المؤلفون: Lamiaa Bahnassawy, Nathalie Nicolaisen, Christopher Untucht, Benjamin Mielich-Süss, Lydia Reinhardt, Janina S. Ried, Martina P. Morawe, Daniela Geist, Anja Finck, Elke Käfer, Jürgen Korffmann, Matthew Townsend, Brinda Ravikumar, Viktor Lakics, Miroslav Cik, Peter Reinhardt

المصدر: SLAS Discovery, Vol 29, Iss 2, Pp 100137- (2024)

مصطلحات موضوعية: Neurodegenerative diseases, In vitro screening, Human pluripotent stem cells, High content screening, Small molecule screening, Gene knockdown screening, Medicine (General), R5-920, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2472555223000990; https://doaj.org/toc/2472-5552

URL الوصول: https://doaj.org/article/88acc957513a468cbf3eadb12ef4e1e8

المؤلفون: Katrine M, Johannesen, Diana, Mitter, Robert, Janowski, Christian, Roth, Joseph, Toulouse, Anne-Lise, Poulat, Dorothee M, Ville, Nicolas, Chatron, Eva, Brilstra, Karin, Geleijns, Alfred Peter, Born, Scott, McLean, Kimberly, Nugent, Gareth, Baynam, Cathryn, Poulton, Lauren, Dreyer, Dylan, Gration, Solveig, Schulz, Andrea, Dieckmann, Katherine L, Helbig, Andreas, Merkenschlager, Rami, Jamra, Anja, Finck, Elena, Gardella, Helle, Hjalgrim, Ghayda, Mirzaa, Francesco, Brancati, Tatjana, Bierhals, Jonas, Denecke, Maja, Hempel, Johannes R, Lemke, Guido, Rubboli, Petra, Muschke, Renzo, Guerrini, Annalisa, Vetro, Dierk, Niessing, Gaetan, Lesca, Rikke S, Møller

المصدر: Neurology: Genetics

مصطلحات موضوعية: Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5bde2a0b18efb4fae54fc23de8b6c0c4
https://pubmed.ncbi.nlm.nih.gov/32042906

المؤلفون: Gareth Baynam, Christian Roth, Joseph Toulouse, Guido Rubboli, Karin Geleijns, Jonas Denecke, Robert Janowski, Dylan Gration, Diana Mitter, Alfred Peter Born, Dierk Niessing, Anne-Lise Poulat, Kimberly Nugent, Cathryn Poulton, Renzo Guerrini, Ghayda M. Mirzaa, Nicolas Chatron, Scott D. McLean, Eva H. Brilstra, H. Hjalgrim, Annalisa Vetro, Dorothée Ville, Rami Abou Jamra, Lauren Dreyer, Francesco Brancati, Katrine M Johannesen, Petra Muschke, Maja Hempel, Rikke S. Møller, Katherine L. Helbig, Gaetan Lesca, Anja Finck, Andrea Dieckmann, Tatjana Bierhals, E. Gardella, Andreas Merkenschlager, Solveig Schulz, Johannes R. Lemke

المصدر: Neurol. Genet. 5:e373 (2019)
Johannesen, K M, Mitter, D, Janowski, R, Roth, C, Toulouse, J, Poulat, A-L, Ville, D M, Chatron, N, Brilstra, E, Geleijns, K, Born, A P, McLean, S, Nugent, K, Baynam, G, Poulton, C, Dreyer, L, Gration, D, Schulz, S, Dieckmann, A, Helbig, K L, Merkenschlager, A, Jamra, R, Finck, A, Gardella, E, Hjalgrim, H, Mirzaa, G, Brancati, F, Bierhals, T, Denecke, J, Hempel, M, Lemke, J R, Rubboli, G, Muschke, P, Guerrini, R, Vetro, A, Niessing, D, Lesca, G & Møller, R S 2019, ' Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy ', Neurology: Genetics, vol. 5, no. 6, pp. e373 . https://doi.org/10.1212/NXG.0000000000000373

مصطلحات موضوعية: 0303 health sciences, Pediatrics, medicine.medical_specialty, Progressive microcephaly, Microcephaly, business.industry, Genetic counseling, Encephalopathy, medicine.disease, Irritability, Short stature, Hypotonia, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, medicine, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ba057633471541e000792c0a2ee415a
http://hdl.handle.net/11697/143227