المؤلفون: Kim Elsink, Manon M. H. Huibers, Iris H. I. M. Hollink, Annet Simons, Evelien Zonneveld-Huijssoon, Lars T. van der Veken, Helen L. Leavis, Stefanie S. V. Henriet, Marcel van Deuren, Frank L. van de Veerdonk, Judith Potjewijd, Dagmar Berghuis, Virgil A. S. H. Dalm, Clementien L. Vermont, Annick A. J. M. van de Ven, Annechien J. A. Lambeck, Kristin M. Abbott, P. Martin van Hagen, Godelieve J. de Bree, Taco W. Kuijpers, Geert W. J. Frederix, Mariëlle E. van Gijn, Joris M. van Montfrans, the Genetics First for Primary Immunodeficiency Disorders Consortium, Aerde van, KJ, Altenburg, J, Armbrust W, Barendregt, BH, Berg van den, JM, Bredius, RGM, Buddingh, EP, Burg van der, M, Ellerbroek, PM, Ernst, RF, Fraaij, PLA, Hermans, M, Hoischen, A, Hout van der, AH, Jansen, MHA, Jolink, H, Jonkers, RE, Laar van, JAM, Leeuw de, K, Legger, GE, Leijten, EFA, Limper, M, Lindemans, CA, Oever ten, J, Pieterse, M, Rombach, SM, Rossum van, AMC, Rutgers, A, Santen, GWE, Schölvinck, EH, Simon, A, Stol, K, Vervenne RML

المصدر: Frontiers in Immunology, Vol 12 (2021)

مصطلحات موضوعية: next-generation sequencing, inborn errors of immunity, diagnostic yield, gene panel, clinical implication, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2021.780134/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/1589a20c7b90482f8384cabc050aeb63

المؤلفون: Bosch, E, Popp, B, Güse, E, Skinner, C, van der Sluijs, PJ, Maystadt, I, Pinto, AM, Renieri, A, Bruno, LP, Granata, S, Marcelis, C, Baysal, Ö, Hartwich, D, Holthöfer, L, Isidor, B, Cogne, B, Wieczorek, D, Capra, V, Scala, M, De Marco, P, Ognibene, M, Jamra, RA, Platzer, K, Carter, LB, Kuismin, O, van Haeringen, A, Maroofian, R, Valenzuela, I, Cuscó, I, Martinez-Agosto, JA, Rabani, AM, Mefford, HC, Pereira, EM, Close, C, Anyane-Yeboa, K, Wagner, M, Hannibal, MC, Zacher, P, Thiffault, I, Beunders, G, Umair, M, Bhola, PT, McGinnis, E, Millichap, J, van de Kamp, JM, Prijoles, EJ, Dobson, A, Shillington, A, Graham, BH, Garcia, EJ, Galindo, MK, Ropers, FG, Nibbeling, EAR, Hubbard, G, Karimov, C, Goj, G, Bend, R, Rath, J, Morrow, MM, Millan, F, Salpietro, V, Torella, A, Nigro, V, Kurki, M, Stevenson, RE, Santen, GWE, Zweier, M, Campeau, PM, Severino, M, Reis, A, Accogli, A, Vasileiou, G

المصدر: Genetics in Medicine , 25 (11) , Article 100950. (2023) (In press).

مصطلحات موضوعية: BAF, BAFopathy, Coffin-Siris syndrome, NDD, Nicolaides-Baraitser syndrome, SMARCC2, neurodevelopmental disorder

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10181019/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10181019/

المؤلفون: Koopmann, TT, Jamshidi, Y, Naghibi-Sistani, M, van der Klift, HM, Birjandi, H, Al-Hassnan, Z, Alwadai, A, Zifarelli, G, Karimiani, EG, Sedighzadeh, S, Bahreini, A, Nouri, N, Peter, M, Watanabe, K, van Duyvenvoorde, HA, Ruivenkamp, CAL, Teunissen, AKK, Ten Harkel, ADJ, van Duinen, SG, Haak, MC, Prada, CE, Santen, GWE, Maroofian, R

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/114929/1/s41431-022-01204-9.pdf; Koopmann, TT; Jamshidi, Y; Naghibi-Sistani, M; van der Klift, HM; Birjandi, H; Al-Hassnan, Z; Alwadai, A; Zifarelli, G; Karimiani, EG; Sedighzadeh, S; et al. Koopmann, TT; Jamshidi, Y; Naghibi-Sistani, M; van der Klift, HM; Birjandi, H; Al-Hassnan, Z; Alwadai, A; Zifarelli, G; Karimiani, EG; Sedighzadeh, S; Bahreini, A; Nouri, N; Peter, M; Watanabe, K; van Duyvenvoorde, HA; Ruivenkamp, CAL; Teunissen, AKK; Ten Harkel, ADJ; van Duinen, SG; Haak, MC; Prada, CE; Santen, GWE; Maroofian, R (2023) Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy. Eur J Hum Genet, 31 (1). pp. 97-104. ISSN 1476-5438 https://doi.org/10.1038/s41431-022-01204-9 SGUL Authors: Jamshidi, Yalda

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/114929/
https://openaccess.sgul.ac.uk/id/eprint/114929/1/s41431-022-01204-9.pdf
https://doi.org/10.1038/s41431-022-01204-9

المؤلفون: Wang, TY, Hoekzema, K, Vecchio, D, Wu, HD, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, XB, Ou, JJ, Li, HH, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, BM, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Bernardina, BD, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, PF, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, Eichler, EE

المصدر: Nature communications. 11(1):5398

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145046061

المؤلفون: Wang, T, Hoekzema, K, Vecchio, D, Wu, HD, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, XB, Ou, JJ, Li, HH, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, BM, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Dalla Bernardina, B, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, PF, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, Eichler, EE

المصدر: Nature communications. 11(1):4932

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144901623

المؤلفون: Levy, MA, McConkey, H, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, MP, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, BR, Elting, MW, Faivre, L, Fee, T, Fletcher, RS, Cherik, F, Foroutan, A, Friez, MJ, Gervasini, C, Haghshenas, S, Hilton, BA, Jenkins, Z, Kaur, S, Lewis, S, Louie, RJ, Maitz, S, Milani, D, Morgan, AT, Oegema, R, Østergaard, E, Pallares, NR, Piccione, M, Pizzi, S, Plomp, AS, Poulton, C, Reilly, J, Relator, R, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, GWE, Santos-Simarro, F, Schijns, J, Squeo, GM, St John, M, Thauvin-Robinet, C, Traficante, G, van der Sluijs, PJ, Vergano, SA, Vos, N, Walden, KK, Azmanov, D, Balci, T, Banka, S, Gecz, J, Henneman, P, Lee, JA, Mannens, MMAM, Roscioli, T, Siu, V, Amor, DJ, Baynam, G, Bend, EG, Boycott, K, Brunetti-Pierri, N, Campeau, PM, Christodoulou, J, Dyment, D, Esber, N, Fahrner, JA, Fleming, MD, Genevieve, D, Kerrnohan, KD, McNeill, A, Menke, LA, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, SA, Stevenson, RE, Vitobello, A, Tartaglia, M, Alders, M, Tedder, ML, Sadikovic, B

المصدر: urn:ISSN:2666-2477 ; Human Genetics and Genomics Advances, 3, 1, 100075

مصطلحات موضوعية: Genetics, Brain Disorders, Biotechnology, Human Genome, Clinical Research, Genetic Testing, 2 Aetiology, 4 Detection, screening and diagnosis, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Generic health relevance, Clinical diagnostics, DNA methylation, Epigenetics, Episignatures, Neurodevelopmental disorders

وصف الملف: application/pdf

Relation: http://hdl.handle.net/1959.4/unsworks_78775; https://unsworks.unsw.edu.au/bitstreams/89d9f616-5d1d-48c9-bf65-5ec9d92e2243/download; https://unsworks.unsw.edu.au/bitstreams/dd07773a-6272-4e23-8592-b96422f494dd/download; https://doi.org/10.1016/j.xhgg.2021.100075

الاتاحة: http://hdl.handle.net/1959.4/unsworks_78775
https://unsworks.unsw.edu.au/bitstreams/89d9f616-5d1d-48c9-bf65-5ec9d92e2243/download
https://unsworks.unsw.edu.au/bitstreams/dd07773a-6272-4e23-8592-b96422f494dd/download
https://doi.org/10.1016/j.xhgg.2021.100075

المؤلفون: de Boer, E, Ockeloen, CW, Kampen, RA, Hampstead, JE, Dingemans, AJM, Rots, D, Lütje, L, Ashraf, T, Baker, R, Barat-Houari, M, Angle, B, Chatron, N, Denommé-Pichon, A-S, Devinsky, O, Dubourg, C, Elmslie, F, Elloumi, HZ, Faivre, L, Fitzgerald-Butt, S, Geneviève, D, Goos, JAC, Helm, BM, Kini, U, Lasa-Aranzasti, A, Lesca, G, Lynch, SA, Mathijssen, IMJ, McGowan, R, Monaghan, KG, Odent, S, Pfundt, R, Putoux, A, van Reeuwijk, J, Santen, GWE, Sasaki, E, Sorlin, A, van der Spek, PJ, Stegmann, APA, Swagemakers, SMA, Valenzuela, I, Viora-Dupont, E, Vitobello, A, Ware, SM, Wéber, M, Gilissen, C, Low, KJ, Fisher, SE, Vissers, LELM, Wong, MMK, Kleefstra, T

وصف الملف: application/pdf; application/zip; application/vnd.ms-excel

Relation: https://openaccess.sgul.ac.uk/id/eprint/115087/1/1-s2.0-S1098360022008164-main.pdf; https://openaccess.sgul.ac.uk/id/eprint/115087/6/1-s2.0-S1098360022008164-mmc1.zip; https://openaccess.sgul.ac.uk/id/eprint/115087/7/1-s2.0-S1098360022008164-mmc2.pdf; https://openaccess.sgul.ac.uk/id/eprint/115087/12/1-s2.0-S1098360022008164-mmc3.xlsx; https://openaccess.sgul.ac.uk/id/eprint/115087/13/1-s2.0-S1098360022008164-mmc4.xlsx; https://openaccess.sgul.ac.uk/id/eprint/115087/14/1-s2.0-S1098360022008164-mmc5.xlsx; https://openaccess.sgul.ac.uk/id/eprint/115087/15/1-s2.0-S1098360022008164-mmc6.xlsx; https://openaccess.sgul.ac.uk/id/eprint/115087/16/1-s2.0-S1098360022008164-mmc7.xlsx; https://openaccess.sgul.ac.uk/id/eprint/115087/17/1-s2.0-S1098360022008164-mmc8.xlsx; de Boer, E; Ockeloen, CW; Kampen, RA; Hampstead, JE; Dingemans, AJM; Rots, D; Lütje, L; Ashraf, T; Baker, R; Barat-Houari, M; et al. de Boer, E; Ockeloen, CW; Kampen, RA; Hampstead, JE; Dingemans, AJM; Rots, D; Lütje, L; Ashraf, T; Baker, R; Barat-Houari, M; Angle, B; Chatron, N; Denommé-Pichon, A-S; Devinsky, O; Dubourg, C; Elmslie, F; Elloumi, HZ; Faivre, L; Fitzgerald-Butt, S; Geneviève, D; Goos, JAC; Helm, BM; Kini, U; Lasa-Aranzasti, A; Lesca, G; Lynch, SA; Mathijssen, IMJ; McGowan, R; Monaghan, KG; Odent, S; Pfundt, R; Putoux, A; van Reeuwijk, J; Santen, GWE; Sasaki, E; Sorlin, A; van der Spek, PJ; Stegmann, APA; Swagemakers, SMA; Valenzuela, I; Viora-Dupont, E; Vitobello, A; Ware, SM; Wéber, M; Gilissen, C; Low, KJ; Fisher, SE; Vissers, LELM; Wong, MMK; Kleefstra, T (2022) Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein. Genet Med, 24 (10). pp. 2051-2064. ISSN 1530-0366 https://doi.org/10.1016/j.gim.2022.06.007 SGUL Authors: Elmslie, Frances

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/115087/
https://openaccess.sgul.ac.uk/id/eprint/115087/1/1-s2.0-S1098360022008164-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/115087/6/1-s2.0-S1098360022008164-mmc1.zip
https://openaccess.sgul.ac.uk/id/eprint/115087/7/1-s2.0-S1098360022008164-mmc2.pdf
https://openaccess.sgul.ac.uk/id/eprint/115087/12/1-s2.0-S1098360022008164-mmc3.xlsx
https://openaccess.sgul.ac.uk/id/eprint/115087/13/1-s2.0-S1098360022008164-mmc4.xlsx
https://openaccess.sgul.ac.uk/id/eprint/115087/14/1-s2.0-S1098360022008164-mmc5.xlsx
https://openaccess.sgul.ac.uk/id/eprint/115087/15/1-s2.0-S1098360022008164-mmc6.xlsx
https://openaccess.sgul.ac.uk/id/eprint/115087/16/1-s2.0-S1098360022008164-mmc7.xlsx
https://openaccess.sgul.ac.uk/id/eprint/115087/17/1-s2.0-S1098360022008164-mmc8.xlsx

المؤلفون: Geisheker, MR, Heymann, G, Wang, TY, Coe, BP, Turner, TN, Stessman, HAF, Hoekzema, K, Kvarnung, M, Shaw, M, Friend, K, Liebelt, J, Barnett, C, Thompson, EM, Haan, E, Guo, H, Anderlid, BM, Nordgren, A, Lindstrand, A, Vandeweyer, G, Alberti, A, Avola, E, Vinci, M, Giusto, S, Pramparo, T, Pierce, K, Nalabolu, S, Michaelson, JJ, Sedlacek, Z, Santen, GWE, Peeters, H, Hakonarson, H, Courchesne, E, Romano, C, Kooy, RF, Bernier, RA, Nordenskjold, M, Gecz, J, Xia, K, Zweifel, LS, Eichler, EE

المصدر: Nature neuroscience. 20(8):1043

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:136338058

المؤلفون: van der Sluijs, PJ, Jansen, S (Silke), Vergano, SA, Adachi-Fukuda, M, Alanay, Y, AlKindy, A, Kersseboom, Rogier, Verheijen - Mancini, Grazia, Clayton-Smith, J, Santen, GWE

المصدر: van der Sluijs , PJ , Jansen , S , Vergano , SA , Adachi-Fukuda , M , Alanay , Y , AlKindy , A , Kersseboom , R , Verheijen - Mancini , G , Clayton-Smith , J & Santen , GWE 2019 , ' The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome ' , Genetics in Medicine , vol. 21 , no. 6 , pp. 1295-1307 . https://doi.org/10.1038/s41436-018-0330-z

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

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/e948953a-6a32-42ea-8972-cdb29ed4ec6c
https://doi.org/10.1038/s41436-018-0330-z
https://pure.eur.nl/ws/files/48192686/Repub_111659_O-A.pdf
http://hdl.handle.net/1765/111659

المؤلفون: Reijnders, M R F, Miller, KA, Alvi, M, Goos, Jacqueline, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Baralle, D, Blair, EM, Engels, H, Ludecke, HJ, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, Marieke, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, Peter, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, Sigrid, Douzgou, S, Wall, SA, Kury, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, Irene, Nellaker, C, Brunner, HG, Wilkie, AOM

المصدر: Reijnders , M R F , Miller , KA , Alvi , M , Goos , J , Lees , MM , de Burca , A , Henderson , A , Kraus , A , Mikat , B , de Vries , BBA , Isidor , B , Kerr , B , Marcelis , C , Schluth-Bolard , C , Deshpande , C , Ruivenkamp , CAL , Wieczorek , D , Baralle , D , Blair , EM , Engels , H , Ludecke , HJ , Eason , J , Santen , GWE , Clayton-Smith , J ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES015001A, name=EMC NIHES-01-50-01-A

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/aab3cd86-64af-4318-91ef-24d126e30d2c
https://doi.org/10.1016/j.ajhg.2018.04.014
https://pure.eur.nl/ws/files/47922857/REPUB_107127_OA.pdf
http://hdl.handle.net/1765/107127

المؤلفون: Reijnders, MRF, Miller, KA, Alvi, M, Goos, JAC, Lees, MM, de Burca, A, Henderson, A, Kraus, A, Mikat, B, de Vries, BBA, Isidor, B, Kerr, B, Marcelis, C, Schluth-Bolard, C, Deshpande, C, Ruivenkamp, CAL, Wieczorek, D, Deciphering Developmental Disorders Study, Baralle, D, Blair, EM, Engels, H, Lüdecke, H-J, Eason, J, Santen, GWE, Clayton-Smith, J, Chandler, K, Tatton-Brown, K, Payne, K, Helbig, K, Radtke, K, Nugent, KM, Cremer, K, Strom, TM, Bird, LM, Sinnema, M, Bitner-Glindzicz, M, van Dooren, MF, Alders, M, Koopmans, M, Brick, L, Kozenko, M, Harline, ML, Klaassens, M, Steinraths, M, Cooper, NS, Edery, P, Yap, P, Terhal, PA, van der Spek, PJ, Lakeman, P, Taylor, RL, Littlejohn, RO, Pfundt, R, Mercimek-Andrews, S, Stegmann, APA, Kant, SG, McLean, S, Joss, S, Swagemakers, SMA, Douzgou, S, Wall, SA, Küry, S, Calpena, E, Koelling, N, McGowan, SJ, Twigg, SRF, Mathijssen, IMJ, Nellaker, C, Brunner, HG, Wilkie, AOM

وصف الملف: application/pdf

Relation: https://openaccess.sgul.ac.uk/id/eprint/109920/1/1-s2.0-S0002929718301617-main.pdf; Reijnders, MRF; Miller, KA; Alvi, M; Goos, JAC; Lees, MM; de Burca, A; Henderson, A; Kraus, A; Mikat, B; de Vries, BBA; et al. Reijnders, MRF; Miller, KA; Alvi, M; Goos, JAC; Lees, MM; de Burca, A; Henderson, A; Kraus, A; Mikat, B; de Vries, BBA; Isidor, B; Kerr, B; Marcelis, C; Schluth-Bolard, C; Deshpande, C; Ruivenkamp, CAL; Wieczorek, D; Deciphering Developmental Disorders Study; Baralle, D; Blair, EM; Engels, H; Lüdecke, H-J; Eason, J; Santen, GWE; Clayton-Smith, J; Chandler, K; Tatton-Brown, K; Payne, K; Helbig, K; Radtke, K; Nugent, KM; Cremer, K; Strom, TM; Bird, LM; Sinnema, M; Bitner-Glindzicz, M; van Dooren, MF; Alders, M; Koopmans, M; Brick, L; Kozenko, M; Harline, ML; Klaassens, M; Steinraths, M; Cooper, NS; Edery, P; Yap, P; Terhal, PA; van der Spek, PJ; Lakeman, P; Taylor, RL; Littlejohn, RO; Pfundt, R; Mercimek-Andrews, S; Stegmann, APA; Kant, SG; McLean, S; Joss, S; Swagemakers, SMA; Douzgou, S; Wall, SA; Küry, S; Calpena, E; Koelling, N; McGowan, SJ; Twigg, SRF; Mathijssen, IMJ; Nellaker, C; Brunner, HG; Wilkie, AOM (2018) De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder. Am J Hum Genet, 102 (6). pp. 1195-1203. ISSN 1537-6605 https://doi.org/10.1016/j.ajhg.2018.04.014 SGUL Authors: Tatton-Brown, Katrina Louise

الاتاحة: https://openaccess.sgul.ac.uk/id/eprint/109920/
https://openaccess.sgul.ac.uk/id/eprint/109920/1/1-s2.0-S0002929718301617-main.pdf

المؤلفون: Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, HHM, White, SJ, Santen, GWE, Lopes, SMCDS, Heijmans, BT, Van Meurs, J, Jansen, R, Franke, L, Kielbasa, SM, Den Dunnen, JT, 't Hoen, PAC, Boomsma, DI, Pool, R, Van Dongen, J, Hottenga, JJ, Van Greevenbroek, MMJ, Da Stehouwer, C, Van der Kallen, CJH, Schalkwijk, CG, Wijmenga, C, Zhernakova, S, Tigchelaar, EF, Slagboom, PE, Beekman, M, Deelen, J, Van Heemst, D, Veldink, JH, Van den Berg, LH, Van Duijn, CM, Hofman, BA, Uitterlinden, AG, Jhamai, PM, Verbiest, M, Suchiman, HED, Verkerk, M, Van der Breggen, R, Van Rooij, J, Lakenberg, N, Mei, H, Bot, J, Zhernakova, DV, 't Hof, PV, Deelen, P, Nooren, I, Moed, M, Vermaat, M, Luijk, R, Bonder, MJ, Van Iterson, M, Van Dijk, F, Van Galen, M, Arindrarto, W, Swertz, MA, Van Zwet, EW, Isaacs, A, Francioli, LC, Menelaou, A, Pulit, SL, Palamara, PF, Elbers, CC, Neerincx, PB, Ye, K, Guryev, V, Kloosterman, WP, Abdellaoui, A, Van Leeuwen, EM, Van Oven, M, Li, M, Laros, JF, Karssen, LC, Kanterakis, A, Amin, N, Lameijer, EW, Kattenberg, M, Dijkstra, M, Byelas, H, Van Setten, J, Van Schaik, BD, Nijman, IJ, Renkens, I, Marschall, T, Schonhuth, A, Hehir-Kwa, JY, Handsaker, RE, Polak, P, Sohail, M, Vuzman, D, Hormozdiari, F, Van Enckevort, D, Koval, V, Moed, MH, Van der Velde, KJ, Rivadeneira, F, Estrada, K, Medina-Gomez, C, McCarroll, SA, De Craen, AJ, Suchiman, HE, Oostra, B, Willemsen, G, Platteel, M, Pitts, SJ, Potluri, S, Sundar, P, Cox, DR, Sunyaev, SR, Stoneking, M, De Knijff, P, Kayser, M, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, JA, Pe'er, I, Van Ommen, GJ, De Bakker, PI

المصدر: 465 ; 455

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Biochemistry & Molecular Biology, Genetics & Heredity, DUCHENNE MUSCULAR-DYSTROPHY, CHROMOSOME-INACTIVATION, DMD LOCUS, EXPRESSION, PATTERNS, TRANSLOCATION, ADRENOLEUKODYSTROPHY, CARRIERS, CONSEQUENCES, VARIABILITY, Calcium-Binding Proteins, Female, Humans, Intracellular Signaling Peptides and Proteins, Male, Membrane Glycoproteins, Netherlands, Polymorphism, Single Nucleotide, Population, Receptors, Cytoplasmic and Nuclear, Peptide, Septins, X Chromosome Inactivation, BIOS consortium

Relation: European Journal of Human Genetics; http://hdl.handle.net/10044/1/75694

الاتاحة: http://hdl.handle.net/10044/1/75694
https://doi.org/10.1038/s41431-018-0291-3

المؤلفون: Levy MA, Relator R, McConkey H, Pranckeviciene E, Kerkhof J, Barat-Houari M, Bargiacchi S, Biamino E, Palomares Bralo M, Cappuccio G, Ciolfi A, Clarke A, DuPont BR, Elting MW, Faivre L, Fee T, Ferilli M, Fletcher RS, Cherick F, Foroutan A, Friez MJ, Gervasini C, Haghshenas S, Hilton BA, Jenkins Z, Kaur S, Lewis S, Louie RJ, Maitz S, Milani D, Morgan AT, Oegema R, Østergaard E, Pallares NR, Piccione M, Plomp AS, Poulton C, Reilly J, Rius R, Robertson S, Rooney K, Rousseau J, Santen GWE, Santos-Simarro F, Schijns J, Squeo GM, John MS, Thauvin-Robinet C, Traficante G, van der Sluijs PJ, Vergano SA, Vos N, Walden KK, Azmanov D, Balci TB, Banka S, Gecz J, Henneman P, Lee JA, Mannens MMAM, Roscioli T, Siu V, Amor DJ, Baynam G, Bend EG, Boycott K, Brunetti-Pierri N, Campeau PM, Campion D, Christodoulou J, Dyment D, Esber N, Fahrner JA, Fleming MD, Genevieve D, Heron D, Husson T, Kernohan KD, McNeill A, Menke LA, Merla G, Prontera P, Rockman-Greenberg C, Schwartz C, Skinner SA, Stevenson RE, Vincent M, Vitobello A, Tartaglia M, Alders M, Tedder ML, Sadikovic B.

المساهمون: M. Levy, R. Relator, H. Mcconkey, E. Pranckeviciene, J. Kerkhof, M. Barat-Houari, S. Bargiacchi, E. Biamino, M. Palomares Bralo, G. Cappuccio, A. Ciolfi, A. Clarke, B. Dupont, M. Elting, L. Faivre, T. Fee, M. Ferilli, R. Fletcher, F. Cherick, A. Foroutan, M. Friez, C. Gervasini, S. Haghshena, B. Hilton, Z. Jenkin, S. Kaur, S. Lewi, R. Louie, S. Maitz, D. Milani, A. Morgan, R. Oegema, E. Østergaard, N. Pallare, M. Piccione, A. Plomp, C. Poulton, J. Reilly, R. Riu, S. Robertson, K. Rooney, J. Rousseau, G. Santen, F. Santos-Simarro, J. Schijn, G. Squeo, M. John, C. Thauvin-Robinet, G. Traficante, P. van der Sluij, S. Vergano, N. Vo, K. Walden, D. Azmanov, T. Balci, S. Banka, J. Gecz, P. Henneman, J. Lee, M. Mannen, T. Roscioli, V. Siu, D. Amor, G. Baynam, E. Bend, K. Boycott, N. Brunetti-Pierri, P. Campeau, D. Campion, J. Christodoulou, D. Dyment, N. Esber, J. Fahrner, M. Fleming, D. Genevieve, D. Heron, T. Husson, K. Kernohan, A. Mcneill, L. Menke, G. Merla, P. Prontera, C. Rockman-Greenberg, C. Schwartz, S. Skinner, R. Stevenson, M. Vincent, A. Vitobello, M. Tartaglia, M. Alder, M. Tedder, B. Sadikovic

مصطلحات موضوعية: DNA methylation, clinical diagnostic, episignature, neurodevelopmental syndrome, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/35904121; info:eu-repo/semantics/altIdentifier/wos/WOS:000842416800001; volume:43; issue:11; firstpage:1609; lastpage:1628; numberofpages:20; journal:HUMAN MUTATION; https://hdl.handle.net/2434/991312; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136511967

الاتاحة: https://hdl.handle.net/2434/991312
https://doi.org/10.1002/humu.24446

المؤلفون: Heinen, CA, Losekoot, M, Sun, Y, Watson, P J, Fairall, L, Joustra, SD, Zwaveling-Soonawala, N, Oostdijk, W (Wilma), van den Akker, Erica, Alders, M, Santen, GWE, van Rijn, RR, Dreschler, WA, Surovtseva, O V, Biermasz, NR, Hennekam, RC, Wit, JM, Schwabe, J W R, Boelen, A, Fliers, E, van Trotsenburg, ASP

المصدر: Heinen , CA , Losekoot , M , Sun , Y , Watson , P J , Fairall , L , Joustra , SD , Zwaveling-Soonawala , N , Oostdijk , W , van den Akker , E , Alders , M , Santen , GWE , van Rijn , RR , Dreschler , WA , Surovtseva , O V , Biermasz , NR , Hennekam , RC , Wit , JM , Schwabe , J W R , Boelen , A , Fliers , E & van Trotsenburg , ASP 2016 , ' Mutations in TBL1X Are Associated ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM015401, name=EMC MM-01-54-01

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/a2c1baa2-e11c-4cf8-9596-610458d5ecbb
https://doi.org/10.1210/jc.2016-2531
https://pure.eur.nl/ws/files/47714691/REPUB_94856_OA.pdf
http://hdl.handle.net/1765/94856

المؤلفون: oostdijk, W, Idkowiak, J, Mueller, JW, House, PJ, Taylor, AE, O'Reilly, MW, Hughes, BA, de Vries, MC, Kant, SG, Santen, GWE, Verkerk, Annemieke, Uitterlinden, André, Wit, JM, Losekoot, M, Arlt, W

المصدر: oostdijk , W , Idkowiak , J , Mueller , JW , House , PJ , Taylor , AE , O'Reilly , MW , Hughes , BA , de Vries , MC , Kant , SG , Santen , GWE , Verkerk , A , Uitterlinden , A , Wit , JM , Losekoot , M & Arlt , W 2015 , ' PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation-In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations ' , Journal of Clinical Endocrinology and Metabolism , vol. 100 , no. 4 ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM013909A, name=EMC MM-01-39-09-A

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/6e6b8b36-0d66-4c1c-ae24-1d56723f2d00
https://doi.org/10.1210/jc.2014-3556
https://pure.eur.nl/ws/files/47612116/Repub_88527_O-A.pdf

المؤلفون: Tolchin, D, Yeager, JP, Prasad, P, Dorrani, N, Russi, AS, Martinez-Agosto, JA, Haseeb, A, Angelozzi, M, Santen, GWE, Ruivenkamp, C, Mercimek-Andrews, S, Depienne, C, Kuechler, A, Mikat, B, Ludecke, H-J, Bilan, F, Le Guyader, G, Gilbert-Dussardier, B, Keren, B, Heide, S, Haye, D, Van Esch, H, Keldermans, L, Ortiz, D, Lancaster, E, Krantz, ID, Krock, BL, Pechter, KB, Arkader, A, Medne, L, DeChene, ET, Calpena, E, Melistaccio, G, Wilkie, AOM, Suri, M, Foulds, N, Genomics England Research Consortium, Begtrup, A, Henderson, LB, Forster, C, Reed, P, McDonald, MT, McConkie-Rosell, A, Thevenon, J, Le Tanno, P, Coutton, C, Tsai, ACH, Stewart, S, Maver, A, Gorazd, R, Pichon, O, Nizon, M, Cogné, B, Isidor, B, Martin-Coignard, D, Stoeva, R, Lefebvre, V, Le Caignec, C

مصطلحات موضوعية: ADHD, SOX6, SOXopathy, craniosynostosis, developmental delay, dysmorphism, genetic variant, human disease, intellectual disability, osteochondroma, Active Transport, Cell Nucleus, Adolescent, Amino Acid Sequence, Attention Deficit Disorder with Hyperactivity, Base Sequence, Brain, Child, Preschool, Computer Simulation, Craniosynostoses, Female, Genomic Structural Variation, Humans, Infant, Male, Mutation, Missense, Neurodevelopmental Disorders, RNA-Seq

وصف الملف: 830 - 845

Relation: Am J Hum Genet; https://qmro.qmul.ac.uk/xmlui/handle/123456789/66405

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/66405
https://doi.org/10.1016/j.ajhg.2020.04.015

المؤلفون: van Dijk FS, Semler O, Etich J, Kohler A, Jimenez-Estrada JA, Bravenboer N, Claeys L, Riesebos E, Gegic S, Piersma SR, Jimenez CR, Waisfisz Q, Flores C-L, Nevado J, Harsevoort AJ, Janus GJM, Franken AAM, van der Sar AM, Meijers-Heijboer H, Heath KE, Lapunzina P, Nikkels PGJ, Santen GWE, Nuchel J, Plomann M, Wagener R, Rehberg M, Hoyer-Kuhn H, Eekhoff EMW, Pals G, Morgelin M, Newstead S, Wilson BT, Ruiz-Perez VL, Maugeri A, Netzer C, Zaucke F, Micha D

المصدر: American Journal of Human Genetics, 5 November 2020

Relation: https://eprints.ncl.ac.uk/271370

الاتاحة: https://eprints.ncl.ac.uk/271370

المؤلفون: Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, BM, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Bernardina, BD, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedláček, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Acampado, J, Ace, AJ, Amatya, A, Astrovskaya, I, Bashar, A, Brooks, E, Butler, ME, Cartner, LA, Chin, W, Chung, WK, Daniels, AM, Feliciano, P, Fleisch, C, Ganesan, S, Jensen, W, Lash, AE, Marini, R, Myers, VJ, O’Connor, E, Rigby, C, Robertson, BE, Shah, N, Shah, S, Singer, E, Snyder, LAG, Stephens, AN, Tjernagel, J, Vernoia, BM, Volfovsky, N, White, LC, Hsieh, A, Shen, Y, Zhou, X, Turner, TN, Bahl, E, Thomas, TR

مصطلحات الفهرس: text, Journal Article, Erratum, Journal

URL: http://handle.unsw.edu.au/1959.4/unsworks_75281
https://orcid.org/0000-0003-1844-215X
https://orcid.org/0000-0003-1844-215X
Nature Communications, 11, 1

المؤلفون: Wang, T, Hoekzema, K, Vecchio, D, Wu, H, Sulovari, A, Coe, BP, Gillentine, MA, Wilfert, AB, Perez-Jurado, LA, Kvarnung, M, Sleyp, Y, Earl, RK, Rosenfeld, JA, Geisheker, MR, Han, L, Du, B, Barnett, C, Thompson, E, Shaw, M, Carroll, R, Friend, K, Catford, R, Palmer, EE, Zou, X, Ou, J, Li, H, Guo, H, Gerdts, J, Avola, E, Calabrese, G, Elia, M, Greco, D, Lindstrand, A, Nordgren, A, Anderlid, B-M, Vandeweyer, G, Van Dijck, A, Van der Aa, N, McKenna, B, Hancarova, M, Bendova, S, Havlovicova, M, Malerba, G, Bernardina, BD, Muglia, P, van Haeringen, A, Hoffer, MJV, Franke, B, Cappuccio, G, Delatycki, M, Lockhart, PJ, Manning, MA, Liu, P, Scheffer, IE, Brunetti-Pierri, N, Rommelse, N, Amaral, DG, Santen, GWE, Trabetti, E, Sedlacek, Z, Michaelson, JJ, Pierce, K, Courchesne, E, Kooy, RF, Nordenskjold, M, Romano, C, Peeters, H, Bernier, RA, Gecz, J, Xia, K, Eichler, EE

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/251729

المؤلفون: van der Sluijs, PJ, Aten, E, Barge-Schaapveld, D, Bijlsma, EK, Bokenkamp-Gramann, R, Donker Kaat, Laura, van Doorn, R, van de Putte, DF, van Haeringen, A, ten Harkel, ADJ (Arend), Hilhorst-Hofstee, Y, Hoffer, MJV, den Hollander, NS, Ierland, Y, Koopmans, M, Kriek, M, Moghadasi, S, Nibbeling, EAR, Peeters-Scholte, C, Potjer, TP, van Rij, M, Ruivenkamp, CAL, Rutten, JW, Steggerda, SJ, Suerink, M, Tan, R, van der Tuin, K, Visser, R, van der Werf-'t Lam, AS, Williams, Monique, Witlox, R, Santen, GWE

المصدر: van der Sluijs , PJ , Aten , E , Barge-Schaapveld , D , Bijlsma , EK , Bokenkamp-Gramann , R , Donker Kaat , L , van Doorn , R , van de Putte , DF , van Haeringen , A , ten Harkel , ADJ , Hilhorst-Hofstee , Y , Hoffer , MJV , den Hollander , NS , Ierland , Y , Koopmans , M , Kriek , M , Moghadasi , S , Nibbeling , EAR , Peeters-Scholte , C , Potjer , TP , van Rij , M , Ruivenkamp , CAL , Rutten ....

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

الاتاحة: https://pure.eur.nl/en/publications/a246e11d-eabf-424d-a1cc-0374b27c3d0b
https://doi.org/10.1038/s41436-018-0293-0
http://hdl.handle.net/1765/110952