المؤلفون: Rajendiran, Vignesh, Devaraju, Nivedhitha, Haddad, Mahdi, Ravi, Nithin Sam, Panigrahi, Lokesh, Paul, Joshua, Gopalakrishnan, Chandrasekar, Wyman, Stacia, Ariudainambi, Keerthiga, Mahalingam, Gokulnath, Periyasami, Yogapriya, Prasad, Kirti, George, Anila, Sukumaran, Dhiyaneshwaran, Gopinathan, Sandhiya, Pai, Aswin Anand, Nakamura, Yukio, Balasubramanian, Poonkuzhali, Ramalingam, Rajasekaran, Thangavel, Saravanabhavan, Velayudhan, Shaji R., Corn, Jacob E., Mackay, Joel P., Marepally, Srujan, Srivastava, Alok, Crossley, Merlin, Mohankumar, Kumarasamypet M.

المساهمون: Wellcome Trust DBT India Alliance, Australian Medical Council, India Ministry of Science & Technology Department of Biotechnology, Indian Council of Medical Research, Science and Engineering Research Board

المصدر: Molecular Therapy ; volume 32, issue 3, page 663-677 ; ISSN 1525-0016

مصطلحات موضوعية: Drug Discovery, Pharmacology, Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.ymthe.2024.01.023Test
https://api.elsevier.com/content/article/PII:S1525001624000236?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1525001624000236?httpAccept=text/plainTest

المؤلفون: Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana PG, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren DM, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny EV, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark

المصدر: Genetics in Medicine. 22(5)

مصطلحات موضوعية: Genetics, Clinical Research, Congenital Structural Anomalies, Brain Disorders, Pediatric, Intellectual and Developmental Disabilities (IDD), 2.1 Biological and endogenous factors, Aetiology, Child, Female, GATA Transcription Factors, Humans, Intellectual Disability, Megalencephaly, Neurodevelopmental Disorders, Nucleosomes, Phenotype, Pregnancy, Repressor Proteins, GATAD2B, NuRD complex, apraxia of speech, chromatin remodeling, macrocephaly, Undiagnosed Diseases Network, GATAD2B, NuRD complex, apraxia of speech, chromatin remodeling, macrocephaly, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7683d0mfTest

المؤلفون: Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y, Silva, Ana PG, Lee, Hane, Douine, Emilie D, Otero, Maria G, Choi, Andrew, Grand, Katheryn, Taff, Ingrid P, Delgado, Mauricio R, Hajianpour, MJ, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W, Vergano, Samantha A, Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E, Challman, Thomas D, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren DM, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A, Hurst, Jane, Fitzpatrick, David R, Morton, Jenny EV, Cox, Helen, Venkateswaran, Sunita, Young, Juan I, Marsh, Eric D, Nelson, Stanley F, Martinez, Julian A, Graham, John M, Kini, Usha, Mackay, Joel P, Pierson, Tyler Mark

المصدر: Genetics in Medicine. 22(4)

مصطلحات موضوعية: Biological Sciences, Genetics, Undiagnosed Diseases Network, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/53c7t7b0Test

المؤلفون: De Franco, Simona, Vandenameele, Julie, Brans, Alain, Verlaine, Olivier, Bendak, Katerina, Damblon, Christian, Matagne, André, Segal, David J, Galleni, Moreno, Mackay, Joel P, Vandevenne, Marylène

المصدر: Scientific reports. 9(1)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1t6189b9Test

المؤلفون: Herchenröther, Andreas, Gossen, Stefanie, Friedrich, Tobias, Reim, Alexander, Daus, Nadine, Diegmüller, Felix, Leers, Jörg, Sani, Hakimeh Moghaddas, Gerstner, Sarah, Schwarz, Leah, Stellmacher, Inga, Szymkowiak, Laura Victoria, Nist, Andrea, Stiewe, Thorsten, Borggrefe, Tilman, Mann, Matthias, Mackay, Joel P., Bartkuhn, Marek, Borchers, Annette, Lan, Jie, Hake, Sandra B.

مصطلحات موضوعية: ddc:570

وصف الملف: application/pdf

العلاقة: https://jlupub.ub.uni-giessen.de//handle/jlupub/18521Test; http://dx.doi.org/10.22029/jlupub-17885Test

الإتاحة: https://doi.org/10.22029/jlupub-17885Test
https://jlupub.ub.uni-giessen.de//handle/jlupub/18521Test

المؤلفون: Jowsey, William J, Morris, Calum RP, Hall, Drew A, Sullivan, John T, Fagerlund, Robert D, Eto, Karina Y, Solomon, Paul D, Mackay, Joel P, Bond, Charles S, Ramsay, Josh, Ronson, Clive W

وصف الملف: fulltext

العلاقة: http://purl.org/au-research/grants/arc/FT170100235Test; http://hdl.handle.net/20.500.11937/92328Test

الإتاحة: https://doi.org/20.500.11937/92328Test
https://doi.org/10.1093/nar/gkad457Test
https://hdl.handle.net/20.500.11937/92328Test

المؤلفون: Loo, Lipin, Waller, Matthew A., Moreno, Cesar L., Cole, Alexander J., Stella, Alberto Ospina, Pop, Oltin-Tiberiu, Jochum, Ann-Kristin, Ali, Omar Hasan, Denes, Christopher E., Hamoudi, Zina, Chung, Felicity, Aggarwal, Anupriya, Low, Jason K. K., Patel, Karishma, Siddiquee, Rezwan, Kang, Taeyoung, Mathivanan, Suresh, Mackay, Joel P., Jochum, Wolfram, Flatz, Lukas, Hesselson, Daniel, Turville, Stuart, Neely, G. Gregory

المساهمون: Cadwell, Ken, National Health and Medical Research Council, University of Sydney, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

المصدر: PLOS Biology ; volume 21, issue 2, page e3001967 ; ISSN 1545-7885

الإتاحة: https://doi.org/10.1371/journal.pbio.3001967Test

المؤلفون: Arvindekar, Shreyas M., Jackman, Matthew J., Low, Jason K.K., Landsberg, Michael J., Mackay, Joel P., Viswanath, Shruthi

المصدر: Biophysical Journal ; volume 122, issue 3, page 472a ; ISSN 0006-3495

مصطلحات موضوعية: Biophysics

الإتاحة: https://doi.org/10.1016/j.bpj.2022.11.2531Test
https://api.elsevier.com/content/article/PII:S0006349522034476?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0006349522034476?httpAccept=text/plainTest

المؤلفون: Low, Jason K.K., Patel, Karishma, Jones, Natasha, Solomon, Paul, Norman, Alexander, Maxwell, Joshua W.C., Pachl, Petr, Matthews, Jacqueline M., Payne, Richard J., Passioura, Toby, Suga, Hiroaki, Walport, Louise J., Mackay, Joel P.

المساهمون: Francis Crick Institute, Medical Research Council, Australian Nuclear Science and Technology Organisation, Cancer Research UK, National Health and Medical Research Council, National Institute of Health and Medical Research, Wellcome Trust

المصدر: Journal of Biological Chemistry ; volume 299, issue 12, page 105482 ; ISSN 0021-9258

مصطلحات موضوعية: Cell Biology, Molecular Biology, Biochemistry

الإتاحة: https://doi.org/10.1016/j.jbc.2023.105482Test
https://api.elsevier.com/content/article/PII:S0021925823025103?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0021925823025103?httpAccept=text/plainTest

المؤلفون: Werren, Elizabeth A., Guxholli, Alba, Jones, Natasha, Wagner, Matias, Hannibal, Iris, Granadillo, Jorge L., Tyndall, Amanda V., Moccia, Amanda, Kuehl, Ryan, Levandoski, Kristin M., Day-Salvatore, Debra L., Wheeler, Marsha, Chong, Jessica X., Bamshad, Michael J., Innes, A. Micheil, Pierson, Tyler Mark, Mackay, Joel P., Bielas, Stephanie L., Martin, Donna M.

المصدر: Human Genetics and Genomics Advances ; volume 4, issue 3, page 100198 ; ISSN 2666-2477

مصطلحات موضوعية: Genetics (clinical), Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.xhgg.2023.100198Test
https://api.elsevier.com/content/article/PII:S2666247723000301?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666247723000301?httpAccept=text/plainTest