المؤلفون: Klockner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bonnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, V, Leppig, KA, Lundgren, J, McDonald, MT, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stodberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, MJ, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, SB, Zarate, YA, Moller, RS, Lemke, JR, Platzer, K

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):653-660

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145338504

المؤلفون: Verberne, EA, Goh, SX, England, J, van Ginkel, M, Rafael-Croes, L, Maas, S, Polstra, A, Zarate, YA, Bosanko, KA, Pechter, KB, Bedoukian, E, Izumi, K, Chaudhry, A, Robin, NH, Boothe, M, Lippa, NC, Aggarwal, V, De Vivo, DC, Lehman, A, Stockler, S, Bruel, AL, Isidor, B, Lemons, J, Rodriguez-Buritica, DF, Richmond, CM, Stark, Z, Agrawal, PB, Kooy, RF, Meuwissen, MEC, Koolen, DA, Pfundt, R, Lieden, A, Anderlid, BM, Glatz, D, Mannens, MMAM, Bakshi, M, Mallette, FA, van Haelst, MM, Campeau, PM

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(2):374-383

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144987546

المؤلفون: Lewis, H, Samanta, D, Orsell, JL, Bosanko, KA, Rowell, A, Jones, M, Dale, RC, Taravath, S, Hahn, CD, Krishnakumar, D, Chagnon, S, Keller, S, Hagebeuk, E, Pathak, S, Bebin, EM, Arndt, DH, Alexander, JJ, Mainali, G, Coppola, G, Maclean, J, Sparagana, S, McNamara, N, Smith, DM, Raggio, V, Cruz, M, Fernandez-Jaen, A, Kava, MP, Emrick, L, Fish, JL, Vanderver, A, Helman, G, Pierson, TM, Zarate, YA

المصدر: Pediatric neurology. 112:94-100

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144959121

المؤلفون: Cogne, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjold, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Sapp, JC, Zyskind, J, Holla, OL, Bedoukian, E, Filippini, F, Guimier, A, Picard, A, Busk, OL, Punetha, J, Pfundt, R, Lindstrand, A, Nordgren, A, Kalb, F, Desai, M, Ebanks, AH, Jhangiani, SN, Dewan, T, Akdemir, ZHC, Telegrafi, A, Zackai, EH, Begtrup, A, Song, XF, Toutain, A, Wentzensen, IM, Odent, S, Bonneau, D, Latypova, X, Deb, W, Redon, S, Bilan, F, Legendre, M, Troyer, C, Whitlock, K, Caluseriu, O, Murphree, MI, Pichurin, PN, Agre, K, Gavrilova, R, Rinne, T, Park, M, Shain, C, Heinzen, EL, Xiao, R, Amiel, J, Lyonnet, S, Isidor, B, Biesecker, LG, Lowenstein, D, Posey, JE, Denomme-Pichon, AS, Ferec, C, Yang, XJ, Rosenfeld, JA, Gilbert-Dussardier, B, Audebert-Bellanger, S, Redon, R, Stessman, HAF, Nellaker, C, Yang, YP, Lupski, JR, Goldstein, DB, Eichler, EE, Bolduc, F, Bezieau, S, Kury, S, Campeau, PM

المصدر: American journal of human genetics. 104(3):530-541

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:140454820

المؤلفون: Klockner, C, Sticht, H, Zacher, P, Popp, B, Babcock, HE, Bakker, DP, Barwick, K, Bonfert, MV, Bonnemann, CG, Brilstra, EH, Chung, WK, Clarke, AJ, Devine, P, Donkervoort, S, Fraser, JL, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, MA, Lee, VA, Leppig, KA, Lundgren, J, McDonald, MT, McLaughlin, HM, McTague, A, Mefford, HC, Mignot, C, Mikati, MA, Nava, C, Raymond, FL, Sampson, JR, Sanchis-Juan, A, Shashi, V, Shieh, JTC, Shinawi, M, Slavotinek, A, Stodberg, T, Stong, N, Sullivan, JA, Taylor, AC, Toler, TL, van den Boogaard, MJ, van der Crabben, SN, van Gassen, KLI, van Jaarsveld, RH, Van Ziffle, J, Wadley, AF, Wagner, M, Wigby, K, Wortmann, SB, Zarate, YA, Moller, RS, Lemke, JR, Platzer, K

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(4):796-796

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146229962

المؤلفون: Zarate, YA, Orsell, JL, Bosanko, K, Srikanth, S, Cascio, L, Pauly, R, Boccuto, L

المصدر: Metabolic brain disease. 36(5):1049-1056

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:146056739

المؤلفون: Stamberger, H, Hammer, TB, Gardella, E, Vlaskamp, DRM, Bertelsen, B, Mandelstam, S, Lange, I, Zhang, J, Myers, CT, Fenger, C, Afawi, Z, Almanza Fuerte, EP, Andrade, DM, Balcik, Y, Ben Zeev, B, Bennett, MF, Berkovic, SF, Isidor, B, Bouman, Arjan, Brilstra, E, Busk, ØL, Cairns, A, Caumes, R, Chatron, N, Dale, RC, de Geus, C, Edery, P, Gill, D, Granild-Jensen, JB, Gunderson, L, Gunning, B, Heimer, G, Helle, JR, Hildebrand, MS, Hollingsworth, G, Kharytonov, V, Klee, EW, Koeleman, BPC, Koolen, DA (David), Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, RJ, Mackay, MT, Macke, EL, McEntagart, M, Mohammad, SS, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, AM, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, PS, Rosenow, F, Rossi, M, Sadleir, LG, Sadoway, T, Schelhaas, HJ, Schneider, AL, Shah, K, Shalev, R, Sisodiya, SM, Smol, T, Stumpel, Ctrm, Stuurman, Kyra, Symonds, JD, Mau-Them, FT, Verbeek, N, Verhoeven, JS, Wallace, G, Yosovich, K, Zarate, YA, Zerem, A, Zuberi, SM, Guerrini, R, Mefford, HC, Patel, C, Zhang, YH, Møller, RS, Scheffer, IE

المصدر: Stamberger , H , Hammer , TB , Gardella , E , Vlaskamp , DRM , Bertelsen , B , Mandelstam , S , Lange , I , Zhang , J , Myers , CT , Fenger , C , Afawi , Z , Almanza Fuerte , EP , Andrade , DM , Balcik , Y , Ben Zeev , B , Bennett , MF , Berkovic , SF , Isidor , B , Bouman , A , Brilstra , E , Busk , ØL , Cairns , A , Caumes , R , Chatron , N , Dale ....

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

الاتاحة: https://pure.eur.nl/en/publications/be1c259f-7c9a-4ffe-8c90-cf355d9e1348
https://doi.org/10.1038/s41436-020-00988-9
http://www.scopus.com/inward/record.url?scp=85094911047&partnerID=8YFLogxK
http://www.gimjournal.org/article/S109836002102548X/pdf

المؤلفون: Wissinger B, Baumann B, Buena-Atienza E, Ravesh Z, Cideciyan AV, Stingl K, Audo I, Meunier I, Bocquet B, Traboulsi EI, Hardcastle AJ, Gardner JC, Michaelides M, Branham KE, Rosenberg T, Andreasson S, Dollfus H, Birch D, Vincent AL, Martorell-Sampol L, Catala J, Kellner U, Rüther K, Lorenz B, Preising MN, Manfredini E, Zarate YA, Vijzelaar R, Zrenner E, Jacobson SG, Kohl S

المصدر: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: gene conversion, BCM, human visual pigment genes, opsin gene deletion, locus control region

URL الوصول: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::9ee8ad8d9dd1a703edd77c3f09a8e49d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21760

المؤلفون: Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Thropp EK, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL.

المساهمون: Zarate, Ya, Bosanko, Ka, Caffrey, Ar, Bernstein, Ja, Martin, Dm, Williams, M, Berry-Kravis, Em, Mark, Pr, Manning, Ma, Bhambhani, V, Vargas, M, Seeley, Ah, Estrada-Veras, Ji, van Dooren, Mf, Schwab, M, Vanderver, A, Melis, D, Alsadah, A, Sadler, L, Van Esch, H, Callewaert, B, Oostra, A, Maclean, J, Dentici, Ml, Orlando, V, Lipson, M, Sparagana, Sp, Maarup, Tj, Alsters, Si, Brautbar, A, Thropp, Ek, Naidu, S, Lees, M, Smith, Dm, Turner, L, Raggio, V, Spangenberg, L, Garcia-Miñaúr, S, Roeder, Er, Littlejohn, Ro, Grange, D, Pfotenhauer, J, Jones, Mc, Balasubramanian, M, Martinez-Monseny, A, Blok, L, Gavrilova, R, Fish, Jl.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000480595600003; firstpage:1013; lastpage:1029; numberofpages:17; journal:HUMAN MUTATION; http://hdl.handle.net/11386/4729945; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85069917016

الاتاحة: http://hdl.handle.net/11386/4729945
https://doi.org/10.1002/humu.23771

المؤلفون: Wenger, TL, Bly, RA, Wu, N, Albert, CM, Park, J, Shieh, J, Chenbhanich, J, Heike, CL, Adam, MP, Chang, I, Sun, A, Miller, DE, Beck, AE, Gupta, D, Boos, MD, Zackai, EH, Everman, D, Ganapathi, S, Wilson, M, Christodoulou, J, Zarate, YA, Curry, C, Li, D, Guimier, A, Amiel, J, Hakonarson, H, Webster, R, Bhoj, EJ, Perkins, JA, Dahl, JP, Dobyns, WB

Relation: Wenger, T. L., Bly, R. A., Wu, N., Albert, C. M., Park, J., Shieh, J., Chenbhanich, J., Heike, C. L., Adam, M. P., Chang, I., Sun, A., Miller, D. E., Beck, A. E., Gupta, D., Boos, M. D., Zackai, E. H., Everman, D., Ganapathi, S., Wilson, M. ,. Dobyns, W. B. (2020). Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 182 (7), pp.1576-1591. https://doi.org/10.1002/ajmg.a.61615.; http://hdl.handle.net/11343/275870

الاتاحة: http://hdl.handle.net/11343/275870

المؤلفون: Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB

المصدر: American Journal of Human Genetics, 5 September 2019

Relation: https://eprints.ncl.ac.uk/260119

الاتاحة: https://eprints.ncl.ac.uk/260119

المؤلفون: Burkardt, DD, Zachariou, A, Loveday, C, Allen, CL, Amor, DJ, Ardissone, A, Banka, S, Bourgois, A, Coubes, C, Cytrynbaum, C, Faivre, L, Marion, G, Horton, R, Kotzot, D, Lay-Son, G, Lees, M, Low, K, Luk, H-M, Mark, P, McConkie-Rosell, A, McDonald, M, Pappas, J, Phillipe, C, Shears, D, Skotko, B, Stewart, F, Stewart, H, Temple, IK, Mau-Them, FT, Verdugo, RA, Weksberg, R, Zarate, YA, Graham, JM, Tatton-Brown, K

Relation: Burkardt, D. D., Zachariou, A., Loveday, C., Allen, C. L., Amor, D. J., Ardissone, A., Banka, S., Bourgois, A., Coubes, C., Cytrynbaum, C., Faivre, L., Marion, G., Horton, R., Kotzot, D., Lay-Son, G., Lees, M., Low, K., Luk, H. -M., Mark, P. ,. Tatton-Brown, K. (2019). HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 179 (10), pp.2049-2055. https://doi.org/10.1002/ajmg.a.61321.; http://hdl.handle.net/11343/286259

الاتاحة: http://hdl.handle.net/11343/286259

المؤلفون: Zarate YA (AUTHOR), Hopkin RJ (AUTHOR)

المصدر: Lancet. 10/18/2008, Vol. 372 Issue 9647, p1427-1435. 9p.