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1Academic Journal
المؤلفون: Powis, Z., Farwell Hagman, K. D., Mroske, C., McWalter, K., Cohen, J. S., Colombo, R., Serretti, A., Fatemi, A., David, K. L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C. M., Payne, K., Barbaro-Dieber, T., Gripp, K. W., Baker, L., Stamper, T., Aleck, K. A., Jordan, E. S., Hersh, J. H., Burton, J., Wentzensen, I. M., Guillen Sacoto, M. J., Willaert, R., Cho, M. T., Petrik, I., Huether, R., Tang, S.
المساهمون: Powis, Z.*, Farwell Hagman, K.D., Mroske, C., McWalter, K., Cohen, J.S., Colombo, R., Serretti, A., Fatemi, A., David, K.L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C.M., Payne, K., Barbaro-Dieber, T., Gripp, K.W., Baker, L., Stamper, T., Aleck, K.A., Jordan, E.S., Hersh, J.H., Burton, J., Wentzensen, I.M., Guillen Sacoto, M.J., Willaert, R., Cho, M.T., Petrik, I., Huether, R., Tang, S.
مصطلحات موضوعية: exome sequencing, haploinsufficiency, intellectual disability, SETD5, Genetic, Genetics (clinical)
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/28881385; info:eu-repo/semantics/altIdentifier/wos/WOS:000427471000004; volume:93; issue:4; firstpage:752; lastpage:761; numberofpages:10; journal:CLINICAL GENETICS; http://hdl.handle.net/11585/659339; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85043992666; http://www.blackwellpublishing.com/aims.asp?ref=0009-9163?site=1
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2Academic Journal
المؤلفون: Koczkowska, M, Chen, YJ (Yuan Jia), Callens, T, Gomes, A, Sharp, A, Johnson, S, Hsiao, MC, Chen, ZB, Balasubramanian, M, Barnett, CP, Becker, TA, Ben-Shachar, S, Bertola, DR, Blakeley, JO, Burkitt-Wright, EMM, Callaway, A, Crenshaw, M, Cunha, KS, Cunningham, M, D'Agostino, MD, Dahan, K, Luca, A, Destree, A, Dhamija, R, Eoli, M, Evans, DGR, Galvin-Parton, P, George-Abraham, JK, Gripp, KW, Guevara-Campos, J, Hanchard, NA, Hernandez-Chico, C, Immken, L, Janssens, S, Jones, KJ, Keena, BA, Kochhar, A, Liebelt, J, Martir-Negron, A, Mahoney, MJ, Maystadt, I, McDougall, C, McEntagart, M, Mendelsohn, N, Miller, DT, Mortier, G, Morton, J, Pappas, J, Plotkin, SR, Pond, D, Rosenbaum, K, Rubin, K, Russell, L, Rutledge, LS, Saletti, V, Schonberg, R, Schreiber, A, Seidel, M, Siqveland, E, Stockton, DW, Trevisson, E, Ullrich, NJ, Upadhyaya, M, van Minkelen, Rick, Verhelst, H, Wallace, MR, Yap, YS, Zackai, E, Zonana, J, Zurcher, V, Claes, K, Martin, Y, Korf, BR, Legius, E, Messiaen, LM
المصدر: Koczkowska , M , Chen , YJ , Callens , T , Gomes , A , Sharp , A , Johnson , S , Hsiao , MC , Chen , ZB , Balasubramanian , M , Barnett , CP , Becker , TA , Ben-Shachar , S , Bertola , DR , Blakeley , JO , Burkitt-Wright , EMM , Callaway , A , Crenshaw , M , Cunha , KS , Cunningham , M , D'Agostino , MD , Dahan , K , Luca , A , Destree , A , Dhamija , R , Eoli , M ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
وصف الملف: application/pdf
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3Academic Journal
المؤلفون: Lessel, D., Schob, C., Küry, S., Reinders, M.R.F., Harel, T., Eldomery, M.K., Coban-Akdemir, Z., Denecke, J., Edvardson, S., Colin, E., Stegmann, A.P.A., Gerkes, E.H., Tessarech, M., Bonneau, D., Barth, M., Besnard, T., Cogné, B., Revah-Politi, A., Strom, T.M., Rosenfeld, J.A., Yang, Y., Posey, J.E., Immken, L., Oundjian, N., Helbig, K.L., Meeks, N., Zegar, K., Morton, J., Schieving, J.H., Claasen, A., Huentelman, M., Narayanan, V., Ramsey, K., Brunner, H.G., Elpeleg, O., Mercier, S., Bézieau, S., Kubisch, C., Kleefstra, T., Kindler, S., Lupski, J.R., Kreienkamp, H.J.
المصدر: Am. J. Hum. Genet. 101, 716-724 (2017)
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/29100085; info:eu-repo/semantics/altIdentifier/wos/WOS:000414251600005; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=52265; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
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4Academic Journal
المؤلفون: Harris H. K., Nakayama T., Lai J., Zhao B., Argyrou N., Gubbels C. S., Soucy A., Genetti C. A., Suslovitch V., Rodan L. H., Tiller G. E., Lesca G., Gripp K. W., Asadollahi R., Hamosh A., Applegate C. D., Turnpenny P. D., Simon M. E. H., Volker-Touw C. M. L., Gassen K. L. I., Binsbergen E., Pfundt R., Gardeitchik T., Vries B. B. A., Immken L. D. L., Buchanan C., Willing M., Toler T. L., Fassi E., Baker L., Vansenne F., Wang X., Ambrus J. L., Fannemel M., Posey J. E., Agolini E., Novelli A., Rauch A., Boonsawat P., Fagerberg C. R., Larsen M. J., Kibaek M., Labalme A., Poisson A., Payne K. K., Walsh L. E., Aldinger K. A., Balciuniene J., Skraban C., Gray C., Murrell J., Bupp C. P., Pascolini G., Grammatico P., Broly M., Kury S., Nizon M., Rasool I. G., Zahoor M. Y., Kraus C., Reis A., Iqbal M., Uguen K., Audebert-Bellanger S., Ferec C., Redon S., Baker J., Wu Y., Zampino G., Syrbe S., Brosse I., Jamra R. A., Dobyns W. B., Cohen L. L., Blomhoff A., Mignot C., Keren B., Courtin T., Agrawal P. B., Beggs A. H., Yu T. W.
المساهمون: Harris, H. K., Nakayama, T., Lai, J., Zhao, B., Argyrou, N., Gubbels, C. S., Soucy, A., Genetti, C. A., Suslovitch, V., Rodan, L. H., Tiller, G. E., Lesca, G., Gripp, K. W., Asadollahi, R., Hamosh, A., Applegate, C. D., Turnpenny, P. D., Simon, M. E. H., Volker-Touw, C. M. L., Gassen, K. L. I., Binsbergen, E., Pfundt, R., Gardeitchik, T., Vries, B. B. A., Immken, L. D. L., Buchanan, C., Willing, M., Toler, T. L., Fassi, E., Baker, L., Vansenne, F., Wang, X., Ambrus, J. L., Fannemel, M., Posey, J. E., Agolini, E., Novelli, A., Rauch, A., Boonsawat, P., Fagerberg, C. R., Larsen, M. J., Kibaek, M., Labalme, A., Poisson, A., Payne, K. K., Walsh, L. E., Aldinger, K. A., Balciuniene, J., Skraban, C., Gray, C., Murrell, J., Bupp, C. P., Pascolini, G., Grammatico, P., Broly, M., Kury, S., Nizon, M., Rasool, I. G., Zahoor, M. Y., Kraus, C., Reis, A., Iqbal, M., Uguen, K., Audebert-Bellanger, S., Ferec, C., Redon, S., Baker, J., Wu, Y., Zampino, G., Syrbe, S., Brosse, I., Jamra, R. A., Dobyns, W. B., Cohen, L. L., Blomhoff, A., Mignot, C., Keren, B., Courtin, T., Agrawal, P. B., Beggs, A. H., Yu, T. W.
مصطلحات موضوعية: FRX, autism, intellectual disability
Relation: info:eu-repo/semantics/altIdentifier/pmid/33658631; info:eu-repo/semantics/altIdentifier/wos/WOS:000625025700001; volume:23; issue:6; firstpage:1028; lastpage:1040; numberofpages:13; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11573/1523877; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102065834
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5Academic Journal
المؤلفون: Wiszniewski, W, Hunter, J, Hanchard, N, Willer, J, Shaw, C, Tian, Q, Illner, A, Wang, X, Cheung, S, Patel, A, Campbell, I, Gelowani, V, Hixson, P, Ester, A, Azamian, M, Potocki, L, Zapata, G, Hernandez, P, Ramocki, M, Santos-Cortez, R, Wang, G, York, M, Justice, M, Chu, Z, Bader, P, Omo-Griffith, L, Madduri, N, Scharer, G, Crawford, H, Yanatatsaneejit, P, Eifert, A, Kerr, J, Bacino, C, Franklin, A, Goin-Kochel, R, Simpson, G, Immken, L, Haque, M, Stosic, M, Williams, M, Morgan, T, Pruthi, S, Omary, R, Boyadjiev, S, Win, K, Thida, A, Hurles, M, Hibberd, M, Khor, C, Van Vinh Chau, N, Gallagher, T, Mutirangura, A, Stankiewicz, P, Beaudet, A, Maletic-Savatic, M, Rosenfeld, J, Shaffer, L, Davis, E, Belmont, J, Dunstan, S, Simmons, C, Bonnen, P, Leal, S, Katsanis, N, Lupski, J, Lalani, S
Relation: https://ora.ox.ac.uk/objects/uuid:e6ebc2f9-1532-4403-9b43-884f57de59f1; https://doi.org/10.1016/j.ajhg.2013.05.027
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6Academic Journal
المؤلفون: Santiago-Sim T., Burrage L. C., Ebstein F., Tokita M. J., Miller M., Bi W., Braxton A. A., Rosenfeld J. A., Shahrour M., Lehmann A., Cogne B., Kury S., Besnard T., Isidor B., Bezieau S., Hazart I., Nagakura H., Immken L. L., Littlejohn R. O., Roeder E., Afawi Z., Balling R., Barisic N., Baulac S., Craiu D., De Jonghe P., Guerrero-Lopez R., Guerrini R., Helbig I., Hjalgrim H., Jahn J., Klein K. M., Leguern E., Lerche H., Marini C., Muhle H., Rosenow F., Serratosa J., Sterbova K., Suls A., Moller R. S., Striano P., Weber Y., Zara F., Kara B., Hardies K., Weckhuysen S., May P., Lemke J. R., Elpeleg O., Abu-Libdeh B., James K. N., Silhavy J. L., Issa M. Y., Zaki M. S., Gleeson J. G., Seavitt J. R., Dickinson M. E., Ljungberg M. C., Wells S., Johnson S. J., Teboul L., Eng C. M., Yang Y., Kloetzel P. -M., Heaney J. D., Walkiewicz M. A.
المساهمون: Santiago-Sim, T., Burrage, L. C., Ebstein, F., Tokita, M. J., Miller, M., Bi, W., Braxton, A. A., Rosenfeld, J. A., Shahrour, M., Lehmann, A., Cogne, B., Kury, S., Besnard, T., Isidor, B., Bezieau, S., Hazart, I., Nagakura, H., Immken, L. L., Littlejohn, R. O., Roeder, E., Afawi, Z., Balling, R., Barisic, N., Baulac, S., Craiu, D., De Jonghe, P., Guerrero-Lopez, R., Guerrini, R., Helbig, I., Hjalgrim, H., Jahn, J., Klein, K. M., Leguern, E., Lerche, H., Marini, C., Muhle, H., Rosenow, F., Serratosa, J., Sterbova, K., Suls, A., Moller, R. S., Striano, P., Weber, Y., Zara, F., Kara, B., Hardies, K., Weckhuysen, S., May, P., Lemke, J. R., Elpeleg, O., Abu-Libdeh, B., James, K. N., Silhavy, J. L., Issa, M. Y., Zaki, M. S., Gleeson, J. G., Seavitt, J. R., Dickinson, M. E., Ljungberg, M. C., Wells, S., Johnson, S. J., Teboul, L., Eng, C. M., Yang, Y., Kloetzel, P. -M., Heaney, J. D., Walkiewicz, M. A.
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/28343629; info:eu-repo/semantics/altIdentifier/wos/WOS:000398389600010; volume:100; firstpage:676; lastpage:688; numberofpages:13; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11567/1022093; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85016076184
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7Academic Journal
المؤلفون: Wiszniewski, W, Hunter, JV, Hanchard, NA, Willer, JR, Shaw, C, Tian, Q, Illner, A, Wang, X, Cheung, SW, Patel, A, Campbell, IM, Gelowani, V, Hixson, P, Ester, AR, Azamian, MS, Potocki, L, Zapata, G, Hernandez, PP, Ramocki, MB, Santos-Cortez, RLP, Wang, G, York, MK, Justice, MJ, Chu, ZD, Bader, PI, Omo-Griffith, L, Madduri, NS, Scharer, G, Crawford, HP, Yanatatsaneejit, P, Eifert, A, Kerr, J, Bacino, CA, Franklin, AIA, Goin-Kochel, RP, Simpson, G, Immken, L, Haque, ME, Stosic, M, Williams, MD, Morgan, TM, Pruthi, S, Omary, R, Boyadjiev, SA, Win, KK, Thida, A, Hurles, M, Hibberd, ML, Khor, CC, Chau, NVV, Gallagher, TE, Mutirangura, A, Stankiewicz, P, Beaudet, AL, Maletic-Savatic, M, Rosenfeld, JA, Shaffer, LG, Davis, EE, Belmont, JW, Dunstan, S, Simmons, CP, Bonnen, PE, Leal, SM, Katsanis, N, Lupski, JR, Lalani, SR
Relation: pii: S0002-9297(13)00269-3; Wiszniewski, W., Hunter, J. V., Hanchard, N. A., Willer, J. R., Shaw, C., Tian, Q., Illner, A., Wang, X., Cheung, S. W., Patel, A., Campbell, I. M., Gelowani, V., Hixson, P., Ester, A. R., Azamian, M. S., Potocki, L., Zapata, G., Hernandez, P. P., Ramocki, M. B. ,. Lalani, S. R. (2013). TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities. AMERICAN JOURNAL OF HUMAN GENETICS, 93 (2), pp.197-210. https://doi.org/10.1016/j.ajhg.2013.05.027.; http://hdl.handle.net/11343/191073
الاتاحة: http://hdl.handle.net/11343/191073
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8Academic Journal
المؤلفون: Powis, Z., Farwell Hagman, K. D., Mroske, C., Mcwalter, K., Cohen, J. S., Colombo, R., Serretti, A., Fatemi, A., David, K. L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C. M., Payne, K., Barbaro‐dieber, T., Gripp, K. W., Baker, L., Stamper, T., Aleck, K. A., Jordan, E. S.
المصدر: Clinical Genetics; Apr2018, Vol. 93 Issue 4, p752-761, 11p, 1 Chart
مصطلحات موضوعية: INTELLECTUAL disabilities, GENETIC carriers, ETIOLOGY of mental illnesses, GENETIC mutation
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9Academic Journal
المؤلفون: Chen, H., Immken, L., Lachman, R., Yang, S., Rimoin, D. L., Rightmire, D., Eteson, D., Stewart, F., Beemer, F. A., Opitz, J. M., Gilbert, E. F., Langer, L. O., Shapiro, L. R., Duncan, P. A.
المصدر: American Journal of Medical Genetics ; volume 17, issue 4, page 809-826 ; ISSN 0148-7299 1096-8628
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10Academic Journal
المؤلفون: Chen, H., Blumberg, B., Immken, L., Lachman, R., Rightmire, D., Fowler, M., Bachman, R., Beemer, F. A.
المصدر: American Journal of Medical Genetics ; volume 16, issue 2, page 213-224 ; ISSN 0148-7299 1096-8628
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11
المؤلفون: Wasmuth, J J, Carlock, L R, Smith, B, Immken, L L
مصطلحات موضوعية: Genetic Markers, Polymorphism, Genetic, Genetic Linkage, DNA, Recombinant, Hybrid Cells, Chromosome Banding, Cricetulus, Huntington Disease, Cricetinae, Karyotyping, Animals, Humans, Chromosomes, Human, Pair 4, Research Article
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