162681c1b5965252205b6d3fTest
https://pubmed.ncbi.nlm.nih.gov/34628360Test