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: Gracia-Diaz, Carolina, Zhou, Yijing, Yang, Qian, Maroofian, Reza, Espana-Bonilla, Paula, Lee, Chul-Hwan, Zhang, Shuo, Padilla, Natàlia, Fueyo, Raquel, Waxman, Elisa A, Lei, Sunyimeng, Otrimski, Garrett, Li, Dong, Sheppard, Sarah E, Mark, Paul, Harr, Margaret H, Hakonarson, Hakon, Rodan, Lance, Jackson, Adam, Vasudevan, Pradeep, Powel, Corrina, Mohammed, Shehla, Maddirevula, Sateesh, Alzaidan, Hamad, Faqeih, Eissa A, Efthymiou, Stephanie, Turchetti, Valentina, Rahman, Fatima, Maqbool, Shazia, Salpietro, Vincenzo, Ibrahim, Shahnaz H, di Rosa, Gabriella, Houlden, Henry, Alharbi, Maha Nasser, Al-Sannaa, Nouriya Abbas, Bauer, Peter, Zifarelli, Giovanni, Estaras, Conchi, Hurst, Anna CE, Thompson, Michelle L, Chassevent, Anna, Smith-Hicks, Constance L, de la Cruz, Xavier, Holtz, Alexander M, Elloumi, Houda Zghal, Hajianpour, MJ, Rieubland, Claudine, Braun, Dominique, Banka, Siddharth, Genomic England Research Consortium, ., French, Deborah L, Heller, Elizabeth A, Saade, Murielle, Song, Hongjun, Ming, Guo-Li, Alkuraya, Fowzan S, Agrawal, Pankaj B, Reinberg, Danny, Bhoj, Elizabeth J, Martínez-Balbás, Marian A, Akizu, Naiara

المصدر: Nat Commun , 14 , Article 4109. (2023)

مصطلحات موضوعية: Autism spectrum disorders

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10173395/1/Efthymiou_s41467-023-39645-5.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10173395Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10173395/1/Efthymiou_s41467-023-39645-5.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10173395Test/

المؤلفون: Jones, Amy G., Aquilino, Matilde, Tinker, Rory J., Duncan, Laura, Jenkins, Zandra, Carvill, Gemma L., DeWard, Stephanie J., Grange, Dorothy K., Hajianpour, MJ, Halliday, Benjamin J., Holder-Espinasse, Muriel, Horvath, Judit, Maitz, Silvia, Nigro, Vincenzo, Morleo, Manuela, Paul, Victoria, Spencer, Careni, Esterhuizen, Alina I., Polster, Tilman, Spano, Alice, Gómez-Lozano, Inés, Kumar, Abhishek, Poke, Gemma, Phillips, John A., Underhill, Hunter R., Gimenez, Gregory, Namba, Takashi, Robertson, Stephen P.

المصدر: The American Journal of Human Genetics ; volume 111, issue 4, page 729-741 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2024.03.005Test
https://api.elsevier.com/content/article/PII:S0002929724000788?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929724000788?httpAccept=text/plainTest

المؤلفون: Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, Di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S

المساهمون: Gracia-Diaz, C, Zhou, Y, Yang, Q, Maroofian, R, Espana-Bonilla, P, Lee, Ch, Zhang, S, Padilla, N, Fueyo, R, Waxman, Ea, Lei, S, Otrimski, G, Li, D, Sheppard, Se, Mark, P, Harr, Mh, Hakonarson, H, Rodan, L, Jackson, A, Vasudevan, P, Powel, C, Mohammed, S, Maddirevula, S, Alzaidan, H, Faqeih, Ea, Efthymiou, S, Turchetti, V, Rahman, F, Maqbool, S, Salpietro, V, Ibrahim, Sh, Di Rosa, G, Houlden, H, Alharbi, Mn, Al-Sannaa, Na, Bauer, P, Zifarelli, G, Estaras, C, Hurst, Ace, Thompson, Ml, Chassevent, A, Smith-Hicks, Cl, de la Cruz, X, Holtz, Am, Elloumi, Hz, Hajianpour, Mj, Rieubland, C, Braun, D, Banka, S

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37433783; info:eu-repo/semantics/altIdentifier/wos/WOS:001037937100025; volume:14; issue:4109; firstpage:1; lastpage:18; numberofpages:18; journal:NATURE COMMUNICATIONS; https://hdl.handle.net/11570/3270568Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85164446548

الإتاحة: https://doi.org/10.1038/s41467-023-39645-5Test
https://hdl.handle.net/11570/3270568Test

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, vol 22, iss 4

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

جغرافية الموضوع: 822 - 822

وصف الملف: application/pdf

العلاقة: qt53c7t7b0; https://escholarship.org/uc/item/53c7t7b0Test

الإتاحة: https://escholarship.org/uc/item/53c7t7b0Test

المؤلفون: Hajianpour, MJ, Carver, Jennifer, Yoon, Stefanie

المصدر: Molecular Genetics and Metabolism ; volume 132, page S143-S144 ; ISSN 1096-7192

مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1016/s1096-7192Test(21)00309-7
https://api.elsevier.com/content/article/PII:S1096719221003097?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719221003097?httpAccept=text/plainTest

المؤلفون: Hajianpour, MJ, Bombei, Hannah, Lieberman, Scott M., Revell, Rachael, Krishna, Rachana, Gregorsok, Robert, Kao, Simon, Milunsky, Jeff M.

المصدر: The Journal of the American Dental Association ; volume 148, issue 3, page 157-163 ; ISSN 0002-8177

مصطلحات موضوعية: General Dentistry

الإتاحة: https://doi.org/10.1016/j.adaj.2016.11.016Test
https://api.elsevier.com/content/article/PII:S0002817716309126?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0002817716309126?httpAccept=text/xmlTest

المؤلفون: Hajianpour, MJ (AUTHOR), Carver, Jennifer (AUTHOR), Yoon, Stefanie (AUTHOR)

المصدر: Molecular Genetics & Metabolism. 2021 Supplement 1, Vol. 132, pS143-S144. 2p.

مصطلحات موضوعية: *INTELLECTUAL disabilities, *GENETIC mutation, *ADULTS