المؤلفون: Bryant L., Li D., Cox S. G., Marchione D., Joiner E. F., Wilson K., Janssen K., Lee P., March M. E., Nair D., Sherr E., Fregeau B., Wierenga K. J., Wadley A., Mancini G. M. S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H. P., Powis Z., Cho M. T., Willing M. C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C. B., Retterer K., Schuette J. L., Innis J. W., Pizzino A., Luttgen S., Denecke J., Strom T. M., Monaghan K. G., Yuan Z. -F., Dubbs H., Bend R., Lee J. A., Lyons M. J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K. L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M. H., Ounap K., Ilves P., Innes A. M., Kernohan K. D., Costain G., Meyn M. S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M. G., Martinez-Agosto J. A., Nelson S. F., Palmer C. G. S., Papp J. C., Parker N. H., Sinsheimer J. S., Vilain E., Wan J., Yoon A. J., Zheng A., Brimble E., Ferrero G. B., Radio F. C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J. M., Umana L., Weiss M. M., Gotway G., Stuurman K. E., Thompson M. L., McWalter K., Stumpel C. T. R. M., Stevens S. J. C., Stegmann A. P. A., Tveten K., Vollo A., Prescott T., Fagerberg C., Laulund L. W., Larsen M. J., Byler M., Lebel R. R., Hurst A. C., Schrier Vergano S. A., Norman J., Mercimek-Andrews S., Neira J., Van Allen M. I., Longo N., Sellars E., Louie R. J., Cathey S. S., Brokamp E., Heron D., Snyder M., Vanderver A., Simon C., de la Cruz X., Padilla N., Crump J. G., Chung W., Garcia B., Hakonarson H. H., Bhoj E. J.

المساهمون: Bryant L., Li D., Cox S.G., Marchione D., Joiner E.F., Wilson K., Janssen K., Lee P., March M.E., Nair D., Sherr E., Fregeau B., Wierenga K.J., Wadley A., Mancini G.M.S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H.P., Powis Z., Cho M.T., Willing M.C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C.B., Retterer K., Schuette J.L., Innis J.W., Pizzino A., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap K., Ilves P., Innes A.M., Kernohan K.D., Costain G., Meyn M.S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M.G., Martinez-Agosto J.A., Nelson S.F., Palmer C.G.S., Papp J.C., Parker N.H., Sinsheimer J.S., Vilain E., Wan J., Yoon A.J., Zheng A., Brimble E., Ferrero G.B., Radio F.C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J.M., Umana L., Weiss M.M., Gotway G., Stuurman K.E., Thompson M.L., McWalter K., Stumpel C.T.R.M., Stevens S.J.C.

مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207Test

الإتاحة: https://doi.org/10.1126/sciadv.abc9207Test
http://hdl.handle.net/2318/1764207Test
https://advances.sciencemag.org/content/6/49/eabc9207Test

المؤلفون: de Wit, Marie Claire, Verheijen-Mancini, GS, Dremmen, Marjolein, Schot, R (Rachel), Wilke, Martina

المصدر: de Wit , M C , Verheijen-Mancini , GS , Dremmen , M , Schot , R & Wilke , M 2021 , ' Biallelic DAB1 Variants Are Associated With Mild Lissencephaly and Cerebellar Hypoplasia ' , Neurology: Genetics , vol. 7 , no. 2 , pp. e558 . https://doi.org/10.1212/NXG.0000000000000558Test

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/90491623-c09b-43cf-a512-a79e89101ff5Test

الإتاحة: https://doi.org/10.1212/NXG.0000000000000558Test
https://pure.eur.nl/en/publications/90491623-c09b-43cf-a512-a79e89101ff5Test
https://pure.eur.nl/ws/files/94357055/2021_Mancini_DAB1_NeurolGenet.pdfTest

المؤلفون: Brock, S, Vanderhasselt, T, Vermaning, S, Keymolen, K, Regal, L, Romaniello, R, Wieczorek, D, Storm, TM, Schaeferhoff, K, Hehr, U, Kuechler, A, Kraegeloh-Mann, I, Haack, TB, Kasteleijn, E, Schot, R, Mancini, GMS, Webster, R, Mohammad, S, Leventer, RJ, Mirzaa, G, Dobyns, WB, Bahi-Buisson, N, Meuwissen, M, Jansen, AC, Stouffs, K

العلاقة: pii: jmedgenet-2019-106740; Brock, S., Vanderhasselt, T., Vermaning, S., Keymolen, K., Regal, L., Romaniello, R., Wieczorek, D., Storm, T. M., Schaeferhoff, K., Hehr, U., Kuechler, A., Kraegeloh-Mann, I., Haack, T. B., Kasteleijn, E., Schot, R., Mancini, G. M. S., Webster, R., Mohammad, S., Leventer, R. J. ,. Stouffs, K. (2021). Defining the phenotypical spectrum associated with variants in TUBB2A. JOURNAL OF MEDICAL GENETICS, 58 (1), pp.33-40. https://doi.org/10.1136/jmedgenet-2019-106740Test.; http://hdl.handle.net/11343/252101Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106740Test
http://hdl.handle.net/11343/252101Test

المؤلفون: Brock, S. (Stefanie), Vanderhasselt, T. (Tim), Vermaning, S. (Sietske), Keymolen, K. (Kathelijn), Régal, L. (Luc), Romaniello, R. (Romina), Wieczorek, D. (Dagmar), Storm, T.M. (Tim Matthias), Schaeferhoff, K. (Karin), Hehr, U. (Ute), Kuechler, A. (Alma), Krägeloh-Mann, I. (Ingeborg), Haack, T.B. (Tobias B.), Kasteleijn, E. (Esmee), Schot, R. (Rachel), Mancini, G.M.S. (Grazia), Webster, R. (Richard), Mohammad, S. (Shekeeb), Leventer, R.J. (Richard), Mirzaa, G.M. (Ghayda), Dobyns, W.B. (William), Bahi-Buisson, N. (Nadia), Meuwissen, M.E.C. (Marije), Jansen, A.C. (Anna C.), Stouffs, K. (Katrien)

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: clinical genetics, epilepsy and seizures, genetics, neurology, neurosciences

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/128184Test; urn:hdl:1765/128184

الإتاحة: https://doi.org/10.1136/jmedgenet-2019-106740Test
http://repub.eur.nl/pub/128184Test

المؤلفون: MacKenzie, K.C., Graaf, B.M. (Bianca) de, Syrimis, A., Zhao, Y, Brosens, E. (Erwin), Mancini, G.M.S. (Grazia), Schot, R. (Rachel), Halley, D., Wilke, M. (Martina), Vøllo, A., Flinter, F. (Frances), Green, A., Mansour, S, Pilch, J. (Jacek), Stark, Z, Zamba-Papanicolaou, E., Christophidou-Anastasiadou, V., Hofstra, R.M.W. (Robert), Jongbloed, J.D., Nicolaou, N. (Nayia), Tanteles, G.A., Brooks, A.S. (Alice), Alves, M.M. (Maria)

المصدر: Human Mutation vol. 41 no. 11, pp. 1906-1917

مصطلحات موضوعية: GOSHS, HSCR, KIAA1279, KIFBP, missense variants

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/133815Test; urn:hdl:1765/133815

الإتاحة: https://doi.org/10.1002/humu.24097Test
http://repub.eur.nl/pub/133815Test

المؤلفون: MacKenzie, KC, de Graaf, BM, Syrimis, A, Zhao, Y, Brosens, E, Mancini, GMS, Schot, R, Halley, D, Wilke, M, Vollo, A, Flinter, F, Green, A, Mansour, S, Pilch, J, Stark, Z, Zamba-Papanicolaou, E, Christophidou-Anastasiadou, V, Hofstra, RMW, Jongbloed, JDH, Nicolaou, N, Tanteles, GA, Brooks, AS, Alves, MM

العلاقة: MacKenzie, K. C., de Graaf, B. M., Syrimis, A., Zhao, Y., Brosens, E., Mancini, G. M. S., Schot, R., Halley, D., Wilke, M., Vollo, A., Flinter, F., Green, A., Mansour, S., Pilch, J., Stark, Z., Zamba-Papanicolaou, E., Christophidou-Anastasiadou, V., Hofstra, R. M. W., Jongbloed, J. D. H. ,. Alves, M. M. (2020). Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. HUMAN MUTATION, 41 (11), pp.1906-1917. https://doi.org/10.1002/humu.24097Test.; http://hdl.handle.net/11343/252587Test

الإتاحة: https://doi.org/10.1002/humu.24097Test
http://hdl.handle.net/11343/252587Test

المؤلفون: Vandervore, LV, Schot, R, Milanese, C, Smits, DJ, Kasteleijn, E, Fry, AE, Pilz, DT, Brock, S, Börklü-Yücel, E, Post, M, Bahi-Buisson, N, Sánchez-Soler, MJ, van Slegtenhorst, M, Keren, B, Afenjar, A, Coury, SA, Tan, W-H, Oegema, R, de Vries, LS, Fawcett, KA, Nikkels, PGJ, Bertoli-Avella, A, Al Hashem, A, Alwabel, AA, Tlili-Graiess, K, Efthymiou, S, Zafar, F, Rana, N, Bibi, F, Houlden, H, Maroofian, R, Person, RE, Crunk, A, Savatt, JM, Turner, L, Doosti, M, Karimiani, EG, Saadi, NW, Akhondian, J, Lequin, MH, Kayserili, H, van der Spek, PJ, Jansen, AC, Kros, JM, Verdijk, RM, Milošević, NJ, Fornerod, M, Mastroberardino, PG, Mancini, GMS

المصدر: American Journal of Human Genetics , 105 (6) pp. 1126-1147. (2019)

مصطلحات موضوعية: PDI, SERCA2, TMX2, calnexin, epilepsy, hydrogen peroxide, microcephaly, mitochondria-associated membrane, polymicrogyria, redox

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10087996/1/Efthymiou%20AJHG-D-19-00366_R4.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10087996Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10087996/1/Efthymiou%20AJHG-D-19-00366_R4.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10087996Test/

المؤلفون: Lee, S, Chen, DY, Zaki, MS, Maroofian, R, Houlden, H, Di Donato, N, Abdin, D, Morsy, H, Mirzaa, GM, Dobyns, WB, McEvoy-Venneri, J, Stanley, V, James, KN, Mancini, GMS, Schot, R, Kalayci, T, Altunoglu, U, Karimiani, EG, Brick, L, Kozenko, M, Jamshidi, Y, Manzini, MC, Beiraghi Toosi, M, Gleeson, JG

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111260/13/APC2Ver14_rev2_submission.docxTest; https://openaccess.sgul.ac.uk/id/eprint/111260/15/Fig1.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/111260/20/Fig2.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/111260/25/Fig3.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/111260/8/APC2Ver14_rev2_supplemental.pdfTest; Lee, S; Chen, DY; Zaki, MS; Maroofian, R; Houlden, H; Di Donato, N; Abdin, D; Morsy, H; Mirzaa, GM; Dobyns, WB; et al. Lee, S; Chen, DY; Zaki, MS; Maroofian, R; Houlden, H; Di Donato, N; Abdin, D; Morsy, H; Mirzaa, GM; Dobyns, WB; McEvoy-Venneri, J; Stanley, V; James, KN; Mancini, GMS; Schot, R; Kalayci, T; Altunoglu, U; Karimiani, EG; Brick, L; Kozenko, M; Jamshidi, Y; Manzini, MC; Beiraghi Toosi, M; Gleeson, JG (2019) Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay. Am J Hum Genet, 105 (4). pp. 844-853. ISSN 1537-6605 https://doi.org/10.1016/j.ajhg.2019.08.013Test SGUL Authors: Jamshidi, Yalda

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.08.013Test
https://openaccess.sgul.ac.uk/id/eprint/111260Test/
https://openaccess.sgul.ac.uk/id/eprint/111260/13/APC2Ver14_rev2_submission.docxTest
https://openaccess.sgul.ac.uk/id/eprint/111260/15/Fig1.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/111260/20/Fig2.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/111260/25/Fig3.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/111260/8/APC2Ver14_rev2_supplemental.pdfTest

المؤلفون: Stroobants, S. (Stijn), Van Acker, N.G.G. (Nathalie G.G.), Verheijen, F.W. (Frans), Goris, I. (Ilse), Daneels, R.F., Schot, R. (Rachel), Verbeek, E. (Elly), Knaapen, M.W. (Michiel), Bondt, A. (An) de, Göhlmann, H.W.H. (Hinrich W. H.), Crauwels, M.L.A. (Marion L.A.), Mancini, G.M.S. (Grazia), Andries, L.J. (Luc J.), Moechars, D. (Dieder), D'Hooge, R. (Rudi)

المصدر: Experimental Neurology vol. 291, pp. 106-119

مصطلحات موضوعية: Behavior, Development, Mouse model, Myelination, Oligodendrocyte lineage, Sialic acid storage disease, Sialin

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/98085Test; urn:hdl:1765/98085

الإتاحة: https://doi.org/10.1016/j.expneurol.2017.02.009Test
http://repub.eur.nl/pub/98085Test

المؤلفون: De Mori, R. (Roberta), Romani, M. (Marta), D'Arrigo, S. (Stefano), Zaki, M.S. (Maha), Lorefice, E. (Elisa), Tardivo, S. (Silvia), Biagini, T. (Tommaso), Stanley, V. (Valentina), Musaev, D. (Damir), Fluss, J. (Joel), Micalizzi, A. (Alessia), Nuovo, S. (Sara), Illi, B. (Barbara), Chiapparini, L. (Luisa), Di Marcotullio, L. (Lucia), Issa, M.Y. (Mahmoud Y.), Anello, D. (Danila), Casella, A. (Antonella), Ginevrino, M. (Monia), Leggins, A.S. (Autumn Sa'na), Roosing, S. (Susanne), Alfonsi, R. (Romina), Rosati, J. (Jessica), Schot, R. (Rachel), Mancini, G.M.S. (Grazia), Bertini, E. (Enrico), Dobyns, W.B. (William), Mazza, T. (Tommaso), Gleeson, J.G. (Joseph G.), Valente, J. (José)

المصدر: American Journal of Human Genetics

مصطلحات موضوعية: Ciliopathies, Congenital ataxia, Developmental defects, GLI3, Hypomorphic variants, Joubert syndrome, Molar tooth sign, Polymicrogyria, Sonic Hedgehog, SUFU

العلاقة: http://repub.eur.nl/pub/102295Test; urn:hdl:1765/102295

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.08.017Test
http://repub.eur.nl/pub/102295Test