المؤلفون: Reijnders, Margot RF, Miller, Kerry A, Alvi, Mohsan, Goos, Jacqueline AC, Lees, Melissa M, de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert BA, Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia AL, Wieczorek, Dagmar, Study, The Deciphering Developmental Disorders, Baralle, Diana, Blair, Edward M, Engels, Hartmut, Lüdecke, Hermann-Josef, Eason, Jacqueline, Santen, Gijs WE, Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M, Cremer, Kirsten, Strom, Tim M, Bird, Lynne M, Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F, Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L, Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S, Edery, Patrick, Yap, Patrick, Terhal, Paulien A, van der Spek, Peter J, Lakeman, Phillis, Taylor, Rachel L, Littlejohn, Rebecca O, Pfundt, Rolph, Mercimek-Andrews, Saadet, Stegmann, Alexander PA, Kant, Sarina G, McLean, Scott, Joss, Shelagh, Swagemakers, Sigrid MA, Douzgou, Sofia, Wall, Steven A, Küry, Sébastien, Calpena, Eduardo, Koelling, Nils, McGowan, Simon J, Twigg, Stephen RF, Mathijssen, Irene MJ, Nellaker, Christoffer, Brunner, Han G, Wilkie, Andrew OM

المصدر: American Journal of Human Genetics. 102(6)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Biotechnology, Brain Disorders, Human Genome, Neurosciences, Clinical Research, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Base Sequence, Cell Line, Child, Child, Preschool, Facies, Female, Genetic Association Studies, Humans, Infant, Inheritance Patterns, Loss of Function Mutation, Male, Neurodevelopmental Disorders, Protein Kinases, RNA, Messenger, Translocation, Genetic, Young Adult, Deciphering Developmental Disorders Study, Tousled-like, facial averaging, haploinsufficiency, intellectual disability, kinase, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9sv477rxTest

المؤلفون: Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N, Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A, Craigen, William J, Sanders, Stephan J, Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T, Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G, Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A, Patel, Ankita, Smith, Janice L, Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M, Gibson, James B, Cogné, Benjamin, Lupski, James R, Stessman, Holly AF, Eichler, Evan E, Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A, Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand

المصدر: American Journal of Human Genetics. 100(2)

مصطلحات موضوعية: Biochemistry and Cell Biology, Bioinformatics and Computational Biology, Biological Sciences, Neurosciences, Congenital Structural Anomalies, Dental/Oral and Craniofacial Disease, Biotechnology, Genetics, Intellectual and Developmental Disabilities (IDD), Human Genome, Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Animals, Child, Child, Preschool, DNA Copy Number Variations, Disease Models, Animal, Down-Regulation, Female, Gene Deletion, Humans, Infant, Intellectual Disability, Male, Microcephaly, Neurodevelopmental Disorders, Polymorphism, Single Nucleotide, Proteasome Endopeptidase Complex, Zebrafish, PSMD12, RPN5, intellectual disability, proteasome 26S, syndromic neurodevelopmental disorder, ubiquitin, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4s2493nhTest

المؤلفون: Mochel, Fanny, Rastetter, Agnès, Ceulemans, Berten, Platzer, Konrad, Yang, Sandra, Shinde, Deepali N., Helbig, Katherine L., Lopergolo, Diego, Mari, Francesca, Renieri, Alessandra, Benetti, Elisa, Canitano, Roberto, Waisfisz, Quinten, Plomp, Astrid S., Huisman, Sylvia A., Wilson, Golder N., Cathey, Sara S, Louie, Raymond J., Del Gaudio, Daniela, Waggoner, Darrel, Kacker, Shawn, Nugent, Kimberly M., Roeder, Elizabeth R., Bruel, Ange-Line, Thevenon, Julien, Ehmke, Nadja, Abou Jamra, Rami, Weckhuysen, Sarah, Dalle, Carine, Depienne, Christel

المصدر: 0006-8950 ; Brain

مصطلحات موضوعية: Biology, Human medicine

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000615920000020

الإتاحة: https://doi.org/10.1093/BRAIN/AWAA346Test
https://hdl.handle.net/10067/1748100151162165141Test
https://repository.uantwerpen.be/docstore/d:irua:4625Test

المؤلفون: Assia Batzir, Nurit, Kishor Bhagwat, Pranjali, Larson, Austin, Coban Akdemir, Zeynep, Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Enchautegui Colon, Yazmin, Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Mar Fan, Helen, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Linda Rocha, Maria, Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld-Adams, James, Wells, Katerina O., Genomics, Baylor-Hopkins Center for Mendelian, Posey, Jennifer E., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.

المصدر: Assia Batzir , N , Kishor Bhagwat , P , Larson , A , Coban Akdemir , Z , Bagłaj , M , Bofferding , L , Bosanko , K B , Bouassida , S , Callewaert , B , Cannon , A , Enchautegui Colon , Y , Garnica , A D , Harr , M H , Heck , S , Hurst , A C , Jhangiani , S N , Isidor , B , Littlejohn , R O , Liu , P , Magoulas , P , Mar Fan , H , Marom , R , ....

مصطلحات موضوعية: ACTG2, dysmotility, megacystis-microcolon intestinal hypoperistalsis, smooth muscle, visceral myopathy

وصف الملف: application/pdf

العلاقة: https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-be37-06e0406e78f8Test

الإتاحة: https://doi.org/10.1002/humu.23960Test
https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-be37-06e0406e78f8Test
https://vbn.aau.dk/ws/files/315787027/Recurrent_Arginine_Substitutions_in_the_ACTG2_Gene_are_the_Primary_Driver_of_Disease_Burden_and_Severity_in_Visceral_Myopathy.pdfTest
http://www.scopus.com/inward/record.url?scp=85076797731&partnerID=8YFLogxKTest

المؤلفون: Reijnders, Margot R.F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A.C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B.A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A.L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Lüdecke, Hermann Josef, Eason, Jacqueline, Santen, Gijs W.E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Lakeman, Phillis, Taylor, Rachel L., The Deciphering Developmental Disorders Study

المساهمون: Genetica, Genetica Klinische Genetica, Child Health

مصطلحات موضوعية: facial averaging, haploinsufficiency, intellectual disability, kinase, Tousled-like, Genetics, Genetics(clinical)

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/377026Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/377026Test

المؤلفون: Reijnders, Margot R. F., Miller, Kerry A., Alvi, Mohsan, Goos, Jacqueline A. C., Lees, Melissa M., de Burca, Anna, Henderson, Alex, Kraus, Alison, Mikat, Barbara, de Vries, Bert B. A., Isidor, Bertrand, Kerr, Bronwyn, Marcelis, Carlo, Schluth-Bolard, Caroline, Deshpande, Charu, Ruivenkamp, Claudia A. L., Wieczorek, Dagmar, Baralle, Diana, Blair, Edward M., Engels, Hartmut, Ludecke, Hermann-Josef, Eason, Jacqueline, Santen, Gijs W. E., Clayton-Smith, Jill, Chandler, Kate, Tatton-Brown, Katrina, Payne, Katelyn, Helbig, Katherine, Radtke, Kelly, Nugent, Kimberly M., Cremer, Kirsten, Strom, Tim M., Bird, Lynne M., Sinnema, Margje, Bitner-Glindzicz, Maria, van Dooren, Marieke F., Alders, Marielle, Koopmans, Marije, Brick, Lauren, Kozenko, Mariya, Harline, Megan L., Klaassens, Merel, Steinraths, Michelle, Cooper, Nicola S., Edery, Patrick, Yap, Patrick, Terhal, Paulien A., van der Spek, Peter J., Stegmann, Alexander P. A., Brunner, Han G., Wilkie, Andrew O.M.

المصدر: Reijnders , M R F , Miller , K A , Alvi , M , Goos , J A C , Lees , M M , de Burca , A , Henderson , A , Kraus , A , Mikat , B , de Vries , B B A , Isidor , B , Kerr , B , Marcelis , C , Schluth-Bolard , C , Deshpande , C , Ruivenkamp , C A L , Wieczorek , D , Baralle , D , Blair , E M , Engels , H , Ludecke , H-J , Eason , ....

مصطلحات موضوعية: TOUSLED-LIKE KINASES, GENES, MUTATIONS, Cell Line, Translocation, Genetic, Genetic Association Studies, Humans, Protein Kinases/genetics, Child, Preschool, Infant, Male, Loss of Function Mutation/genetics, RNA, Messenger/genetics, Young Adult, Inheritance Patterns/genetics, Base Sequence, Adolescent, Facies, Adult, Female, Neurodevelopmental Disorders/genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.04.014Test
https://cris.maastrichtuniversity.nl/en/publications/694818f3-5c2c-4380-85f2-cc7867ebe360Test

المؤلفون: Gabriele, Michele, Vulto-van Silfhout, Anneke T, Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J, Stromme, Petter, Rosenfeld, Jill A, Shao, Yunru, Craigen, William J, Schaaf, Christian P, Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D, Nugent, Kimberly M, Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal

المصدر: Gabriele, Michele; Vulto-van Silfhout, Anneke T; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman; Douglas, Evelyn; Haan, Eric; Kosaki, Kenjiro; Takenouchi, Toshiki; Rauch, Anita; Steindl, Katharina; Frengen, Eirik; Misceo, Doriana; Pedurupillay, Christeen Ramane J; Stromme, Petter; Rosenfeld, Jill A; Shao, Yunru; Craigen, William J; Schaaf, Christian P; Rodriguez-Buritica, David; Farach, Laura; Friedman, Jennifer; Thulin, Perla; McLean, Scott D; Nugent, Kimberly M; Morton, Jenny; Nicholl, Jillian; Andrieux, Joris; Stray-Pedersen, Asbjørg; Chambon, Pascal; et al (2017). YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. American Journal of Human Genetics, 100(6):907-925.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics(clinical), Genetics

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/141812/1/Vulto-van_Silfhout_GM_et_al._YY1_Haploinsufficiency_Causes_an_Intellectual_Disability.pdfTest; info:pmid/28575647; urn:issn:0002-9297

الإتاحة: https://doi.org/10.5167/uzh-14181210.1016/j.ajhg.2017.05.006Test
https://www.zora.uzh.ch/id/eprint/141812Test/
https://www.zora.uzh.ch/id/eprint/141812/1/Vulto-van_Silfhout_GM_et_al._YY1_Haploinsufficiency_Causes_an_Intellectual_Disability.pdfTest

المؤلفون: Bostwick, Bret L., McLean, Scott, Posey, Jennifer E., Streff, Haley E., Gripp, Karen W., Blesson, Alyssa, Powell-Hamilton, Nina, Tusi, Jessica, Stevenson, David A., Farrelly, Ellyn, Hudgins, Louanne, Yang, Yaping, Xia, Fan, Wang, Xia, Liu, Pengfei, Walkiewicz, Magdalena, McGuire, Marianne, Grange, Dorothy K., Andrews, Marisa V., Hummel, Marybeth, Madan-Khetarpal, Suneeta, Infante, Elena, Coban-Akdemir, Zeynep, Miszalski-Jamka, Karol, Jefferies, John L., Rosenfeld, Jill A., Emrick, Lisa, Nugent, Kimberly M., Lupski, James R., Belmont, John W., Lee, Brendan, Lalani, Seema R.

المساهمون: Office of Strategic Coordination, National Human Genome Research Institute

المصدر: Genome Medicine ; volume 9, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-017-0463-8Test

المؤلفون: Gambin, Tomasz, Yuan, Bo, Bi, Weimin, Liu, Pengfei, Rosenfeld, Jill A., Coban-Akdemir, Zeynep, Pursley, Amber N., Nagamani, Sandesh C. S., Marom, Ronit, Golla, Sailaja, Dengle, Lauren, Petrie, Heather G., Matalon, Reuben, Emrick, Lisa, Proud, Monica B., Treadwell-Deering, Diane, Chao, Hsiao-Tuan, Koillinen, Hannele, Brown, Chester, Urraca, Nora, Mostafavi, Roya, Bernes, Saunder, Roeder, Elizabeth R., Nugent, Kimberly M., Bader, Patricia I., Bellus, Gary, Cummings, Michael, Northrup, Hope, Ashfaq, Myla, Westman, Rachel, Wildin, Robert, Beck, Anita E., Immken, LaDonna, Elton, Lindsay, Varghese, Shaun, Buchanan, Edward, Faivre, Laurence, Lefebvre, Mathilde, Schaaf, Christian P., Walkiewicz, Magdalena, Yang, Yaping, Kang, Sung-Hae L., Lalani, Seema R., Bacino, Carlos A., Beaudet, Arthur L., Breman, Amy M., Smith, Janice L., Cheung, Sau Wai, Lupski, James R., Patel, Ankita

المساهمون: National Institutes of Health, Polish Budget Founds, American Academy of Neurology, National Institute of Neurological Disorders and Stroke

المصدر: Genome Medicine ; volume 9, issue 1 ; ISSN 1756-994X

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s13073-017-0472-7Test

المؤلفون: Ni, Min, Black, Lauren F., Pan, Chunxiao, Vu, Hieu, Pei, Jimin, Ko, Bookyung, Cai, Ling, Solmonson, Ashley, Yang, Chendong, Nugent, Kimberly M., Grishin, Nick V., Xing, Chao, Roeder, Elizabeth, DeBerardinis, Ralph J.

المساهمون: Howard Hughes Medical Institute, Once Upon A Time Foundation

المصدر: Journal of Inherited Metabolic Disease ; volume 44, issue 4, page 949-960 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12387Test