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1Academic Journal
المؤلفون: Werren, Elizabeth A, Peirent, Emily R, Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K L I, Giltay, Jacques C, Oegema, Renske, van Jaarsveld, Richard H, Rafiullah, Rafiullah, Rappold, Gudrun A, Rabin, Rachel, Pappas, John G, Wheeler, Marsha M, Bamshad, Michael J, Tsan, Yao-Chang, Johnson, Matthew B, Keegan, Catherine E, Srivastava, Anshika, Bielas, Stephanie L
المساهمون: Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Brain
مصطلحات موضوعية: Alleles, Cell Differentiation/genetics, Child, Preschool, Female, Humans, Intellectual Disability/genetics, Male, Malformations of Cortical Development/genetics, Membrane Proteins/genetics, Neurodevelopmental Disorders/genetics, Tumor Suppressor Proteins, Journal Article
وصف الملف: application/pdf
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2Academic Journal
المؤلفون: Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., De Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C. A., Bhat, G., Cobian, K., Bird, L. M., Friedman, J., Wright, M. S., Callewaert, B., Petit, Florence, Mathieu, S., Afenjar, A., Christensen, C. K., White, K. M., Elpeleg, O., Berger, I., Espineli, E. J., Fagerberg, C., Brasch-Andersen, C., Hansen, L. K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L. M., Mckee, S., Mirzaa, G. M., Muss, C., Pappas, J., Peeters, H., Romano, C., Elia, M., Galesi, O., Simon, M. E. H., Van Gassen, K. L. I., Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I. V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R. K., Nowakowski, T., Bernier, R. A., Eichler, E. E.
المساهمون: Université de Lille, CHU Lille, Washington University School of Medicine Saint Louis, MO, Karolinska University Hospital Solna, Sweden KUH, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP
مصطلحات موضوعية: Gene families, hnRNPs, Neurodevelopmental disorders, Cortex development
وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf
Relation: Genome Medicine; Genome Med; http://hdl.handle.net/20.500.12210/84177
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3Electronic Resource
المؤلفون: Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Brain, Werren, Elizabeth A, Peirent, Emily R, Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K L I, Giltay, Jacques C, Oegema, Renske, van Jaarsveld, Richard H, Rafiullah, Rafiullah, Rappold, Gudrun A, Rabin, Rachel, Pappas, John G, Wheeler, Marsha M, Bamshad, Michael J, Tsan, Yao-Chang, Johnson, Matthew B, Keegan, Catherine E, Srivastava, Anshika, Bielas, Stephanie L
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4Academic Journal
المؤلفون: Gillentine, M. A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P., Guo, H., Kim, C. N., de Vries, B. B. A., Vissers, L. E. L. M., Nordenskjold, M., Kvarnung, M., Lindstrand, A., Nordgren, A., Gecz, J., Iascone, M., Cereda, A., Scatigno, A., Maitz, S., Zanni, G., Bertini, E., Zweier, C., Schuhmann, S., Wiesener, A., Pepper, M., Panjwani, H., Torti, E., Abid, F., Anselm, I., Srivastava, S., Atwal, P., Bacino, C. A., Bhat, G., Cobian, K., Bird, L. M., Friedman, J., Wright, M. S., Callewaert, B., Petit, Florence, Mathieu, S., Afenjar, A., Christensen, C. K., White, K. M., Elpeleg, O., Berger, I., Espineli, E. J., Fagerberg, C., Brasch-Andersen, C., Hansen, L. K., Feyma, T., Hughes, S., Thiffault, I., Sullivan, B., Yan, S., Keller, K., Keren, B., Mignot, C., Kooy, F., Meuwissen, M., Basinger, A., Kukolich, M., Philips, M., Ortega, L., Drummond-Borg, M., Lauridsen, M., Sorensen, K., Lehman, A., Lopez-Rangel, E., Levy, P., Lessel, D., Lotze, T., Madan-Khetarpal, S., Sebastian, J., Vento, J., Vats, D., Benman, L. M., Mckee, S., Mirzaa, G. M., Muss, C., Pappas, J., Peeters, H., Romano, C., Elia, M., Galesi, O., Simon, M. E. H., van Gassen, K. L. I., Simpson, K., Stratton, R., Syed, S., Thevenon, J., Palafoll, I. V., Vitobello, A., Bournez, M., Faivre, L., Xia, K., Earl, R. K., Nowakowski, T., Bernier, R. A., Eichler, E. E.
المساهمون: Washington University School of Medicine Saint Louis, MO, Karolinska University Hospital Solna, Sweden (KUH), Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 (RADEME), Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre de Référence Déficiences Intellectuelles de causes rares / Rare Disease Reference Center for Intellectual Disability CHU Robert Debré, AP-HP, AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
المصدر: ISSN: 1756-994X ; Genome Medicine ; https://hal.univ-lille.fr/hal-04219731 ; Genome Medicine, 2021, Genome Medicine, 13 (63), ⟨10.1186/s13073-021-00870-6⟩.
مصطلحات موضوعية: Gene families, Cortex development, hnRNPs, Neurodevelopmental disorders, [SDV]Life Sciences [q-bio]
Relation: info:eu-repo/semantics/altIdentifier/pmid/33874999; PUBMED: 33874999
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5Academic Journal
المؤلفون: Werren, Elizabeth A., Peirent, Emily R., Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K. L. I., Giltay, Jacques C., Oegema, Renske, van Jaarsveld, Richard H., Rafiullah, Rafiullah
المصدر: Cell Death & Disease; May2024, Vol. 15 Issue 5, p1-15, 15p
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6Academic Journal
المؤلفون: Morleo M., Venditti R., Theodorou E., Briere L. C., Rosello M., Tirozzi A., Tammaro R., Al-Badri N., High F. A., Shi J., Acosta M. T., Adam M., Adams D. R., Alvarez R. L., Alvey J., Amendola L., Andrews A., Ashley E. A., Bacino C. A., Bademci G., Balasubramanyam A., Baldridge D., Bale J., Bamshad M., Barbouth D., Bayrak-Toydemir P., Beck A., Beggs A. H., Behrens E., Bejerano G., Bellen H. J., Bennett J., Berg-Rood B., Bernstein J. A., Berry G. T., Bican A., Bivona S., Blue E., Bohnsack J., Bonner D., Botto L., Boyd B., Brown G., Burke E. A., Burrage L. C., Butte M. J., Byers P., Byrd W. E., Carey J., Carrasquillo O., Cassini T., Chang T. C. P., Chanprasert S., Chao H. -T., Clark G. D., Coakley T. R., Cobban L. A., Cogan J. D., Coggins M., Cole F. S., Colley H. A., Cooper C. M., Cope H., Corona R., Craigen W. J., Crouse A. B., Cunningham M., D'Souza P., Dai H., Dasari S., Davis J., Dayal J. G., Dell'Angelica E. C., Dipple K., Doherty D., Dorrani N., Doss A. L., Douine E. D., Earl D., Eckstein D. J., Emrick L. T., Eng C. M., Falk M., Fieg E. L., Fisher P. G., Fogel B. L., Forghani I., Gahl W. A., Glass I., Gochuico B., Goddard P. C., Godfrey R. A., Golden-Grant K., Grajewski A., Hadley D., Hahn S., Halley M. C., Hamid R., Hassey K., Hayes N., High F., Hing A., Hisama F. M., Holm I. A., Hom J., Horike-Pyne M., Huang A., Hutchison S., Introne W., Isasi R., Izumi K., Jamal F., Jarvik G. P., Jarvik J., Jayadev S., Jean-Marie O., Jobanputra V., Karaviti L., Ketkar S., Kiley D., Kilich G., Kobren S. N., Kohane I. S., Kohler J. N., Korrick S., Kozuira M., Krakow D., Krasnewich D. M., Kravets E., Lalani S. R., Lam B., Lam C., Lanpher B. C., Lanza I. R., LeBlanc K., Lee B. H., Levitt R., Lewis R. A., Liu P., Liu X. Z., Longo N., Loo S. K., Loscalzo J., Maas R. L., Macnamara E. F., MacRae C. A., Maduro V. V., Maghiro A., Mahoney R., Malicdan M. C. V., Mamounas L. A., Manolio T. A., Mao R., Maravilla K., Marom R., Marth G., Martin B. A., Martin M. G., Martinez-Agosto J. A., Marwaha S., McCauley J., McConkie-Rosell A., McCray A. T., McGee E., Mefford H., Merritt J. L., Might M., Mirzaa G., Morava E., Moretti P., Mulvihill J., Nakano-Okuno M., Nelson S. F., Newman J. H., Nicholas S. K., Nickerson D., Nieves-Rodriguez S., Novacic D., Oglesbee D., Orengo J. P., Pace L., Pak S., Pallais J. C., Palmer C. G. S., Papp J. C., Parker N. H., Phillips III J. A., Posey J. E., Potocki L., Pusey Swerdzewski B. N., Quinlan A., Rao D. A., Raper A., Raskind W., Renteria G., Reuter C. M., Rives L., Robertson A. K., Rodan L. H., Rosenfeld J. A., Rosenwasser N., Rossignol F., Ruzhnikov M., Sacco R., Sampson J. B., Saporta M., Schaechter J., Schedl T., Schoch K., Scott D. A., Scott C. R., Shashi V., Shin J., Silverman E. K., Sinsheimer J. S., Sisco K., Smith E. C., Smith K. S., Solnica-Krezel L., Solomon B., Spillmann R. C., Stoler J. M., Sullivan K., Sullivan J. A., Sun A., Sutton S., Sweetser D. A., Sybert V., Tabor H. K., Tan Q. K. -G., Tan A. L. M., Tekin M., Telischi F., Thorson W., Tifft C. J., Toro C., Tran A. A., Ungar R. A., Urv T. K., Vanderver A., Velinder M., Viskochil D., Vogel T. P., Wahl C. E., Walker M., Wallace S., Walley N. M., Wambach J., Wan J., Wang L. -K., Wangler M. F., Ward P. A., Wegner D., Weisz Hubshman M., Wener M., Wenger T., Westerfield M., Wheeler M. T., Whitlock J., Wolfe L. A., Worley K., Xiao C., Yamamoto S., Yang J., Zhang Z., Zuchner S., Nigro V., Torella A., Spampanato C., Pinelli M., Banfi S., Varavallo A., Selicorni A., Mariani M., Massimello M., Daolio C., Capra V., Accogli A., Scala M., Leuzzi V., Nardecchia F., Galosi S., Mastrangelo M., Milani D., Vitiello G., Piluso G., Romano C., Failla P., Greco D., Pantaleoni C., Ciaccio C., D'Arrigo S., Brunetti Pierri N., Parenti G., Coppola A., Mattina T., Zollino M., Amenta S., Tummolo A., Santoro C., Grandone A., De Brasi D., Varone A., Garavelli L., Marini C., Bigoni S., Piscopo C., Trabacca A., De Rinaldis M., Peron A., Putti E., Ferrante L., Cetrangolo V., Walker M. A., Tenconi R., Iascone M., Mei D., Guerrini R., van der Smagt J., Kroes H. Y., van Gassen K. L. I., Bilal M., Umair M., Pingault V., Attie-Bitach T., Amiel J., Ejaz R., Rodan L., Agrawal P. B., Del Bene F., Franco B.
المساهمون: Morleo, M., Venditti, R., Theodorou, E., Briere, L. C., Rosello, M., Tirozzi, A., Tammaro, R., Al-Badri, N., High, F. A., Shi, J., Acosta, M. T., Adam, M., Adams, D. R., Alvarez, R. L., Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Bacino, C. A., Bademci, G., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Behrens, E., Bejerano, G., Bellen, H. J., Bennett, J., Berg-Rood, B., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., Boyd, B., Brown, G., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Byrd, W. E., Carey, J., Carrasquillo, O., Cassini, T., Chang, T. C. P., Chanprasert, S., Chao, H. -T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Coggins, M., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Corona, R., Craigen, W. J., Crouse, A. B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J. G., Dell'Angelica, E. C., Dipple, K., Doherty, D., Dorrani, N., Doss, A. L., Douine, E. D., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Falk, M., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Gahl, W. A., Glass, I., Gochuico, B., Goddard, P. C., Godfrey, R. A., Golden-Grant, K., Grajewski, A., Hadley, D., Hahn, S., Halley, M. C., Hamid, R., Hassey, K., Hayes, N.
مصطلحات موضوعية: PIP5K1C, de novo gain-of-function variant, developmental delay, endosome, intellectual disability, phosphatidylinositol 4,5 bisphosphate (PI(4,5)P(2)), phosphoinositide, zebrafish
Relation: info:eu-repo/semantics/altIdentifier/pmid/37451268; info:eu-repo/semantics/altIdentifier/wos/WOS:001052941700001; volume:110; issue:8; firstpage:1377; lastpage:1393; numberofpages:17; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11591/544390
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7Academic Journal
المؤلفون: van den Akker, W. M. R., Brummelman, I., Martis, L. M., Timmermans, R. N., Pfundt, R., Kleefstra, T., Willemsen, M. H., Gerkes, E. H., Herkert, J. C., van Essen, A. J., Rump, P., Vansenne, F., Terhal, P. A., van Haelst, M. M., Cristian, I., Turner, C. E., Cho, M. T., Begtrup, A., Willaert, R., Fassi, E., van Gassen, K. L. I., Stegmann, A. P. A., de Vries, B. B. A., Schuurs-Hoeijmakers, J. H. M.
المصدر: van den Akker , W M R , Brummelman , I , Martis , L M , Timmermans , R N , Pfundt , R , Kleefstra , T , Willemsen , M H , Gerkes , E H , Herkert , J C , van Essen , A J , Rump , P , Vansenne , F , Terhal , P A , van Haelst , M M , Cristian , I , Turner , C E , Cho , M T , Begtrup , A , Willaert , R , Fassi , E , van Gassen , ....
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8Academic Journal
المؤلفون: Vears, D. F., Sénécal, K., Clarke, A. J., Jackson, L., Laberge, A. M., Lovrecic, L., Piton, A., Van Gassen, K. L. I., Yntema, H. G., Knoppers, B. M., Borry, P.
المصدر: European Journal of Human Genetics ; volume 26, issue 1, page 36-43 ; ISSN 1018-4813 1476-5438
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9Conference
المؤلفون: Rots, D., Chater-Diehl, E., Dingemans, A. J. M., Siu, M., Cytrynbaum, C., Hoang, N., Walker, S., Scherer, S., Pfundt, R., Rinne, T., Gardeitchik, T., de Vries, B. B. A., Stumpel, C. T. R. M., Stevens, S. J. C., van Harssel, J., Bosch, D. G. M., van Gassen, K. L. I., van Binsbergen, E., de Geus, C. M., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Ousager, L. B., Larsen, M., Schultz-Rogers, L., Morava, E., Klee, E. W., Berry, I. R., Campbell, J., Lindstrom, K., Neumeyer, A. M., Radley, J. A., Phornphutkul, C., Wilson, W. G., Schmidt, B., Meyn, S., Ounap, K., Reinson, K., Pajusalu, S., Ruivenkamp, C., van Haeringen, A., Cuperus, R., Vissers, L. E. L. M., Brunner, H. G., Kleefstra, T., Koolen, D. A., Weksberg, R., Inc, GeneDx
المصدر: Rots , D , Chater-Diehl , E , Dingemans , A J M , Siu , M , Cytrynbaum , C , Hoang , N , Walker , S , Scherer , S , Pfundt , R , Rinne , T , Gardeitchik , T , de Vries , B B A , Stumpel , C T R M , Stevens , S J C , van Harssel , J , Bosch , D G M , van Gassen , K L I , van Binsbergen , E , de Geus , C M , Hempel , M , ....
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10Academic JournalHaploinsufficiency of glutamine synthetase increases susceptibility to experimental febrile seizures
المؤلفون: Van Gassen, K. L. I., Van Der Hel, W. S., Hakvoort, T. B. M., Lamers, W. H., De Graan, P. N. E.
المصدر: Genes, Brain and Behavior ; volume 8, issue 3, page 290-295 ; ISSN 1601-1848 1601-183X
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11Academic Journal
المؤلفون: Kas, M. J. H., De Mooij‐van Malsen, J. G., De Krom, M., Van Gassen, K. L. I., Van Lith, H. A., Olivier, B., Oppelaar, H., Hendriks, J., De Wit, M., Groot Koerkamp, M. J. A., Holstege, F. C. P., Van Oost, B. A., De Graan, P. N. E.
المصدر: Genes, Brain and Behavior ; volume 8, issue 1, page 13-22 ; ISSN 1601-1848 1601-183X
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12Academic Journal
المؤلفون: Van Gassen, K. L. I., Hessel, E. V. S., Ramakers, G. M. J., Notenboom, R. G. E., Wolterink‐Donselaar, I. G., Brakkee, J. H., Godschalk, T. C., Qiao, X., Spruijt, B. M., Van Nieuwenhuizen, O., De Graan, P. N. E.
المصدر: Genes, Brain and Behavior ; volume 7, issue 5, page 578-586 ; ISSN 1601-1848 1601-183X
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13Academic JournalLysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
المؤلفون: Li, Lin, Ghorbani, Mohammad, Weisz-Hubshman, Monika, Rousseau, Justine, Thiffault, Isabelle, Schnur, Rhonda E, Breen, Catherine, Oegema, Renske, Weiss, Marjan Mm, Waisfisz, Quinten, Welner, Sara, Kingston, Helen, Hills, Jordan A, Boon, Elles Mj, Basel-Salmon, Lina, Konen, Osnat, Goldberg-Stern, Hadassa, Bazak, Lily, Tzur, Shay, Jin, Jianliang, Bi, Xiuli, Bruccoleri, Michael, McWalter, Kirsty, Cho, Megan T, Scarano, Maria, Schaefer, G Bradley, Brooks, Susan S, Hughes, Susan Starling, van Gassen, K L I, van Hagen, Johanna M, Pandita, Tej K, Agrawal, Pankaj B, Campeau, Philippe M, Yang, Xiang-Jiao
المساهمون: Genetica Klinische Genetica, Brain, Child Health, Genetica Sectie Genoomdiagnostiek
مصطلحات موضوعية: General Medicine, Journal Article
وصف الملف: application/pdf
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14Report
المؤلفون: Lonnqvist, T., Tyynismaa, H., Ylikallio, E., Woldegebriel, R., Tumiati, M., Isohanni, P., Ryan, M. M., Stark, Z., Maie, W., Sawyer, S. L., Bell, K. M., Oshlack, A., Lockhart, P. L., Shcherbii, M., Estrada-Cuzcano, A., Atkinson, D., Hartley, T., Tetreault, M., Cuppen, I., van der Pol, W. L., Candayan, A., Battaloglu, E., van Gassen, K. L. I., van den Boogaard, M. H., Boycott, K. M., Kauppi, L., Jordanova, A., Parman, Y.
المساهمون: University Of Helsinki ,, 154878
مصطلحات موضوعية: GENETİK VE HAYAT, BİYOKİMYA VE MOLEKÜLER BİYOLOJİ, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), Tıbbi Genetik, Yaşam Bilimleri, Sitogenetik, Temel Bilimler, Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri
Relation: Ylikallio E., Woldegebriel R., Tumiati M., Isohanni P., Ryan M. M. , Stark Z., Maie W., Sawyer S. L. , Bell K. M. , Oshlack A., et al., "MCM3AP in recessive axonal neuropathy and mild intellectual disability", 50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.40-41; vv_1032021; av_ac27ee70-e18e-46b0-8f23-4d9a2ecefa19; http://hdl.handle.net/20.500.12627/114889; 26
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15Electronic ResourceLysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
المؤلفون: Genetica Klinische Genetica, Brain, Child Health, Genetica Sectie Genoomdiagnostiek, Li, Lin, Ghorbani, Mohammad, Weisz-Hubshman, Monika, Rousseau, Justine, Thiffault, Isabelle, Schnur, Rhonda E, Breen, Catherine, Oegema, Renske, Weiss, Marjan Mm, Waisfisz, Quinten, Welner, Sara, Kingston, Helen, Hills, Jordan A, Boon, Elles Mj, Basel-Salmon, Lina, Konen, Osnat, Goldberg-Stern, Hadassa, Bazak, Lily, Tzur, Shay, Jin, Jianliang, Bi, Xiuli, Bruccoleri, Michael, McWalter, Kirsty, Cho, Megan T, Scarano, Maria, Schaefer, G Bradley, Brooks, Susan S, Hughes, Susan Starling, van Gassen, K L I, van Hagen, Johanna M, Pandita, Tej K, Agrawal, Pankaj B, Campeau, Philippe M, Yang, Xiang-Jiao
URL:
https://doi.org/10.1172/JCI131145 http://hdl.handle.net/1874/439131 https://dspace.library.uu.nl/handle/1874/439131 http://www.scopus.com/inward/record.url?scp=85081140075&partnerID=8YFLogxK
0021-9738
Journal of Clinical Investigation
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16Academic Journal
المؤلفون: Fuchs, SA, Schene, IF, Kok, G, Jansen, JM, Nikkels, PGJ, van Gassen, K L I, Lagro, Suzanne, van der Crabben, SN, Hoeks, Sanne, Niers, LEM, Wolf, NI, de Vries, MC, Koolen, DA (David), Houwen, RHJ, Mulder, MF (Margot), van Hasselt, PM
المصدر: Fuchs , SA , Schene , IF , Kok , G , Jansen , JM , Nikkels , PGJ , van Gassen , K L I , Lagro , S , van der Crabben , SN , Hoeks , S , Niers , LEM , Wolf , NI , de Vries , MC , Koolen , DA , Houwen , RHJ , Mulder , MF & van Hasselt , PM 2019 , ' Aminoacyl-tRNA synthetase deficiencies in search of common themes ' , Genetics in Medicine , vol. 21 , no. 2 , pp. 319-330 . https://doi.org/10.1038/s41436-018-0048-y
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
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17Academic Journal
المؤلفون: Haijes, HA, Koster, MJE, Rehmann, H, Li, D, Hakonarson, H, Cappuccio, G, Hancarova, M, Lehalle, D, Reardon, W, Schaefer, G B, Lehman, A, De Graaf - van de Laar, Ingrid, Tesselaar, CD, Turner, C, Goldenberg, A, Patrier, S, Thevenon, J, Pinelli, M, Brunetti-Pierri, N, Prchalova, D, Havlovicova, M, Vlckova, M, Sedlacek, Z, Lopez, E, Ragoussis, V, Pagnamenta, AT, Kini, U, Vos, HR, van Es, RM, Schaik, R, van Essen, TAJ, Kibaek, M, Taylor, JC, Sullivan, J, Shashi, V, Petrovski, S, Fagerberg, C, Martin, DM, van Gassen, K L I, Pfundt, R, Falk, MJ, McCormick, E M, Timmers, HTM, van Hasselt, PM
المصدر: Haijes , HA , Koster , MJE , Rehmann , H , Li , D , Hakonarson , H , Cappuccio , G , Hancarova , M , Lehalle , D , Reardon , W , Schaefer , G B , Lehman , A , De Graaf - van de Laar , I , Tesselaar , CD , Turner , C , Goldenberg , A , Patrier , S , Thevenon , J , Pinelli , M , Brunetti-Pierri , N , Prchalova , D , Havlovicova , M , Vlckova , M , Sedlacek , Z , Lopez ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
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18Academic Journal
المؤلفون: Machol, K, Rousseau, J, Ehresmann, S, Garcia, T, Nguyen, TTM, Spillmann, RC, Sullivan, JA, Shashi, V, Jiang, YH, Stong, N, Fiala, E, Willing, M, Pfundt, R, Kleefstra, T, Cho, M T, McLaughlin, H, Piera, MR, Orellana, C, Martinez, F, Caro-Llopis, A, Monfort, S, Roscioli, T, Nixon, CY, Buckley, MF, Turner, A, Jones, WD, van Hasseit, PM, Hofstede, FC, van Gassen, K L I, Brooks, Alice, van Slegtenhorst, Marjon, Lachlan, K, Sebastian, J, Madan-Khetarpal, S, Sonal, D, Sakkubai, N, Thevenon, J, Faivre, L, Maurel, A, Petrovski, S, Krantz, ID, Tarpinian, JM, Rosenfeld, JA, Lee, BH, Campeau, PM, Adams, DR, Alejandro, ME, Allard, P, Azamian, MS, Bacino, CA, Balasubramanyam, A, Barseghyan, H, Batzli, GF, Beggs, AH, Behnam, B, Bican, A, Bick, DP, Birch, CL, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Chen, S, Clark, GD, Coakley, TR, Cogan, JD, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Davids, M, Dayal, JG, Dell'Angelica, EC, Dhar, SU, Dillon, A, Dipple, KM, Donnell-Fink, LA, Dorrani, N, Dorset, DC, Douine, ED, Draper, DD, Eckstein, DJ, Emrick, LT, Eng, CM, Eskin, A, Esteves, C, Estwick, T, Ferreira, C, Fogel, BL, Friedman, ND, Gahl, WA, Glanton, E, Godfrey, RA, Goldstein, DB, Gould, SE, Gourdine, JPF, Groden, CA, Gropman, AL, Haendel, M, Hamid, R, Hanchard, NA, Handley, LH, Herzog, MR, Holm, IA, Hom, J, Howerton, EM, Huang, Y, Jacob, HJ, Jain, M, Johnston, JM, Jones, AL, Kohane, IS, Krasnewich, DM, Krieg, EL, Krier, JB, Lalani, SR, Lalani, Lau, CC, Lazar, J, Lee, H, Levy, SE, Lewis, RA, Lincoln, SA, Lipson, A, Loo, SK, Loscalzo, J, Maas, RL, Macnamara, EF, MacRae, CA, Maduro, VV, Majcherska, MM, Malicdan, MCV, Mamounas, LA, Manolio, TA, Markello, TC, Marom, R, Martinez-Agosto, JA, Marwaha, S, May, T, McConkie-Rosell, A, McCormack, CE, McCray, AT, Might, M, Moretti, PM, Morimoto, M, Mulvihill, JJ, Murphy, JL, Muzny, DM, Nehrebecky, ME, Nelson, SF, Newberry, JS, Newman, JH, Nicholas, SK, Novacic, D, Orange, JS, Pallais, JC, Palmer, CGS, Papp, JC, Parker, NH, Pena, LDM, Phillips, JA, Posey, JE, Postlethwait, JH, Potocki, L, Pusey, BN, Reuter, CM, Robertson, AK, Rodan, LH, Sampson, JB, Samson, SL, Schoch, K, Schroeder, MC, Scott, DA, Sharma, P, Signer, R, Silverman, EK, Sinsheimer, JS, Smith, KS, Splinter, K, Stoler, JM, Sweetser, DA, Tifft, CJ, Toro, C, Tran, AA, Urv, TK, Valivullah, ZM, Vilain, E, Vogel, TP, Wahl, CE, Walley, NM, Walsh, CA, Ward, PA, Waters, KM, Westerfield, M, Wise, AL, Wolfe, LA, Worthey, EA, Yamamoto, S, Yang, YP, Yu, GY, Zastrow, DB, Zheng, A
المصدر: Machol , K , Rousseau , J , Ehresmann , S , Garcia , T , Nguyen , TTM , Spillmann , RC , Sullivan , JA , Shashi , V , Jiang , YH , Stong , N , Fiala , E , Willing , M , Pfundt , R , Kleefstra , T , Cho , M T , McLaughlin , H , Piera , MR , Orellana , C , Martinez , F , Caro-Llopis , A , Monfort , S , Roscioli , T , Nixon , CY , Buckley , MF , Turner , ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
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19Academic Journal
المؤلفون: Philips A. K., Pinelli M., de Bie C. I., Mustonen A., Maatta T., Arts H. H., Wu K., Roepman R., Moilanen J. S., Raza S., Varilo T., Scala G., Cocozza S., Gilissen C., van Gassen K. L. I., Jarvela I.
المساهمون: Philips, A. K., Pinelli, M., de Bie, C. I., Mustonen, A., Maatta, T., Arts, H. H., Wu, K., Roepman, R., Moilanen, J. S., Raza, S., Varilo, T., Scala, G., Cocozza, S., Gilissen, C., van Gassen, K. L. I., Jarvela, I.
مصطلحات موضوعية: C12orf4, founder effect, frameshift variant, intellectual disability, missense variant, whole exome sequencing, Aged, Amino Acid Sequence, Base Sequence, Child, Consanguinity, Exome, Family Health, Female, Finland, Genes, Recessive, Genetic Predisposition to Disease, Genotype, Geography, Human, Intracellular Signaling Peptides and Protein, Male, Netherland, Pedigree, Sequence Analysis, DNA, Sequence Homology, Amino Acid, Mutation
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000393979600013; volume:91; issue:1; firstpage:100; lastpage:105; numberofpages:6; journal:CLINICAL GENETICS; http://hdl.handle.net/11588/776247; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84978880704; http://www.blackwellpublishing.com/aims.asp?ref=0009-9163?site=1
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20Academic Journal
المؤلفون: Kievit, Anneke, Tessadori, F, Douben, Hannie, Jordens, I, Maurice, M, Hoogeboom, Jeannette, Hennekam, R, Nampoothiri, S, Kayserili, H, Castori, M, Whiteford, M, Motter, C, Melver, C, Cunningham, M, Hing, A, Kokitsu-Nakata, NM, Vendramini-Pittoli, S, Richieri-Costa, A, Baas, AF, Breugem, CC, Duran, K, Massink, M, Derksen, PWB, van Ijcken, Wilfred, Unen, Leontine, Santos-Simarro, F, Lapunzina, P, Lopes, V, Lustosa-Mendes, E, Krall, M, Slavotinek, A, Martinez-Glez, V, Bakkers, J, van Gassen, K L I, de Klein, Annelies, van den Boogaard, MJH, van Haaften, G
المصدر: Kievit , A , Tessadori , F , Douben , H , Jordens , I , Maurice , M , Hoogeboom , J , Hennekam , R , Nampoothiri , S , Kayserili , H , Castori , M , Whiteford , M , Motter , C , Melver , C , Cunningham , M , Hing , A , Kokitsu-Nakata , NM , Vendramini-Pittoli , S , Richieri-Costa , A , Baas , AF , Breugem , CC , Duran , K , Massink , M , Derksen , PWB , van Ijcken , W , Unen , ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01
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