المؤلفون: Isaac, J., Mounts, E., Williamson Dean, L., Von Wald, T., Barbieri, E., Stein, Q., Flanagan, J.

المصدر: Fertility and Sterility ; volume 106, issue 3, page e85-e86 ; ISSN 0015-0282

مصطلحات موضوعية: Obstetrics and Gynecology, Reproductive Medicine

الإتاحة: https://doi.org/10.1016/j.fertnstert.2016.07.252Test
https://api.elsevier.com/content/article/PII:S0015028216616655?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0015028216616655?httpAccept=text/plainTest

المؤلفون: Snijders Blok, L., Madsen, E., Juusola, J., Gilissen, C., Baralle, D., Reijnders, M., Venselaar, H., Helsmoortel, C., Cho, M., Hoischen, A., Vissers, L., Koemans, T., Wissink-Lindhout, W., Eichler, E., Romano, C., Van Esch, H., Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K., van Bon, B., Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B., Van Dijck, A., Innes, A., Racher, H., Vermeer, S., Di Donato, N., Rump, A., Tatton-Brown, K., Parker, M., Henderson, A., Lynch, S., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Study, D., Dijkstra, S., Schieving, J., Giltay, J., van Gassen, K., Schuurs-Hoeijmakers, J., Tan, P., Pediaditakis, I., Haas, S., Retterer, K., Reed, P., Monaghan, K., Haverfield, E., Natowicz, M., Myers, A., Kruer, M., Stein, Q., Strauss, K., Brigatti, K., Keating, K., Burton, B., Kim, K., Charrow, J., Norman, J., Foster-Barber, A., Kline, A., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K., van Roozendaal, K., Brunner, H., Chung, W., Kooy, R., Pfundt, R., Kalscheuer, V., Mehta, S., Katsanis, N., Kleefstra, T.

المصدر: The American Journal of Human Genetics

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pissn/1537-6605 (Electronic)0002-9297 (Print); http://hdl.handle.net/11858/00-001M-0000-002A-35C1-2Test; http://hdl.handle.net/11858/00-001M-0000-002A-35C3-DTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2015.07.004Test
http://hdl.handle.net/11858/00-001M-0000-002A-35C1-2Test
http://hdl.handle.net/11858/00-001M-0000-002A-35C3-DTest

المؤلفون: Zarate, Y.A., Smith-Hicks, C.L., Greene, C., Abbott, M.-A., Siu, V.M., Calhoun, A.R.U.L., Pandya, A., Li, C., Sellars, E.A., Kaylor, J., Bosanko, K., Kalsner, L., Basinger, A., Slavotinek, A.M., Perry, H., Saenz, M., Szybowska, M., Wilson, L.C., Kumar, A., Brain, C., Balasubramanian, M., Dubbs, H., Ortiz-Gonzalez, X.R., Zackai, E., Stein, Q., Powell, C.M., Vergano, S.S., Britt, A., Sun, A., Smith, W., Bebin, E.M., Picker, J., Kirby, A., Pinz, H., Bombei, H., Mahida, S., Cohen, J.S., Fatemi, A., Vernon, H.J., McClellan, R., Fleming, L.R., Knyszek, B., Steinraths, M., Gonzalez, C.V., Beck, A.E., Golden-Grant, K.L., Egense, A., Parikh, A., Raimondi, C., Angle, B., Allen, W., Schott, S., Algrabli, A., Robin, N.H., Ray, J.W., Everman, D.B., Gambello, M.J., Chung, W.K.

العلاقة: Zarate, Y.A., Smith-Hicks, C.L., Greene, C. et al. (55 more authors) (2018) Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. American Journal of Medical Genetics Part A, 176 (4). pp. 925-935. ISSN 1552-4825

الإتاحة: https://doi.org/10.1002/ajmg.a.38630Test
https://eprints.whiterose.ac.uk/133117Test/

المؤلفون: Hamdan, FF, Myers, CT, Cossette, P, Lemay, P, Spiegelman, D, Laporte, AD, Nassif, C, Diallo, O, Monlong, J, Cadieux-Dion, M, Dobrzeniecka, S, Meloche, C, Retterer, K, Cho, MT, Rosenfeld, JA, Bi, W, Massicotte, C, Miguet, M, Brunga, L, Regan, BM, Mo, K, Tam, C, Schneider, A, Hollingsworth, G, FitzPatrick, DR, Donaldson, A, Canham, N, Blair, E, Kerr, B, Fry, AE, Thomas, RH, Shelagh, J, Hurst, JA, Brittain, H, Blyth, M, Lebel, RR, Gerkes, EH, Davis-Keppen, L, Stein, Q, Chung, WK, Dorison, SJ, Benke, PJ, Fassi, E, Corsten-Janssen, N, Kamsteeg, EJ, Mau-Them, FT, Bruel, AL, Verloes, A, A unap, K, Wojcik, MH, Albert, DVF, Venkateswaran, S, Ware, T, Dean Jones, Liu, YC, Mohammad, SS, Bizargity, P, Bacino, CA, Leuzzi, V, Martinelli, S, Dallapiccola, B, Tartaglia, M, Blumkin, L, Wierenga, KJ, Purcarin, G, O'Byrne, JJ, Stockler, S, Lehman, A, Keren, B, Nougues, MC, Mignot, C, Auvin, S, Nava, C, Hiatt, SM, Bebin, M, Shao, Y, Scaglia, F, Lalani, SR, Frye, RE, Jarjour, IT, Jacques, S, Boucher, RM, Riou, E, Srour, M, Carmant, L, Lortie, A, Major, P, Diadori, P, Dubeau, F, D'Anjou, G, Bourque, G, Berkovic, SF, Sadleir, LG, Campeau, PM, Kibar, Z, LafreniA re, RG, Girard, SL, Mercimek-Mahmutoglu, S, Boelman, C, Rouleau, GA

مصطلحات موضوعية: Neurology and neuromuscular diseases, CLTC, DHDDS, GABBR2, GABRB2, NTRK2, NUS1, RAB11, SNAP25, epileptic encephalopathy

العلاقة: 102.100.100/563406; https://figshare.com/articles/journal_contribution/High_Rate_of_Recurrent_De_Novo_Mutations_in_Developmental_and_Epileptic_Encephalopathies/22963247Test

الإتاحة: https://figshare.com/articles/journal_contribution/High_Rate_of_Recurrent_De_Novo_Mutations_in_Developmental_and_Epileptic_Encephalopathies/22963247Test

المؤلفون: Hamdan, F.F., Myers, C.T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A.D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., Dobrzeniecka, S., Meloche, C., Retterer, K., Cho, M.T., Rosenfeld, J.A., Bi, W., Massicotte, C., Miguet, M., Brunga, L., Regan, B.M., Mo, K., Tam, C., Schneider, A., Hollingsworth, G., FitzPatrick, D.R., Donaldson, A., Canham, N., Blair, E., Kerr, B., Fry, A.E., Thomas, R.H., Shelagh, J., Hurst, J.A., Brittain, H., Blyth, M., Lebel, R.R., Gerkes, E.H., Davis-Keppen, L., Stein, Q., Chung, W.K., Dorison, S.J., Benke, P.J., Fassi, E., Corsten-Janssen, N., Kamsteeg, E.J., Mau-Them, F.T., Bruel, A.L., Verloes, A., Ounap, K., Wojcik, M.H., Albert, D.V.F., Venkateswaran, S., Ware, T., Jones, D., Liu, Y.C., Mohammad, S.S., Bizargity, P., Bacino, C.A., Leuzzi, V., Martinelli, S., Dallapiccola, B., Tartaglia, M., Blumkin, L., Wierenga, K.J., Purcarin, G., O'Byrne, J.J., Stockler, S., Lehman, A., Keren, B., Nougues, M.C., Mignot, C., Auvin, S., Nava, C., Hiatt, S.M., Bebin, M., Shao, Y., Scaglia, F., Lalani, S.R., Frye, R.E., Jarjour, I.T., Jacques, S., Boucher, R.M., Riou, E., Srour, M., Carmant, L., Lortie, A., Major, P., Diadori, P., Dubeau, F., D'Anjou, G., Bourque, G., Berkovic, S.F., Sadleir, L.G., Campeau, P.M., Kibar, Z., Lafreniere, R.G., Girard, S.L., Mercimek-Mahmutoglu, S., Boelman, C., Rouleau, G.A.

المصدر: American Journal of Human Genetics, 101, 5, pp. 664-685

مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience

العلاقة: http://hdl.handle.net/2066/182558Test; https://doi.org/10.1016/j.ajhg.2017.09.008Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2017.09.008Test
http://hdl.handle.net/2066/182558Test

المؤلفون: Pedersen, Christina Bak, Bischoff, Claus, Christensen, E, Simonsen, H, Lund, A, Young, S.P., Koeberl, D.D., Millington, D, Roe, C, Roe, D, Keppen, L, Stein, Q, Knudsen, I, Gregersen, Niels, Andresen, Brage Storstein

المصدر: Pedersen , C B , Bischoff , C , Christensen , E , Simonsen , H , Lund , A , Young , S P , Koeberl , D D , Millington , D , Roe , C , Roe , D , Keppen , L , Stein , Q , Knudsen , I , Gregersen , N & Andresen , B S 2006 , ' Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. ' , Pediatric Research , vol. 60 , pp. 315-320 .

العلاقة: https://pure.au.dk/portal/da/publications/variations-in-ibd-acad8-in-children-with-elevated-c4carnitine-detected-by-tandem-mass-spectrometry-newborn-screeningTest(1adbb970-c637-11db-bee9-02004c4f4f50).html

الإتاحة: https://pure.au.dk/portal/da/publications/variations-in-ibd-acad8-in-children-with-elevated-c4carnitine-detected-by-tandem-mass-spectrometry-newborn-screeningTest(1adbb970-c637-11db-bee9-02004c4f4f50).html

المؤلفون: Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL

المصدر: American Journal of Human Genetics

وصف الملف: application/pdf

الإتاحة: https://eprint.ncl.ac.uk/fulltext.aspx?url=243549/741EC698-6812-495B-9CE8-E0DBB1CB58A9.pdf&pub_id=243549Test