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1Academic Journal
المؤلفون: Denommé-Pichon, A.S., Collins, S.C., Bruel, A.L., Mikhaleva, A., Wagner, C., Vancollie, V.E., Thomas, Q., Chevarin, M., Weber, M., Prada, C.E., Overs, A., Palomares-Bralo, M., Santos-Simarro, F., Pacio-Míguez, M., Busa, T., Legius, E., Bacino, C.A., Rosenfeld, J.A., Le Guyader, G., Egloff, M., Le Guillou, X., Mencarelli, M.A., Renieri, A., Grosso, S., Levy, J., Dozières, B., Desguerre, I., Vitobello, A., Duffourd, Y., Lelliott, C.J., Thauvin-Robinet, C., Philippe, C., Faivre, L., Yalcin, B.
المصدر: Genetics in medicine, vol. 25, no. 7, pp. 100835
مصطلحات موضوعية: Humans, Animals, Mice, Brain/abnormalities, Lissencephaly/genetics, Neurodevelopmental Disorders, Classical Lissencephalies and Subcortical Band Heterotopias, Intellectual Disability/genetics, 14-3-3 Proteins/genetics, 14-3-3, Brain abnormalities, Miller-Dieker syndrome, YWHAE
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/36999555; info:eu-repo/semantics/altIdentifier/eissn/1530-0366; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_1608AF26CE533; https://serval.unil.ch/notice/serval:BIB_1608AF26CE53; https://serval.unil.ch/resource/serval:BIB_1608AF26CE53.P001/REF.pdf
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2Academic Journal
المؤلفون: Isidor B., Ebstein F., Hurst A., Vincent M., Bader I., Rudy N.L., Cogne B., Mayr J., Brehm A., Bupp C., Warren K., Bacino C.A., Gerard A., Ranells J.D., Metcalfe K.A., van Bever Y., Jiang Y.-H., Mendelssohn B.A., Cope H., Rosenfeld J.A., Blackburn P.R., Goodenberger M.L., Kearney H.M., Kennedy J., Scurr I., Szczaluba K., Ploski R., de Saint Martin A., Alembik Y., Piton A., Bruel A.-L., Thauvin-Robinet C., Strong A., Diderich K.E.M., Bourgeois D., Dahan K., Vignard V., Bonneau D., Colin E., Barth M., Camby C., Baujat G., Briceño I., Gómez A., Deb W., Conrad S., Besnard T., Bézieau S., Krüger E., Küry S., Stankiewicz P.
المصدر: Universidad de La Sabana ; Intellectum Repositorio Universidad de La Sabana
مصطلحات موضوعية: Intellectual disability, Interferon, Proteasome, PSMD12, Thumb
وصف الملف: application/pdf
Relation: Genetics in Medicine Vol. 24 N° 1 p. 179-191; Isidor, B., Ebstein, F., Hurst, A., Vincent, M., Bader, I., Rudy, N.L., Cogne, B., Mayr, J., Brehm, A., Bupp, C., Warren, K., Bacino, C.A., Gerard, A., Ranells, J.D., Metcalfe, K.A., van Bever, Y., Jiang, Y.-H., Mendelssohn, B.A., Cope, H., Rosenfeld, J.A., Blackburn, P.R., Goodenberger, M.L., Kearney, H.M., Kennedy, J., Scurr, I., Szczaluba, K., Ploski, R., de Saint Martin, A., Alembik, Y., Piton, A., Bruel, A.-L., Thauvin-Robinet, C., Strong, A., Diderich, K.E.M., Bourgeois, D., Dahan, K., Vignard, V., Bonneau, D., Colin, E., Barth, M., Camby, C., Baujat, G., Briceño, I., Gómez, A., Deb, W., Conrad, S., Besnard, T., Bézieau, S., Krüger, E., Küry, S., Stankiewicz, P. Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype (2022) Genetics in Medicine, 24 (1), pp. 179-191; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85122377883&doi=10.1016%2fj.gim.2021.09.005&partnerID=40&md5=613a289df9d6c08f673e5d48e6e8942c; http://hdl.handle.net/10818/60077
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3Academic Journal
المؤلفون: Paul, M.S., Michener, S.L., Pan, H., Chan, H., Pfliger, J.M., Rosenfeld, J.A., Lerma, V.C., Tran, A., Longley, M.A., Lewis, R.A., Weisz-Hubshman, M., Bekheirnia, M.R., Bekheirnia, N., Massingham, L., Zech, M., Wagner, M., Engels, H., Cremer, K., Mangold, E., Peters, S., Trautmann, J., Mester, J.L., Guillen Sacoto, M.J., Person, R., McDonnell, P.P., Cohen, S.R., Lusk, L., Cohen, A.S.A., Le Pichon, J.B., Pastinen, T., Zhou, D., Engleman, K., Racine, C., Faivre, L., Moutton, S., Denommé-Pichon, A.S., Koh, H.Y., Poduri, A., Bolton, J.L., Knopp, C., Julia Suh, D.S., Maier, A., Toosi, M.B., Karimiani, E.G., Maroofian, R., Schaefer, G.B., Ramakumaran, V.S., Vasudevan, P., Prasad, C., Osmond, M., Schuhmann, S., Vasileiou, G., Russ-Hall, S., Scheffer, I.E., Carvill, G.L., Mefford, H.C., Bacino, C.A., Lee, B.H., Chao, H.T.
المصدر: Am. J. Hum. Genet. 111, 96-118 (2024)
مصطلحات موضوعية: Mendelian Phenotypes, Active Zone Protein, Fruit Flies, Neurodevelopmental Disorder, Synaptic Protein
Relation: info:eu-repo/semantics/altIdentifier/pmid/38181735; info:eu-repo/semantics/altIdentifier/wos/001154201800001; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics/alt
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4Academic Journal
المؤلفون: Li, C., Beauregard-Lacroix, E., Kondratev, C., Rousseau, J., Heo, A.J., Neas, K., Graham, B.H., Rosenfeld, J.A., Bacino, C.A., Wagner, M., Wenzel, M., Al Mutairi, F., Al Deiab, H., Gleeson, J.G., Stanley, V., Zaki, M.S., Kwon, Y.T., Leroux, M.R., Campeau, P.M.
المصدر: Am. J. Hum. Genet. 108, 134-147 (2021)
مصطلحات موضوعية: Epigenetic, Epilepsy, Hypothyroidism, Kat6b, Notch, Ptosis, Ubr-5, Ubr-7, Ubr5, Ubr7
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/33340455; info:eu-repo/semantics/altIdentifier/wos/WOS:000606453800011; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60979; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
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5Academic Journal
المؤلفون: Burrage, L.C., Reynolds, J.J., Baratang, N.V., Phillips, J.B., Wegner, J., McFarquhar, A., Higgs, M.R., Christiansen, A.E., Lanza, D.G., Seavitt, J.R., Jain, M., Li, X., Parry, D.A., Raman, V., Chitayat, D., Chinn, I.K., Bertuch, A.A., Karaviti, L., Schlesinger, A.E., Earl, D., Bamshad, M., Savarirayan, R., Doddapaneni, H., Muzny, D., Jhangiani, S.N., Eng, C.M., Gibbs, R.A., Bi, W., Emrick, L., Rosenfeld, J.A., Postlethwait, J., Westerfield, M., Dickinson, M.E., Beaudet, A.L., Ranza, E., Huber, C., Cormier-Daire, V., Shen, W., Mao, R., Heaney, J.D., Orange, J.S., University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, Bertola, D., Yamamoto, G.L., Baratela, W.A.R., Butler, M.G., Ali, A., Adeli, M., Cohn, D.H., Krakow, D., Jackson, A.P., Lees, M., Offiah, A.C., Carlston, C.M., Carey, J.C., Stewart, G.S., Bacino, C.A., Campeau, P.M., Lee, B.
وصف الملف: text; image
Relation: https://eprints.whiterose.ac.uk/142839/45/TONSL%20v30-1.pdf; https://eprints.whiterose.ac.uk/142839/11/Figure%202.tif; https://eprints.whiterose.ac.uk/142839/20/Figure%203.tif; https://eprints.whiterose.ac.uk/142839/25/Figure%204.tif; https://eprints.whiterose.ac.uk/142839/35/Figure%205.tif; https://eprints.whiterose.ac.uk/142839/36/Figure%206.tif; Burrage, L.C., Reynolds, J.J., Baratang, N.V. et al. (57 more authors) (2019) Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes. American Journal of Human Genetics, 104 (3). pp. 422-438. ISSN 0002-9297
الاتاحة: https://eprints.whiterose.ac.uk/142839/
https://eprints.whiterose.ac.uk/142839/45/TONSL%20v30-1.pdf
https://eprints.whiterose.ac.uk/142839/11/Figure%202.tif
https://eprints.whiterose.ac.uk/142839/20/Figure%203.tif
https://eprints.whiterose.ac.uk/142839/25/Figure%204.tif
https://eprints.whiterose.ac.uk/142839/35/Figure%205.tif
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6Academic Journal
المؤلفون: Niggl, E., Bouman, A., Briere, L.C., Hoogenboezem, R.M., Wallaard, I., Park, J., Admard, J., Wilke, M., Harris-Mostert, E.D.R.O., Elgersma, M., Bain, J., Balasubramanian, M., Banka, S., Benke, P.J., Bertrand, M., Blesson, A.E., Clayton-Smith, J., Ellingford, J.M., Gillentine, M.A., Goodloe, D.H., Haack, T.B., Jain, M., Krantz, I., Luu, S.M., McPheron, M., Muss, C.L., Raible, S.E., Robin, N.H., Spiller, M., Starling, S., Sweetser, D.A., Thiffault, I., Vetrini, F., Witt, D., Woods, E., Zhou, D., Elgersma, Y., van Esbroeck, A.C.M., Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Acosta, M.T., Adams, D.R., Alvarez, R.L., Alvey, J., Allworth, A., Andrews, A., Ashley, E.A., Afzali, B., 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., Bennet, J., Bernstein, J.A., Berry, G.T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonner, D., Botto, L., 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., Chanprasert, S., Chao, H.-T., Chinn, I., Clark, G.D., Coakley, T.R., Cobban, L.A., Cogan, J.D., Coggins, M., Cole, F.S., Colley, H.A., Cope, H., Corona, R., Craigen, W.J., Crouse, A.B., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davis, J., Dayal, J.G., Delgado, M., 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., Fu, J., Gahl, W.A., Glass, I., Goddard, P.C., Godfrey, R.A., Grajewski, A., Halley, M.C., Hamid, R., Hanchard, N., Hassey, K., Hayes, N., High, F., Hing, A., Hisama, F.M., Holm, I.A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Hutchison, S., Introne, W., Isasi, R., Izumi, K., Jarvik, G.P., Jarvik, J., Jayadev, S., Jean-Marie, O., Jobanputra, V., Kaitryn, E., Ketkar, S., Kiley, D., Kilich, G., Kobren, S.N., Kohane, I.S., Kohler, J.N., Korrick, S., 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., Mamounas, L.A., Manolio, T.A., Mao, R., Marom, R., Marth, G., Martin, B.A., Martin, M.G., Martínez-Agosto, J.A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCray, A.T., McGee, E., Might, M., Miller, D., Mirzaa, G., Morava, E., Moretti, P., Morimoto, M., Mulvihill, J.J., Nakano-Okuno, M., Nelson, S.F., Nieves-Rodriguez, S., Novacic, D., Oglesbee, D., Orengo, J.P., Pace, L., Pak, S., Pallais, J.C., Papp, J.C., Parker, N.H., Petcharet, L., Phillips, J.A., Posey, J.E., Potocki, L., Swerdzewski, B.N., Quinlan, A., Rao, D.A., Raper, A., Raskind, W., Renteria, G., Reuter, C., Rives, L., Robertson, A.K., Rodan, L.H., Rosenfeld, J.A., Rosenthal, E., Rossignol, F., Ruzhnikov, M., Sabaii, M., Sacco, R., Sampson, J.B., Saporta, M., Schaechter, J., Schedl, T., Schoch, K., Scott, D.A., Seto, E., Sharma, P., Shashi, V., Shelkowitz, E., Sheppeard, S., Shin, J., Silverman, E., Sinsheimer, J., Sisco, K., Smith, E., Smith, K., Solnica-Krezel, L., Solomon, B., Spillmann, R., Stergachis, A., Stoler, J., Sullivan, K., Sullivan, J., Sutton, S., Sybert, V., Tabor, H.K., Tan, Q.K.-G., Tan, A.L., Tarakad, A., Tekin, M., Telischi, F., Thorson, W., Tifft, C., 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., Walley, N.M., Wambach, J., Wan, J., Wang, L.-K., Wangler, M.F., Ward, P.A., Wegner, D., Weisz, M., Wener, M., Wenger, T., Westerfield, M., Wheeler, M.T., Whitlock, J., Wolfe, L.A., Yamamoto, S., Zhang, Z., Zuchner, S.
Relation: Niggl, E. orcid.org/0000-0002-5654-8425 , Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297
الاتاحة: https://eprints.whiterose.ac.uk/208871/
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7Academic Journal
المؤلفون: Gillentine, M.A., Wang, T., Hoekzema, K., Rosenfeld, J., Liu, P, Guo, H, Kim, C.N., Vries, B.B. de, 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, F., 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., Gassen, K.L.I. van, 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.
المصدر: Genome Medicine, 13, 1
مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/245103/245103.pdf; https://repository.ubn.ru.nl/handle/2066/245103; https://doi.org/10.1186/s13073-021-00870-6
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8Academic Journal
المؤلفون: Stankiewicz, P., Kulkarni, S., Dharmadhikari, A.V., Sampath, S., Bhatt, S.S., Shaikh, T.H., Xia, Z., Pursley, A.N., Cooper, M.L., Shinawi, M., Paciorkowski, A.R., Grange, D.K., Noetzel, M.J., Saunders, S., Simons, P., Summar, M., Lee, B., Scaglia, F., Fellmann, F., Martinet, D., Beckmann, J.S., Asamoah, A., Platky, K., Sparks, S., Martin, A.S., Madan-Khetarpal, S., Hoover, J., Medne, L., Bonnemann, C.G., Moeschler, J.B., Vallee, S.E., Parikh, S., Irwin, P., Dalzell, V.P., Smith, W.E., Banks, V.C., Flannery, D.B., Lovell, C.M., Bellus, G.A., Golden-Grant, K., Gorski, J.L., Kussmann, J.L., McGregor, T.L., Hamid, R., Pfotenhauer, J., Ballif, B.C., Shaw, C.A., Kang, S.H., Bacino, C.A., Patel, A., Rosenfeld, J.A., Cheung, S.W., Shaffer, L.G.
المصدر: Human Mutation, vol. 33, no. 1, pp. 165-179
مصطلحات موضوعية: Abnormalities, Multiple/genetics, Child, Preschool, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 10, DNA Copy Number Variations, Developmental Disabilities/complications, Developmental Disabilities/genetics, Female, Genetic Variation, Homologous Recombination, Humans, In Situ Hybridization, Fluorescence, Infant, Intellectual Disability/complications, Intellectual Disability/genetics, Male, Nerve Growth Factors/genetics, Oligonucleotide Array Sequence Analysis, Penetrance, Segmental Duplications, Genomic/genetics, Sequence Deletion, Vesicular Acetylcholine Transport Proteins/genetics
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/21948486; info:eu-repo/semantics/altIdentifier/eissn/1098-1004; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_821E7FE324C61; https://serval.unil.ch/notice/serval:BIB_821E7FE324C6; https://serval.unil.ch/resource/serval:BIB_821E7FE324C6.P001/REF.pdf
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9Academic Journal
المؤلفون: Asselin, L., Alvarez, J., Heide, S. van der, Bonnet, C.S., Tilly, P., Vitet, H., Weber, C., Bacino, C.A., Baranaño, K., Chassevent, A., Dameron, A., Faivre, L., Hanchard, N.A., Mahida, S., K., M., Mignot, C., Nava, C., Rastetter, A., Streff, H., Thauvin-Robinet, C., Weiss, M.M., Zapata, G., Zwijnenburg, P.J., F., S., Depienne, C., Golzio, C., Héron, D., Godin, J.D.
المصدر: Nature Communications, 11, 1, pp. 1-18
مصطلحات موضوعية: Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences
Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/220453/220453.pdf; https://hdl.handle.net/2066/220453; https://doi.org/10.1038/s41467-020-16294-6
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10Academic Journal
المؤلفون: Scott, T.M., Guo, H, Eichler, E.E., Rosenfeld, J.A., Pang, K., Liu, Z, Lalani, S., Bi, W., Yang, Y., Bacino, C.A., Streff, H., Lewis, A.M., Koenig, M.K., Thiffault, I., Bellomo, A., Everman, D.B., Jones, J.R., Stevenson, R.E., Bernier, R., Gilissen, C.F., Pfundt, R.P., Hiatt, S.M., Cooper, G.M., Holder, J.L., Scott, D.A.
المصدر: Human Mutation, 41, 5, pp. 921-925
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11Academic Journal
المؤلفون: Johnson, B.V., Kumar, R., Oishi, S., Alexander, S., Kasherman, M., Vega, M.S., Ivancevic, A., Gardner, A., Domingo, D., Corbett, M., Parnell, E., Yoon, S., Oh, T., Lines, M., Lefroy, H., Kini, U., Allen, M. van, Gronborg, S., Mercier, S., Kury, S., Bezieau, S., Pasquier, L., Raynaud, M., Afenjar, A., Villemeur, T.B. de, Keren, B., Desir, J., Maldergem, L. van, Marangoni, M., Dikow, N., Koolen, D.A., VanHasselt, P.M., Weiss, M., Zwijnenburg, P., Sa, J., Reis, C.F., Lopez-Otin, C., Santiago-Fernandez, O., Fernandez-Jaen, A., Rauch, A., Steindl, K., Joset, P., Goldstein, A., Madan-Khetarpal, S., Infante, E., Zackai, E., Mcdougall, C., Narayanan, V., Ramsey, K., Mercimek-Andrews, S., Pena, L., Shashi, V., Schoch, K., Sullivan, J.A., Vairo, F.P.E., Pichurin, P.N., Ewing, S.A., Barnett, S.S., Klee, E.W., Perry, M.S., Koenig, M.K., Keegan, C.E., Schuette, J.L., Asher, S., Perilla-Young, Y., Smith, L.D., Rosenfeld, J.A., Bhoj, E., Kaplan, P., Li, D., Oegema, R., Binsbergen, E. van, Zwaag, B. van der, Smeland, M.F., Cutcutache, I., Page, M., Armstrong, M., Lin, A.E., Steeves, M.A., Hollander, N. den, Hoffer, M.J.V., Reijnders, M.R.F., Demirdas, S., Koboldt, D.C., Bartholomew, D., Mosher, T.M., Hickey, S.E., Shieh, C., Sanchez-Lara, P.A., Graham, J.M., Tezcan, K., Schaefer, G.B., Danylchuk, N.R., Asamoah, A., Jackson, K.E., Yachelevich, N., Au, M., Perez-Jurado, L.A., Kleefstra, T., Penzes, P., Wood, S.A., Burne, T., Pierson, T.M., Piper, M., Gecz, J., Jolly, L.A., Acosta, M.T., Adams, D.R., Aday, A., Alejandro, M.E., Allard, P., Ashley, E.A., Azamian, M.S., Bacino, C.A., Bademci, G., Baker, E., Balasubramanyam, A., Baldridge, D., Barbouth, D., Batzli, G.F., Beggs, A.H., Bellen, H.J., Bernstein, J.A., Berry, G.T., Bican, A., Bick, D.P., Birch, C.L., Bivona, S., Bonnenmann, C., Bonner, D., Boone, B.E., Bostwick, B.L., Briere, L.C., Brokamp, E., Brown, D.M., Brush, M., Burke, E.A., Burrage, L.C., Butte, M.J., Carrasquillo, O., Chang, T.C.P., Chao, H.T., Clark, G.D., Coakley, T.R., Cobban, L.A., Cogan, J.D., Cole, F.S., Colley, H.A., Cooper, C.M., Cope, H., Craigen, W.J., D'Souza, P., Dasari, S., Davids, M., Davidson, J.M., Dayal, J.G., Dell'Angelica, E.C., Dhar, S.U., Dorrani, N., Dorset, D.C., Douine, E.D., Draper, D.D., Dries, A.M., Duncan, L., Eckstein, D.J., Emrick, L.T., Eng, C.M., Enns, G.M., Esteves, C., Estwick, T., Fernandez, L., Ferreira, C., Fieg, E.L., Fisher, P.G., Fogel, B.L., Forghani, I., Friedman, N.D., Gahl, W.A., Godfrey, R.A., Goldman, A.M., Goldstein, D.B., Gourdine, J.P.F., Grajewski, A., Groden, C.A., Gropman, A.L., Haendel, M., Hamid, R., Hanchard, N.A., High, F., Holm, I.A., Hom, J., Huang, A., Huang, Y., Isasi, R., Jamal, F., Jiang, Y.H., Johnston, J.M., Jones, A.L., Karaviti, L., Kelley, E.G., Koeller, D.M., Kohane, I.S., Kohler, J.N., Krakow, D., Krasnewich, D.M., Korrick, S., Koziura, M., Krier, J.B., Kyle, J.E., Lalani, S.R., Lam, B., Lanpher, B.C., Lanza, I.R., Lau, C.C., Lazar, J., LeBlanc, K., Lee, B.H., Lee, H., Levitt, R., Levy, S.E., Lewis, R.A., Lincoln, S.A., Liu, P.F., Liu, X.Z., Loo, S.K., Loscalzo, J., Maas, R.L., Macnamara, E.F., MacRae, C.A., Maduro, V.V., Majcherska, M.M., Malicdan, M.C.V., Mamounas, L.A., Manolio, T.A., Markello, T.C., Marom, R., Martin, M.G., Martinez-Agosto, J.A., Marwaha, S., May, T., McCauley, J., McConkie-Rosell, A., McCormack, C.E., McCray, A.T., Merker, J.D., Metz, T.O., Might, M., Morava-Kozicz, E., Moretti, P.M., Morimoto, M., Mulvihill, J.J., Murdock, D.R., Nath, A., Nelson, S.F., Newberry, J.S., Newman, J.H., Nicholas, S.K., Novacic, D., Oglesbee, D., Orengo, J.P., Pak, S., Pallais, J.C., Palmer, C.G.S., Papp, J.C., Parker, N.H., Phillips, J.A., Posey, J.E., Postlethwait, J.H., Potocki, L., Pusey, B.N., Renteri, G., Reuter, C.M., Rives, L., Robertson, A.K., Rodan, L.H., Rowley, R.K., Sacco, R., Sampson, J.B., Samson, S.L., Saporta, M., Schaechter, J., Schedl, T., Scott, D.A., Shakachite, L., Sharma, P., Shields, K., S
المصدر: Biological Psychiatry
مصطلحات موضوعية: Brain malformation, Deubiquitylating enzyme, Hippocampus, Neurodevelopmental disorder, TGF beta, USP9X
وصف الملف: application/pdf
Relation: https://www.sciencedirect.com/science/article/pii/S0006322319314799?via%3Dihub; lumc-id: 81345414; https://hdl.handle.net/1887/3181481
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12Academic Journal
المؤلفون: Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P.R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A.C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S., Sacoto, M.G.J., Schnur, R.E., Zhu, Z.H., Poisson, A., Chehadeh, S. el, Alembik, Y., Bruel, A.L., Lehalle, D., Nambot, S., Moutton, S., Odent, S., Jaillard, S., Dubourg, C., Hilhorst-Hofstee, Y., Barbaro-Dieber, T., Ortega, L., Bhoj, E.J., Masser-Frye, D., Bird, L.M., Lindstrom, K., Ramsey, K.M., Narayanan, V., Fassi, E., Willing, M., Cole, T., Salter, C.G., Akilapa, R., Vandersteen, A., Canham, N., Rump, P., Gerkes, E.H., Wassink-Ruiter, J.K.S., Bijlsma, E., Hoffer, M.J.V., Vargas, M., Wojcik, A., Cherik, F., Francannet, C., Rosenfeld, J.A., Machol, K., Scott, D.A., Bacino, C.A., Wang, X., Clark, G.D., Bertoli, M., Zwolinski, S., Thomas, R.H., Akay, E., Chang, R.H.C., Bressi, R., Russo, R.S., Srour, M., Russell, L., Goyette, A.M.E., Dupuis, L., Mendoza-Londono, R., Karimov, C., Joseph, M., Nizon, M., Cogne, B., Kuechler, A., Piton, A., Klee, E.W., Lefebvre, V., Clark, K.J., Depienne, C., Deciphering Dev Disorder Study
المصدر: Genetics in Medicine
مصطلحات موضوعية: autism, developmental delay, intellectual disability, epilepsy, missense variants
وصف الملف: application/pdf
Relation: https://www.sciencedirect.com/science/article/pii/S1098360021012363?via%3Dihub; lumc-id: 112023180; https://hdl.handle.net/1887/3184942
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13Academic Journal
المؤلفون: Roelfsema, J.H., White, S.J., Ariyürek, Y., Bartholdi, D., Niedrist, D., Papadia, F., Bacino, C.A., den Dunnen, J.T., van Ommen, G.-J.B., Breuning, M.H., Hennekam, R.C., Peters, D.J.M.
المصدر: Roelfsema , J H , White , S J , Ariyürek , Y , Bartholdi , D , Niedrist , D , Papadia , F , Bacino , C A , den Dunnen , J T , van Ommen , G-JB , Breuning , M H , Hennekam , R C & Peters , D J M 2005 , ' Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease ' , American Journal of Human Genetics , vol. 76 , no. 4 , pp. 572-580 . https://doi.org/10.1086/429130
وصف الملف: application/pdf
Relation: https://dare.uva.nl/personal/pure/en/publications/genetic-heterogeneity-in-rubinsteintaybi-syndrome-mutations-in-both-the-cbp-and-ep300-genes-cause-disease(c3f0ef85-040f-4f5c-a9dd-47c7de83b6b6).html
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14Academic Journal
المؤلفون: Stankiewicz, P., Khan, T.N., Szafranski, P., Slattery, L., Streff, H., Vetrini, F., Bernstein, J.A., Brown, C.W., Rosenfeld, J.A., Rednam, S., Scollon, S., Bergstrom, K.L., Parsons, D.W., Plon, S.E., Vieira, M.W., Quaio, C., Baratela, W.A.R., Guio, J.C.A., Armstrong, R., Mehta, S.G., Rump, P., Pfundt, R.P., Lewandowski, R., Fernandes, E.M., Shinde, D.N., Tang, S., Hoyer, J., Zweier, C., Reis, A., Bacino, C.A., Xiao, R., Breman, A.M., Smith, J.L., Katsanis, N., Bostwick, B., Popp, B., Davis, E.E., Yang, Y
المصدر: American Journal of Human Genetics, 101, 4, pp. 503-515
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15Academic Journal
المؤلفون: Hamdan, F.F., Myers, C.T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A.D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., Dobrzeniecka, S., Meloche, C., Retterer, K., Cho, M.T., Rosenfeld, J.A., Bi, W., Massicotte, C., Miguet, M., Brunga, L., Regan, B.M., Mo, K., Tam, C., Schneider, A., Hollingsworth, G., FitzPatrick, D.R., Donaldson, A., Canham, N., Blair, E., Kerr, B., Fry, A.E., Thomas, R.H., Shelagh, J., Hurst, J.A., Brittain, H., Blyth, M., Lebel, R.R., Gerkes, E.H., Davis-Keppen, L., Stein, Q., Chung, W.K., Dorison, S.J., Benke, P.J., Fassi, E., Corsten-Janssen, N., Kamsteeg, E.J., Mau-Them, F.T., Bruel, A.L., Verloes, A., Ounap, K., Wojcik, M.H., Albert, D.V.F., Venkateswaran, S., Ware, T., Jones, D., Liu, Y.C., Mohammad, S.S., Bizargity, P., Bacino, C.A., Leuzzi, V., Martinelli, S., Dallapiccola, B., Tartaglia, M., Blumkin, L., Wierenga, K.J., Purcarin, G., O'Byrne, J.J., Stockler, S., Lehman, A., Keren, B., Nougues, M.C., Mignot, C., Auvin, S., Nava, C., Hiatt, S.M., Bebin, M., Shao, Y., Scaglia, F., Lalani, S.R., Frye, R.E., Jarjour, I.T., Jacques, S., Boucher, R.M., Riou, E., Srour, M., Carmant, L., Lortie, A., Major, P., Diadori, P., Dubeau, F., D'Anjou, G., Bourque, G., Berkovic, S.F., Sadleir, L.G., Campeau, P.M., Kibar, Z., Lafreniere, R.G., Girard, S.L., Mercimek-Mahmutoglu, S., Boelman, C., Rouleau, G.A.
المصدر: American Journal of Human Genetics, 101, 5, pp. 664-685
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16Academic Journal
المؤلفون: Fountain, M.D., Aten, E., Cho, M.T., Juusola, J., Walkiewicz, M.A., Ray, J.W., Xia, F., Yang, Y.P., Graham, B.H., Bacino, C.A., Potocki, L., Haeringen, A. van, Ruivenkamp, C.A.L., Mancias, P., Northrup, H., Kukolich, M.K., Weiss, M.M., Ravenswaaij-Arts, C.M.A. van, Mathijssen, I.B., Levesque, S., Meeks, N., Rosenfeld, J.A., Lemke, D., Hamosh, A., Lewis, S.K., Race, S., Stewart, L.L., Hay, B., Lewis, A.M., Guerreiro, R.L., Bras, J.T., Martins, M.P., Derksen-Lubsen, G., Peeters, E., Stumpel, C., Stegmann, S., Bok, L.A., Santen, G.W.E., Schaaf, C.P.
المصدر: Genetics in Medicine
مصطلحات موضوعية: MAGEL2, neurodevelopment, Prader-Willi syndrome, Schaaf-Yang syndrome
وصف الملف: application/pdf
Relation: lumc-id: 42456427; https://hdl.handle.net/1887/116286
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17Academic Journal
المؤلفون: Ehmke, N., Graul-Neumann, L., Smorag, L., Koenig, R., Segebrecht, L., Magoulas, P., Scaglia, F., Kilic, E., Hennig, A.F., Adolphs, N., Saha, N., Fauler, B., Kalscheuer, V.M., Hennig, F., Altmüller, J., Netzer, C., Thiele, H., Nürnberg, P., Yigit, G., Jäger, M., Hecht, J., Krüger, U., Mielke, T., Krawitz, P.M., Horn, D., Schuelke, M., Mundlos, S., Bacino, C.A., Bonnen, P.E., Wollnik, B., Fischer-Zirnsak, B., Kornak, U.
مصطلحات موضوعية: Technology Platforms
Relation: De novo mutations in SLC25A24 cause a craniosynostosis syndrome with hypertrichosis, progeroid appearance, and mitochondrial dysfunction. Ehmke, N. and Graul-Neumann, L. and Smorag, L. and Koenig, R. and Segebrecht, L. and Magoulas, P. and Scaglia, F. and Kilic, E. and Hennig, A.F. and Adolphs, N. and Saha, N. and Fauler, B. and Kalscheuer, V.M. and Hennig, F. and Altmüller, J. and Netzer, C. and Thiele, H. and Nürnberg, P. and Yigit, G. and Jäger, M. and Hecht, J. and Krüger, U. and Mielke, T. and Krawitz, P.M. and Horn, D. and Schuelke, M. and Mundlos, S. and Bacino, C.A. and Bonnen, P.E. and Wollnik, B. and Fischer-Zirnsak, B. and Kornak, U. American Journal of Human Genetics 101 (5): 833-843. 2 November 2017
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18Academic Journal
المؤلفون: Szafranski, P., Gambin, T., Dharmadhikari, A.V., Akdemir, K.C., Jhangiani, S.N., Schuette, J., Godiwala, N., Yatsenko, S.A., Sebastian, J., Madan-Khetarpal, S., Surti, U., Abellar, R.G., Bateman, D.A., Wilson, A.L., Markham, M.H., Slamon, J., Santos-Simarro, F., Palomares, M., Nevado, J., Lapunzina, P., Chung, B.H., Wong, W.L., Chu, Y.W., Mok, G.T., Kerem, E., Reiter, J., Ambalavanan, N., Anderson, S.A., Kelly, D.R., Shieh, J., Rosenthal, T.C., Scheible, K., Steiner, L., Iqbal, M.A., McKinnon, M.L., Hamilton, S.J., Schlade-Bartusiak, K., English, D., Hendson, G., Roeder, E.R., DeNapoli, T.S., Littlejohn, R.O., Wolff, D.J., Wagner, C.L., Yeung, A., Francis, D., Fiorino, E.K., Edelman, M., Fox, J., Hayes, D.A., Janssens, S., Baere, E. De, Menten, B., Loccufier, A., Vanwalleghem, L., Moerman, P., Sznajer, Y., Lay, A.S., Kussmann, J.L., Chawla, J., Payton, D.J., Phillips, G.E., Brosens, E., Tibboel, D., Klein, A., Maystadt, I., Fisher, R., Sebire, N., Male, A., Chopra, M., Pinner, J., Malcolm, G., Peters, G., Arbuckle, S., Lees, M., Mead, Z., Quarrell, O., Sayers, R., Owens, M., Shaw-Smith, C., Lioy, J., McKay, E., Leeuw, N. de, Feenstra, I., Spruijt, L., Elmslie, F., Thiruchelvam, T., Bacino, C.A., Langston, C., Lupski, J.R., Sen, P., Popek, E., Stankiewicz, P.
المصدر: Human Genetics, 135, 5, pp. 569-86
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19Academic Journal
المؤلفون: Kuechler, A., Willemsen, M.H., Albrecht, B., Bacino, C.A., Bartholomew, D.W., Bokhoven, H. van, Boogaard, M.J. van den, Bramswig, N., Buttner, C., Cremer, K., Czeschik, J.C., Engels, H., Gassen, K. van, Graf, E., Haelst, M. van, He, W., Hogue, J.S., Kempers, M., Koolen, D., Monroe, G., Munnik, S. de, Pastore, M., Reis, A., Reuter, M.S., Tegay, D.H., Veltman, J., Visser, G., Hasselt, P. van, Smeets, E., Vissers, L., Wieland, T., Wissink, W.M., Yntema, H., Zink, A.M., Strom, T.M., Ludecke, H.J., Kleefstra, T., Wieczorek, D.
المصدر: Human Genetics, 134, 1, pp. 97-109
مصطلحات موضوعية: Radboudumc 0: Other Research DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
Relation: http://hdl.handle.net/2066/154935
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20Academic Journal
المؤلفون: Bornstein, E., Berger, S., Cheung, S.W., Maliszewski, K.T., Bacino, C.A., Patel, A., Beaudet, A.L., Divon, M.Y.
المصدر: Ultrasound in Obstetrics & Gynecology ; volume 46, issue S1, page 11-11 ; ISSN 0960-7692 1469-0705
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