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

العلاقة: http://hdl.handle.net/1959.4/unsworks_78775Test; https://unsworks.unsw.edu.au/bitstreams/89d9f616-5d1d-48c9-bf65-5ec9d92e2243/downloadTest; https://unsworks.unsw.edu.au/bitstreams/dd07773a-6272-4e23-8592-b96422f494dd/downloadTest; https://doi.org/10.1016/j.xhgg.2021.100075Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2021.100075Test
http://hdl.handle.net/1959.4/unsworks_78775Test
https://unsworks.unsw.edu.au/bitstreams/89d9f616-5d1d-48c9-bf65-5ec9d92e2243/downloadTest
https://unsworks.unsw.edu.au/bitstreams/dd07773a-6272-4e23-8592-b96422f494dd/downloadTest

المؤلفون: Tessadori, F, Duran, K, Knapp, K, Fellner, M, Smithson, S, Beleza Meireles, A, Elting, MW, Waisfisz, Q, O'Donnell-Luria, A, Nowak, C, Douglas, J, Ronan, A, Brunet, T, Kotzaeridou, U, Svihovec, S, Saenz, MS, Thiffault, I, Del Viso, F, Devine, P, Rego, S, Tenney, J, van Haeringen, A, Ruivenkamp, CAL, Koene, S, Robertson, SP, Deshpande, C, Pfundt, R, Verbeek, N, van de Kamp, JM, Weiss, JMM, Ruiz, A, Gabau, E, Banne, E, Pepler, A, Bottani, A, Laurent, S, Guipponi, M, Bijlsma, E, Bruel, A-L, Sorlin, A, Willis, M, Powis, Z, Smol, T, Vincent-Delorme, C, Baralle, D, Colin, E, Revencu, N, Calpena, E, Wilkie, AOM

المساهمون: Study, Deciphering Developmental Disorders

العلاقة: https://ora.ox.ac.uk/objects/uuid:d036a687-fbe7-4c19-9230-f364f97a7cefTest; https://doi.org/10.1016/j.ajhg.2022.02.003Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.02.003Test
https://ora.ox.ac.uk/objects/uuid:d036a687-fbe7-4c19-9230-f364f97a7cefTest

المؤلفون: Dumont, Sophie, Elting, MW, Hueschen, CL, Udy, DB

الوصول الحر: https://escholarship.org/uc/item/44h1x30hTest

المؤلفون: Weerts, MJA, Lanko, K, Guzmán-Vega, FJ, Jackson, A, Ramakrishnan, R, Cardona-Londoño, KJ, Peña-Guerra, KA, van Bever, Y, van Paassen, BW, Kievit, A, van Slegtenhorst, M, Allen, NM, Kehoe, CM, Robinson, HK, Pang, L, Banu, SH, Zaman, M, Efthymiou, S, Houlden, H, Järvelä, I, Lauronen, L, Määttä, T, Schrauwen, I, Leal, SM, Ruivenkamp, CAL, Barge-Schaapveld, DQCM, Peeters-Scholte, CMPCD, Galehdari, H, Mazaheri, N, Sisodiya, SM, Harrison, V, Sun, A, Thies, J, Pedroza, LA, Lara-Taranchenko, Y, Chinn, IK, Lupski, JR, Garza-Flores, A, McGlothlin, J, Yang, L, Huang, S, Wang, X, Jewett, T, Rosso, G, Lin, X, Mohammed, S, Merritt, JL, Mirzaa, GM, Timms, AE, Scheck, J, Elting, MW, Polstra, AM, Schenck, L, Ruzhnikov, MRZ, Vetro, A, Montomoli, M, Guerrini, R, Koboldt, DC, Mosher, TM, Pastore, MT, McBride, KL, Peng, J, Pan, Z, Willemsen, M, Koning, S, Turnpenny, PD, de Vries, BBA, Gilissen, C, Pfundt, R, Lees, M, Braddock, SR, Klemp, KC, Vansenne, F, van Gijn, ME, Quindipan, C, Deardorff, MA, Hamm, JA, Putnam, AM, Baud, R, Walsh, L, Lynch, SA, Baptista, J, Person, RE, Monaghan, KG, Crunk, A, Keller-Ramey, J, Reich, A, Elloumi, HZ, Alders, M, Kerkhof, J, McConkey, H, Haghshenas, S, Genomics England Research Consortium, Maroofian, R, Sadikovic, B, Banka, S, Arold, ST, Barakat, TS

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

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/114578/1/1-s2.0-S1098360021051728-main.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114578/6/1-s2.0-S1098360021051728-mmc1.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114578/11/1-s2.0-S1098360021051728-mmc2.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/114578/12/1-s2.0-S1098360021051728-mmc3.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/114578/17/1-s2.0-S1098360021051728-mmc4.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/114578/18/1-s2.0-S1098360021051728-mmc5.xlsxTest; Weerts, MJA; Lanko, K; Guzmán-Vega, FJ; Jackson, A; Ramakrishnan, R; Cardona-Londoño, KJ; Peña-Guerra, KA; van Bever, Y; van Paassen, BW; Kievit, A; et al. Weerts, MJA; Lanko, K; Guzmán-Vega, FJ; Jackson, A; Ramakrishnan, R; Cardona-Londoño, KJ; Peña-Guerra, KA; van Bever, Y; van Paassen, BW; Kievit, A; van Slegtenhorst, M; Allen, NM; Kehoe, CM; Robinson, HK; Pang, L; Banu, SH; Zaman, M; Efthymiou, S; Houlden, H; Järvelä, I; Lauronen, L; Määttä, T; Schrauwen, I; Leal, SM; Ruivenkamp, CAL; Barge-Schaapveld, DQCM; Peeters-Scholte, CMPCD; Galehdari, H; Mazaheri, N; Sisodiya, SM; Harrison, V; Sun, A; Thies, J; Pedroza, LA; Lara-Taranchenko, Y; Chinn, IK; Lupski, JR; Garza-Flores, A; McGlothlin, J; Yang, L; Huang, S; Wang, X; Jewett, T; Rosso, G; Lin, X; Mohammed, S; Merritt, JL; Mirzaa, GM; Timms, AE; Scheck, J; Elting, MW; Polstra, AM; Schenck, L; Ruzhnikov, MRZ; Vetro, A; Montomoli, M; Guerrini, R; Koboldt, DC; Mosher, TM; Pastore, MT; McBride, KL; Peng, J; Pan, Z; Willemsen, M; Koning, S; Turnpenny, PD; de Vries, BBA; Gilissen, C; Pfundt, R; Lees, M; Braddock, SR; Klemp, KC; Vansenne, F; van Gijn, ME; Quindipan, C; Deardorff, MA; Hamm, JA; Putnam, AM; Baud, R; Walsh, L; Lynch, SA; Baptista, J; Person, RE; Monaghan, KG; Crunk, A; Keller-Ramey, J; Reich, A; Elloumi, HZ; Alders, M; Kerkhof, J; McConkey, H; Haghshenas, S; Genomics England Research Consortium; Maroofian, R; Sadikovic, B; Banka, S; Arold, ST; Barakat, TS (2021) Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome. Genet Med, 23 (11). pp. 2122-2137. ISSN 1530-0366 https://doi.org/10.1038/s41436-021-01246-2Test SGUL Authors: Maroofian, Reza

الإتاحة: https://doi.org/10.1038/s41436-021-01246-2Test
https://openaccess.sgul.ac.uk/id/eprint/114578Test/
https://openaccess.sgul.ac.uk/id/eprint/114578/1/1-s2.0-S1098360021051728-main.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114578/6/1-s2.0-S1098360021051728-mmc1.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114578/11/1-s2.0-S1098360021051728-mmc2.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/114578/12/1-s2.0-S1098360021051728-mmc3.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/114578/17/1-s2.0-S1098360021051728-mmc4.xlsxTest
https://openaccess.sgul.ac.uk/id/eprint/114578/18/1-s2.0-S1098360021051728-mmc5.xlsxTest

المؤلفون: Deden, C, Neveling, K, Zafeiropopoulou, D, Gilissen, C, Pfundt, R, Rinne, T, de Leeuw, N, Faas, B, Gardeitchik, T, Sallevelt, SCEH, Paulussen, A, Stevens, SJC, Sikkel, E, Elting, MW, van Maarle, MC, Diderich, Karin, Corsten-Janssen, N, Lichtenbelt, KD, Lachmeijer, G, Vissers, LELM, Yntema, HG, Nelen, M, Feenstra, I, van Zelst-Stams, W A G

المصدر: Deden , C , Neveling , K , Zafeiropopoulou , D , Gilissen , C , Pfundt , R , Rinne , T , de Leeuw , N , Faas , B , Gardeitchik , T , Sallevelt , SCEH , Paulussen , A , Stevens , SJC , Sikkel , E , Elting , MW , van Maarle , MC , Diderich , K , Corsten-Janssen , N , Lichtenbelt , KD , Lachmeijer , G , Vissers , LELM , Yntema , HG , Nelen , M , Feenstra , I & van Zelst-Stams , W A ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/pd.5717Test
https://pure.eur.nl/en/publications/4ea4f045-1b3a-4bda-8423-78e47ffbcb62Test
https://pure.eur.nl/ws/files/48365194/Repub_127317_O-A.pdfTest

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

العلاقة: 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/2434/991312Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136511967

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

المؤلفون: Madeo, M, Stewart, M, Sun, Y, Sahir, N, Wiethoff, S, Chandrasekar, I, Yarrow, A, Rosenfeld, JA, Yang, Y, Cordeiro, D, McCormick, EM, Muraresku, CC, Jepperson, TN, McBeth, LJ, Seidahmed, MZ, El Khashab, HY, Hamad, M, Azzedine, H, Clark, K, Corrochano, S, Wells, S, Elting, MW, Weiss, MM, Burn, S, Myers, A, Landsverk, M, Crotwell, PL, Waisfisz, Q, Wolf, NI, Nolan, PM, Padilla-Lopez, S, Houlden, H, Lifton, R, Mane, S, Singh, BB, Falk, MJ, Mercimek-Mahmutoglu, S, Bilguvar, K, Salih, MA, Acevedo-Arozena, A, Kruer, MC

المصدر: American Journal of Human Genetics , 98 (6) pp. 1249-1255. (2016)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1498362/1/Madeo_Loss-of-Function_Mutations_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1498362Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1498362/1/Madeo_Loss-of-Function_Mutations_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1498362Test/

المؤلفون: Raivio, T, Avbelj, M, McCabe, MJ, Romero, CJ, Dwyer, AA, Tommiska, J, Sykiotis, GP, Gregory, LC, Diaczok, D, Tziaferi, V, Elting, MW, Padidela, R, Plummer, L, Martin, C, Feng, B, Zhang, C, Zhou, QY, Chen, H, Mohammadi, M, Quinton, R, Sidis, Y, Radovick, S, Dattani, MT, Pitteloud, N

المصدر: urn:ISSN:0021-972X ; urn:ISSN:1945-7197 ; Journal of Clinical Endocrinology and Metabolism, 97, 4, e694-e699

مصطلحات موضوعية: Rare Diseases, Genetics, 2 Aetiology, 2.1 Biological and endogenous factors, Animals, Female, Fibroblast Growth Factor 8, Genetic Association Studies, Heterozygote, Humans, Hypopituitarism, Kallmann Syndrome, Male, Mice, Transgenic, Mutation, Nerve Tissue Proteins, Neurons, Pituitary Gland, Posterior, Receptor, Fibroblast Growth Factor, Type 1, Receptors, G-Protein-Coupled, Peptide, Recombinant Fusion Proteins, Septo-Optic Dysplasia, Signal Transduction, United Kingdom

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_13335Test; https://unsworks.unsw.edu.au/bitstreams/9a775d32-0bd2-4be6-ac22-f227ba3ab92c/downloadTest; https://doi.org/10.1210/jc.2011-2938Test

الإتاحة: https://doi.org/10.1210/jc.2011-2938Test
http://hdl.handle.net/1959.4/unsworks_13335Test
https://unsworks.unsw.edu.au/bitstreams/9a775d32-0bd2-4be6-ac22-f227ba3ab92c/downloadTest

المؤلفون: Bek-Tol, MC, Elting, MW, Berendse, HW

المصدر: Bek-Tol , MC , Elting , MW & Berendse , HW 2016 , ' PHARC: zeldzame oorzaak van polyneuropathie met ataxie ' , Tijdschrift voor Neurologie & Neurochirurgie , vol. 117 , no. 3 , pp. 103-108 . < http://www.ariez.nl/artikelen.1206.lynkx?edition=&authorTest=Elting&title=&keyword=&free=&event=search&tijdschrift=tnn >

العلاقة: https://research.vumc.nl/en/publications/7da52fcd-0edf-49fd-a289-28694222d323Test

الإتاحة: https://research.vumc.nl/en/publications/7da52fcd-0edf-49fd-a289-28694222d323Test
http://www.ariez.nl/artikelen.1206.lynkx?edition=&authorTest=Elting&title=&keyword=&free=&event=search&tijdschrift=tnn

المؤلفون: Terhal, PA, Nievelstein, RJAJ, Verver, EJJ, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, MEH, Smithson, SF, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, AH, Veenstra-Knol, HE, Herkert, JC, Lund, AM, Hennekam, RCM, Megarbane, A, Lees, MM, Wilson, LC, Male, A, Hurst, J, Alanay, Y, Anneren, G, Betz, RC, Bongers, EMHF, Cormier-Daire, V, Dieux, A, David, A, Elting, MW, van den Ende, J, Green, A, van Hagen, JM, Hertel, NT, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, HD, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, EM, Tobias, ES

المصدر: Terhal , PA , Nievelstein , RJAJ , Verver , EJJ , Topsakal , V , van Dommelen , P , Hoornaert , K , Le Merrer , M , Zankl , A , Simon , MEH , Smithson , SF , Marcelis , C , Kerr , B , Clayton-Smith , J , Kinning , E , Mansour , S , Elmslie , F , Goodwin , L , van der Hout , AH , Veenstra-Knol , HE , Herkert , JC , Lund , AM , Hennekam , RCM , Megarbane , A , Lees , MM ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, SDG 3 - Good Health and Well-being

الإتاحة: https://doi.org/10.1002/ajmg.a.36922Test
https://pure.eur.nl/en/publications/605c2ec0-c9be-4cfa-974d-cd02e5ac6ae3Test