-
1دورية أكاديمية
المؤلفون: Scala, M, Wortmann, SB, Kaya, N, Stellingwerff, MD, Pistorio, A, Glamuzina, E, van Karnebeek, CD, Skrypnyk, C, Iwanicka-Pronicka, K, Piekutowska-Abramczuk, D, Ciara, E, Tort, F, Sheidley, B, Poduri, A, Jayakar, P, Jayakar, A, Upadia, J, Walano, N, Haack, TB, Prokisch, H, Aldhalaan, H, Karimiani, EG, Yildiz, Y, Ceylan, AC, Santiago-Sim, T, Dameron, A, Yang, H, Toosi, MB, Ashrafzadeh, F, Akhondian, J, Imannezhad, S, Mirzadeh, HS, Maqbool, S, Farid, A, Al-Muhaizea, MA, Alshwameen, MO, Aldowsari, L, Alsagob, M, Alyousef, A, AlMass, R, AlHargan, A, Alwadei, AH, AlRasheed, MM, Colak, D, Alqudairy, H, Khan, S, Lines, MA, Cazorla, MAG, Ribes, A, Morava, E, Bibi, F, Haider, S, Ferla, MP, Taylor, JC, Alsaif, HS, Firdous, A, Hashem, M, Shashkin, C, Koneev, K, Kaiyrzhanov, R, Efthymiou, S, Genomics, QS, Schmitt-Mechelke, T, Ziegler, A, Issa, MY, Elbendary, HM, Striano, P, Alkuraya, FS, Zaki, MS, Gleeson, JG, Barakat, TS, Bierau, J, van der Knaap, MS, Maroofian, R, Houlden, H
المصدر: Human Mutation (2022) (In press).
مصطلحات موضوعية: congenital microcephaly, developmental and epileptic encephalopathy 35, heart disease, ITPA, ITPase, white matter abnormalities
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10142352/1/Human%20Mutation%20-%202022%20-%20Scala%20-%20Clinico%E2%80%90radiological%20features%20%20molecular%20spectrum%20%20and%20identification%20of%20prognostic%20factors.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10142352Test/
-
2دورية أكاديمية
المؤلفون: Scala, M., Wortmann, S.B., Kaya, N., Stellingwerff, M.D., Pistorio, A., Glamuzina, E., van Karnebeek, C.D.M., Skrypnyk, C., Iwanicka-Pronicka, K., Piekutowska-Abramczuk, D., Ciara, E., Tort, F., Sheidley, B.R., Poduri, A., Jayakar, P., Jayakar, A., Upadia, J., Walano, N., Haack, T.B., Prokisch, H., Aldhalaan, H.M., Karimiani, E.G., Yildiz, Y., Ceylan, A.C., Dameron, A., Yang, H., Toosi, M.B., Ashrafzadeh, F., Akhondian, J., Imannezhad, S., Mirzadeh, H.S., Maqbool, S., Farid, A., Al-Muhaizea, M.A., Alshwameen, M.O., Aldowsari, L., Alsagob, M., Alyousef, A., Almass, R., AlHargan, A., Alwadei, A.H., AlRasheed, M.M., Colak, D., Alqudairy, H., Khan, S., Lines, M.A., García Cazorla, M., Ribes, A., Morava, E., Bibi, F., Haider, S., Ferla, M.P., Taylor, J.C., Alsaif, H.S., Firdous, A., Hashem, M., Shashkin, C., Koneev, K., Kaiyrzhanov, R., Efthymiou, S., Genomics, Q.S., Schmitt-Mechelke, T., Ziegler, A., Issa, M.Y., Elbendary, H.M., Striano, P., Alkuraya, F.S., Zaki, M.S., Gleeson, J.G., Barakat, T.S., Bierau, J., van der Knaap, M.S., Maroofian, R., Houlden, H.
المصدر: Hum. Mutat. 43, 403-419 (2022)
مصطلحات موضوعية: Itpa, Itpase, Congenital Microcephaly, Developmental And Epileptic Encephalopathy 35, Heart Disease, White Matter Abnormalities
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34989426; info:eu-repo/semantics/altIdentifier/wos/WOS:000741438600001; info:eu-repo/semantics/altIdentifier/isbn/1059-7794; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64010Test; urn:isbn:1059-7794; urn:issn:1059-7794; urn:issn:1098-1004
الإتاحة: https://doi.org/10.1002/humu.24326Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=64010Test -
3دورية أكاديمية
المؤلفون: Stellingwerff, M. D. (Menno D.), Figuccia, S. (Sonia), Bellacchio, E. (Emanuele), Alvarez, K. (Karin), Castiglioni, C. (Claudia), Topaloglu, P. (Pinar), Stutterd, C. A. (Chloe A.), Erasmus, C. E. (Corrie E.), Sanchez‐Valle, A. (Amarilis), Lebon, S. (Sebastien), Hughes, S. (Sarah), Schmitt-Mechelke, T. (Thomas), Vasco, G. (Gessica), Chow, G. (Gabriel), Rahikkala, E. (Elisa), Dallabona, C. (Cristina), Okuma, C. (Cecilia), Aiello, C. (Chiara), Goffrini, P. (Paola), Abbink, T. E. (Truus E.M.), Bertini, E. S. (Enrico S.), Van der Knaap, M. S. (Marjo S.)
وصف الملف: application/pdf
-
4دورية أكاديمية
المؤلفون: Stellingwerff, M.D., Figuccia, S., Bellacchio, E., Alvarez, K., Castiglioni, C., Topaloglu, P., Stutterd, C.A., Erasmus, C.E., Sanchez-Valle, A., Lebon, S., Hughes, S., Schmitt-Mechelke, T., Vasco, G., Chow, G., Rahikkala, E., Dallabona, C., Okuma, C., Aiello, C., Goffrini, P., Abbink, TEM, Bertini, E.S., Van der Knaap, M.S.
المصدر: Neurology. Genetics, vol. 7, no. 2, pp. e559
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33977142; info:eu-repo/semantics/altIdentifier/pissn/2376-7839; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_3232F68A885B2; https://serval.unil.ch/notice/serval:BIB_3232F68A885BTest; urn:issn:2376-7839; https://serval.unil.ch/resource/serval:BIB_3232F68A885B.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_3232F68A885B2Test
الإتاحة: https://doi.org/10.1212/NXG.0000000000000559Test
https://serval.unil.ch/notice/serval:BIB_3232F68A885BTest
https://serval.unil.ch/resource/serval:BIB_3232F68A885B.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_3232F68A885B2Test -
5دورية أكاديمية
المؤلفون: Papuc, S.M., Abela, L., Steindl, K., Begemann, A., Simmons, T.L., Schmitt, B., Zweier, M., Oneda, B., Socher, E., Crowther, L.M., Wohlrab, G., Gogoll, L., Poms, M., Seiler, M., Papik, M., Baldinger, R., Baumer, A., Asadollahi, R., Kroell-Seger, J., Schmid, R., Iff, T., Schmitt-Mechelke, T., Otten, K., Hackenberg, A., Addor, M.C., Klein, A., Azzarello-Burri, S., Sticht, H., Joset, P., Plecko, B., Rauch, A.
المصدر: European journal of human genetics, vol. 27, no. 3, pp. 408-421
مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, DNA Copy Number Variations, Epilepsy/diagnosis, Epilepsy/genetics, Exome, Female, Genes, Recessive, Humans, Infant, Male, Mutation Rate, Whole Exome Sequencing/methods
وصف الملف: application/pdf
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30552426; info:eu-repo/semantics/altIdentifier/eissn/1476-5438; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_2D0E099C90581; https://serval.unil.ch/notice/serval:BIB_2D0E099C9058Test; urn:issn:1018-4813; https://serval.unil.ch/resource/serval:BIB_2D0E099C9058.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_2D0E099C90581Test
الإتاحة: https://doi.org/10.1038/s41431-018-0299-8Test
https://serval.unil.ch/notice/serval:BIB_2D0E099C9058Test
https://serval.unil.ch/resource/serval:BIB_2D0E099C9058.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_2D0E099C90581Test -
6دورية أكاديمية
المؤلفون: Adams, Mark, Berger, Thomas M, Borradori-Tolsa, Cristina, Bickle-Graz, Myriam, Grunt, Sebastian, Gerull, Roland, Bassler, Dirk, Natalucci, Giancarlo, For the Swiss Neonatal Network & Follow-Up Group, Anderegg, Meyer C, Mori, A Capone, Kaeppeli, D, Schulzke, S, Weber, P, Ramelli, G P, Simonetti, B Goeggel, Nelle, M, Wagner, B, Steinlin, M, Grunt, S, Gebauer, M, Hassink, R, Bär, W, Keller, E, Killer, Ch, Fuhrer, K, Pfister, R E, Hüppi, P S, Borradori-Tolsa, C, Tolsa, J-F, Roth-kleiner, M, Bickle-graz, M, Berger, T M, Schmitt-Mechelke, T, Bauder, F, Pezzoli, V, Erkert, B, Mueller, A, Ecoffey, M, Malzacher, A, Micallef, J P, Lang-Dullenkopf, A, Hegi, L, Rhein, M Von, Bassler, D, Arlettaz, R, Bernet, V, Latal, B, Natalucci, G, Moenkhoff, M
مصطلحات موضوعية: Research
وصف الملف: text/html
العلاقة: http://bmjopen.bmj.com/cgi/content/short/9/3/e024560Test; http://dx.doi.org/10.1136/bmjopen-2018-024560Test
الإتاحة: https://doi.org/10.1136/bmjopen-2018-024560Test
http://bmjopen.bmj.com/cgi/content/short/9/3/e024560Test -
7دورية أكاديمية
المؤلفون: Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M.J., Oegema, R., Nava, C., Masurel, A., Jouan, T., Jansen, F.E., Au, M., Chen, Agnes H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A., Korostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, Julián A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C., van Gassen, K., Nelson, S., Graham, J.M., Friedman, J., Faivre, L., Lin, H.J., Thauvin-Robinet, C., Vitobello, A.
المصدر: Genetics in Medicine ; volume 21, issue 4, page 1008-1014 ; ISSN 1098-3600
الإتاحة: https://doi.org/10.1038/s41436-018-0143-0Test
http://www.nature.com/articles/s41436-018-0143-0.pdfTest
http://www.nature.com/articles/s41436-018-0143-0Test
https://api.elsevier.com/content/article/PII:S1098360021009576?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021009576?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Wolff, M. (Markus), Johannesen, K.M. (Katrine M.), Hedrich, U.B.S. (Ulrike B. S.), Masnada, S. (Silvia), Rubboli, G. (Guido), Gardella, E. (Elena), Lesca, G. (Gaetan), Ville, D. (Dorothée), Milh, M. (Mathieu), Villard, L. (Laurent), Afenjar, A. (Alexandra), Chantot-Bastaraud, S. (Sandra), Mignot, A., Lardennois, C. (Caroline), Nava, C. (Caroline), Schwarz, N. (Niklas), Gérard, M. (Marion), Perrin, L. (Laurence), Doummar, D. (Diane), Auvin, S. (Stéphane), Miranda, M.J. (Maria J.), Hempel, M. (Maja), Brilstra, E. (Eva), Knoers, N.V.A.M. (Nine), Verbeek, N.E. (Nienke), Kempen, M.J.A. (M. J A) van, Braun, K.P. (Kees P.), Mancini, G.M.S. (Grazia), Biskup, S. (Saskia), Hörtnagel, K. (Konstanze), Döcker, M. (Miriam), Bast, T. (Thomas), Loddenkemper, T. (Tobias), Wong-Kisiel, L. (Lily), Baumeister, F.M. (Friedrich M.), Fazeli, W. (Walid), Striano, P. (Pasquale), Dilena, R. (Robertino), Fontana, E. (Elena), Zara, F. (Federico), Kurlemann, G. (Gerhard), Klepper, J. (Joerg), Thoene, J.G. (Jess G.), Arndt, D.H. (Daniel H.), Deconinck, N. (Nicolas), Schmitt-Mechelke, T. (Thomas), Maier, O. (Oliver), Muhle, H. (Hiltrud), Wical, B. (Beverly), Finetti, C. (Claudio), Brückner, R. (Reinhard), Pietz, J. (Joachim), Golla, G. (Günther), Jillella, D. (Dinesh), Linnet, K.M. (Karen M.), Charles, P. (Perrine), Moog, U. (Ute), Õiglane-Shlik, E. (Eve), Mantovani, J.F. (John F.), Park, K. (Kristen), Deprez, M. (Marie), Lederer, D. (Damien), Mary, S. (Sandrine), Scalais, E. (Emmanuel), Selim, L. (Laila), Coster, R.N.A. (R. N A) van, Lagae, L. (Lieven), Nikanorova, M. (Marina), Hjalgrim, H. (Helle), Korenke, G.C. (Christoph), Trivisano, M. (Marina), Specchio, N. (Nicola), Ceulemans, B. (Berten), Dorn, T. (Thomas), Helbig, K.L. (Katherine L.), Hardies, K. (K.), Stamberger, H. (Hannah), Jonghe, P. (P.) de, Weckhuysen, S. (Sarah), Lemke, J.R. (Johannes R.), Krägeloh-Mann, I. (Ingeborg), Helbig, I. (Ingo), Kluger, G. (Gerhard), Lerche, H. (Holger), Møller, R.S. (Rikke)
المصدر: Brain: a journal of neurology vol. 140 no. 5, pp. 1316-1336
مصطلحات موضوعية: epilepsy, epilepsy genetics, SCN2A, sodium channel blockers, treatment response
العلاقة: info:eu-repo/grantAgreement/EC/FP7/279062; http://repub.eur.nl/pub/100043Test; urn:hdl:1765/100043
-
9دورية أكاديمية
المؤلفون: Theunissen, T E J, Szklarczyk, R, Gerards, M, Hellebrekers, DMEI, den Hartog, NM (Elvira), Vanoevelen, J, Kamps, R, de Koning, B, Rutledge, S L, Schmitt-Mechelke, T, van Berkel, CGM, van der Knaap, MS, Coo, IFM, Smeets, HJM
المصدر: Theunissen , T E J , Szklarczyk , R , Gerards , M , Hellebrekers , DMEI , den Hartog , NM , Vanoevelen , J , Kamps , R , de Koning , B , Rutledge , S L , Schmitt-Mechelke , T , van Berkel , CGM , van der Knaap , MS , Coo , IFM & Smeets , HJM 2016 , ' Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects ' , Frontiers in Neurology , vol. 7 , 203 . https://doi.org/10.3389/fneur.2016.00203Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.3389/fneur.2016.00203Test
https://pure.eur.nl/en/publications/409e3450-9838-42fb-8489-ca121eb1ecc1Test
https://pure.eur.nl/ws/files/47724025/REPUB_94954.pdfTest
http://hdl.handle.net/1765/94954Test -
10دورية أكاديمية
المؤلفون: Caspar-Teuscher, Miriam, Studer, Martina, Regényi, Maria, Steinlin, Maja, Grunt, Sebastian, Bigi, Sandra, Mori, Andrea Capone, Datta, Alexandre, Fluss, Joel, Hackenberg, Annette, Keller, Elmar, Maier, Oliver, Mercati, Danielle, Marcoz, Jean-Pierre, Poloni, Claudia, Ramelli, Gian-Paolo, Schmid, R, Schmitt-Mechelke, T
المصدر: Caspar-Teuscher, Miriam; Studer, Martina; Regényi, Maria; Steinlin, Maja; Grunt, Sebastian; Bigi, Sandra; Mori, Andrea Capone; Datta, Alexandre; Fluss, Joel; Hackenberg, Annette; Keller, Elmar; Maier, Oliver; Mercati, Danielle; Marcoz, Jean-Pierre; Poloni, Claudia; Ramelli, Gian-Paolo; Schmid, R; Schmitt-Mechelke, T (2019). Health related quality of life and manual ability 5 years after neonatal ischemic stroke. European Journal of Paediatric Neurology, 23(5):716-722.
مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, Pediatrics, Perinatology, and Child Health, Clinical Neurology, General Medicine
العلاقة: https://www.zora.uzh.ch/181733Test; info:pmid/31473077; urn:issn:1090-3798
الإتاحة: https://doi.org/10.1016/j.ejpn.2019.08.002Test
https://www.zora.uzh.ch/id/eprint/181733Test/
https://www.zora.uzh.ch/181733Test
النص الكامل