المؤلفون: Lenaerts, L, Reynhout, S, Verbinnen, I, Laumonnier, F, Toutain, A, Bonnet-Brilhault, F, Hoorne, Y, Joss, S, Chassevent, AK, Smith-Hicks, C, Loeys, B, Joset, P, Steindl, K, Rauch, A, Mehta, SG, Chung, WK, DeVriendt, K, Holder, SE, Jewett, T, Baldwin, LM, Wilson, WG, Towner, S, Srivastava, S, Johnson, HF, Daumer-Haas, C, Baethmann, M, Ruiz, A, Gabau, E, Jain, V, Varghese, V, Al-Beshri, A, Fulton, S, Wechsberg, O, Orenstein, N, Prescott, K, Childs, AM, Faivre, L, Moutton, S, Sullivan, JA, Shashi, V, Koudijs, SM, Heijligers, M, Kivuva, E, McTague, A, Male, A, van Ierland, Yvette, Plecko, B, Maystadt, I, Hamid, R, Hannig, VL, Houge, G, Janssens, V

المصدر: Lenaerts , L , Reynhout , S , Verbinnen , I , Laumonnier , F , Toutain , A , Bonnet-Brilhault , F , Hoorne , Y , Joss , S , Chassevent , AK , Smith-Hicks , C , Loeys , B , Joset , P , Steindl , K , Rauch , A , Mehta , SG , Chung , WK , DeVriendt , K , Holder , SE , Jewett , T , Baldwin , LM , Wilson , WG , Towner , S , Srivastava , S , Johnson , HF , Daumer-Haas , C ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

العلاقة: https://pure.eur.nl/en/publications/dd1771c1-6507-4ca0-99eb-40b3ea93e39eTest

الإتاحة: https://doi.org/10.1038/s41436-020-00981-2Test
https://pure.eur.nl/en/publications/dd1771c1-6507-4ca0-99eb-40b3ea93e39eTest
http://www.scopus.com/inward/record.url?scp=85093843292&partnerID=8YFLogxKTest
https://www.nature.com/articles/s41436-020-00981-2.pdfTest

المؤلفون: Richard, EM, Bakhtiari, S, Marsh, APL, Kaiyrzhanov, R, Wagner, M, Shetty, S, Pagnozzi, A, Nordlie, SM, Guida, BS, Cornejo, P, Magee, H, Liu, J, Norton, BY, Webster, R, Worgan, L, Hakonarson, H, Li, J, Guo, Y, Jain, M, Blesson, A, Rodan, LH, Abbott, M-A, Comi, A, Cohen, JS, Alhaddad, B, Meitinger, T, Lenz, D, Ziegler, A, Kotzaeridou, U, Brunet, T, Chassevent, A, Smith-Hicks, C, Ekstein, J, Weiden, T, Hahn, A, Zharkinbekova, N, Turnpenny, P, Tucci, A, Yelton, M, Horvath, R, Gungor, S, Hiz, S, Oktay, Y, Lochmuller, H, Zollino, M, Manuela, M, Marangi, G, Nigro, V, Torella, A, Pinelli, M, Amenta, S, Husain, RA, Grossmann, B, Rapp, M, Steen, C, Marquardt, I, Grimmel, M, Grasshoff, U, Korenke, GC, Owczarek-Lipska, M, Neidhardt, J, Radio, FC, Mancini, C, Sepulveda, DJC, Mc Walter, K, Begtrup, A, Crunk, A, Sacoto, MJG, Person, R, Schnur, RE, Mancardi, MM, Kreuder, F, Striano, P, Zara, F, Chung, WK, Marks, WA, van Eyk, CL, Webber, DL, Corbett, MA, Harper, K, Berry, JG, Mac Lennan, AH, Gecz, J, Tartaglia, M, Salpietro, V, Christodoulou, J, Kaslin, J, Padilla-Lopez, S, Bilguvar, K, Munchau, A, Ahmed, ZM, Hufnagel, RB, Fahey, MC, Maroofian, R, Houlden, H, Sticht, H, Mane, SM, LRad, A, Vona, B, Jin, SC, Haack, TB, Makowski, C, Hirsch, Y, Riazuddin, S, Kruer, MC

المصدر: American Journal of Human Genetics , 108 (10) pp. 2006-2016. (2021)

مصطلحات موضوعية: neurodevelopmental disorder, movement disorder, cerebral palsy, epilepsy, SPATA5L1, intellectual disability, AAA+ superfamily, ATPase, sensorineural hearing loss

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10139869Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10139869Test/

المؤلفون: Lenaerts, L, Reynhout, S, Verbinnen, I, Laumonnier, F, Toutain, A, Bonnet-Brilhault, F, Hoorne, Y, Joss, S, Chassevent, AK, Smith-Hicks, C, Loeys, B, Joset, P, Steindl, K, Rauch, A, Mehta, SG, Chung, WK, Devriendt, K, Holder, SE, Jewett, T, Baldwin, LM, Wilson, WG, Towner, S, Srivastava, S, Johnson, HF, Daumer-Haas, C, Baethmann, M, Ruiz, A, Gabau, E, Jain, V, Varghese, V, Al-Beshri, A, Fulton, S, Wechsberg, O, Orenstein, N, Prescott, K, Childs, A-M, Faivre, L, Moutton, S, Sullivan, JA, Shashi, V, Koudijs, SM, Heijligers, M, Kivuva, E, McTague, A, Male, A, van Ierland, Y, Plecko, B, Maystadt, I, Hamid, R, Hannig, VL, Houge, G, Janssens, V

المصدر: Genetics in Medicine (2020) (In press).

مصطلحات موضوعية: PPP2R1A, PP2A, intellectual disability, neurodevelopmental disorder, epilepsy

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10114644/1/s41436-020-00981-2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10114644Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10114644/1/s41436-020-00981-2.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10114644Test/

المؤلفون: Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., Rodan, L. H., Abbott, M. A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., McWalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., MacLennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S., Kruer, M. C.

مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities/genetics, Adolescent, Adult, Alleles, Animals, Cerebral Palsy/etiology/metabolism/*pathology, Child, Preschool, Epilepsy/etiology/metabolism/*pathology, Female, Genetic Predisposition to Disease, Genetic Variation, Hearing Loss/etiology/metabolism/*pathology, Humans, Infant, Newborn, Intellectual Disability/etiology/metabolism/*pathology, Male, Muscle Spasticity/etiology/metabolism/*pathology, Rats, Young Adult, AAA+ superfamily, ATPase, spata5l1, cerebral palsy, epilepsy, intellectual disability, movement disorder, neurodevelopmental disorder, sensorineural hearing loss

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(21)00302-5; Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi:10.1016/j.ajhg.2021.08.003.; https://rde.dspace-express.com/handle/11287/622267Test; American journal of human genetics; PMC8546233

الإتاحة: https://doi.org/10.1016/j.ajhg.2021.08.003Test
https://rde.dspace-express.com/handle/11287/622267Test

المؤلفون: Zagaglia S., Selch C., Nisevic J. R., Mei D., Michalak Z., Hernandez-Hernandez L., Krithika S., Vezyroglou K., Varadkar S. M., Pepler A., Biskup S., Leao M., Gartner J., Merkenschlager A., Jaksch M., Moller R. S., Gardella E., Kristiansen B. S., Hansen L. K., Vari M. S., Helbig K. L., Desai S., Smith-Hicks C. L., Hino-Fukuyo N., Talvik T., Laugesaar R., Ilves P., Ounap K., Korber I., Hartlieb T., Kudernatsch M., Winkler P., Schimmel M., Hasse A., Knuf M., Heinemeyer J., Makowski C., Ghedia S., Subramanian G. M., Striano P., Thomas R. H., Micallef C., Thom M., Werring D. J., Kluger G. J., Cross J. H., Guerrini R., Balestrini S., Sisodiya S. M.

المساهمون: Zagaglia, S., Selch, C., Nisevic, J. R., Mei, D., Michalak, Z., Hernandez-Hernandez, L., Krithika, S., Vezyroglou, K., Varadkar, S. M., Pepler, A., Biskup, S., Leao, M., Gartner, J., Merkenschlager, A., Jaksch, M., Moller, R. S., Gardella, E., Kristiansen, B. S., Hansen, L. K., Vari, M. S., Helbig, K. L., Desai, S., Smith-Hicks, C. L., Hino-Fukuyo, N., Talvik, T., Laugesaar, R., Ilves, P., Ounap, K., Korber, I., Hartlieb, T., Kudernatsch, M., Winkler, P., Schimmel, M., Hasse, A., Knuf, M., Heinemeyer, J., Makowski, C., Ghedia, S., Subramanian, G. M., Striano, P., Thomas, R. H., Micallef, C., Thom, M., Werring, D. J., Kluger, G. J., Cross, J. H., Guerrini, R., Balestrini, S., Sisodiya, S. M.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000452519500005; volume:91; firstpage:e2078; lastpage:e2088; numberofpages:17; journal:NEUROLOGY; http://hdl.handle.net/11567/1022057Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85057142501

الإتاحة: https://doi.org/10.1212/WNL.0000000000006567Test
http://hdl.handle.net/11567/1022057Test

المؤلفون: May, D., Bressler-Archambeau, C., Davuluri, S., Czerwinski, B., Smith-Hicks, C.

المصدر: Value in Health ; volume 26, issue 6, page S256 ; ISSN 1098-3015

مصطلحات موضوعية: Public Health, Environmental and Occupational Health, Health Policy

الإتاحة: https://doi.org/10.1016/j.jval.2023.03.2635Test
https://api.elsevier.com/content/article/PII:S1098301523028255?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098301523028255?httpAccept=text/plainTest

المؤلفون: May, D., Bressler-Archambeau, C., Davuluri, S., Czerwinski, B., Smith-Hicks, C.

المصدر: Value in Health ; volume 26, issue 6, page S18 ; ISSN 1098-3015

مصطلحات موضوعية: Public Health, Environmental and Occupational Health, Health Policy

الإتاحة: https://doi.org/10.1016/j.jval.2023.03.096Test
https://api.elsevier.com/content/article/PII:S1098301523001961?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098301523001961?httpAccept=text/plainTest

المؤلفون: Holt, RJ, Young, RM, Crespo, B, Ceroni, F, Curry, CJ, Bellacchio, E, Bax, DA, Ciolfi, A, Simon, M, Fagerberg, CR, van Binsbergen, E, De Luca, A, Memo, L, Dobyns, WB, Mohammed, AA, Clokie, SJH, Zazo Seco, C, Jiang, Y-H, Sørensen, KP, Andersen, H, Sullivan, J, Powis, Z, Chassevent, A, Smith-Hicks, C, Petrovski, S, Antoniadi, T, Shashi, V, Gelb, BD, Wilson, SW, Gerrelli, D, Tartaglia, M, Chassaing, N, Calvas, P, Ragge, NK

المصدر: AJHG , 105 (3) pp. 640-657. (2019)

مصطلحات موضوعية: FBXW11, Noonan syndrome, WD40, Wnt, brain, development, digit, eye, hedgehog, neurodevelopment

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10080239/1/mmc3.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10080239Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10080239/1/mmc3.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10080239Test/

المؤلفون: Weldon, M., Holder, J., Rumbaugh, G., Smith-Hicks, C., Boulanger, V., Seebald, A., Rossov, S., Milligan, K., Radtchenko, J.

المصدر: Value in Health ; volume 22, page S346 ; ISSN 1098-3015

مصطلحات موضوعية: Public Health, Environmental and Occupational Health, Health Policy

الإتاحة: https://doi.org/10.1016/j.jval.2019.04.1689Test
https://api.elsevier.com/content/article/PII:S1098301519318819?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098301519318819?httpAccept=text/plainTest

المؤلفون: Helman G., Zarekiani P., Tromp S. A. M., Andrews A., Botto L. D., Bonkowsky J. L., Chassevent A., Giorgio E., Pippucci T., Wei S., Smith-Hicks C., Vaula G., Willemsen M. A. A. P., Schimmel M., Vollert K., Shimizu F., Kanda T., Lynch M., Roscioli T., Taft R. J., Simons C., Bugiani M., Kuijpers T. W., van der Knaap M. S.

المساهمون: Helman, G., Zarekiani, P., Tromp, S. A. M., Andrews, A., Botto, L. D., Bonkowsky, J. L., Chassevent, A., Giorgio, E., Pippucci, T., Wei, S., Smith-Hicks, C., Vaula, G., Willemsen, M. A. A. P., Schimmel, M., Vollert, K., Shimizu, F., Kanda, T., Lynch, M., Roscioli, T., Taft, R. J., Simons, C., Bugiani, M., Kuijpers, T. W., van der Knaap, M. S.

مصطلحات موضوعية: Human, Receptor, Notch1, Chemokine CXCL10, Central Nervous System, Ectodermal Dysplasia, Leukoencephalopathies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35947102; info:eu-repo/semantics/altIdentifier/wos/WOS:000842330600001; volume:92; issue:5; firstpage:895; lastpage:901; numberofpages:7; journal:ANNALS OF NEUROLOGY; https://hdl.handle.net/11571/1466264Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137004917

الإتاحة: https://doi.org/10.1002/ana.26477Test
https://hdl.handle.net/11571/1466264Test