المؤلفون: Thompson, William R., Manuel, Ryan, Abbruscato, Anthony, Carr, Jim, Campbell, John, Hornby, Brittany, Vaz, Frédéric M., Vernon, Hilary J.

المصدر: Genetics in Medicine ; page 101138 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2024.101138Test
https://api.elsevier.com/content/article/PII:S1098360024000716?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360024000716?httpAccept=text/plainTest

المؤلفون: Vaniya, Arpana, Karlstaedt, Anja, Gulkok, Damla, Thottakara, Tilo, Liu, Yamin, Fan, Sili, Eades, Hannah, Vakrou, Styliani, Fukunaga, Ryuya, Vernon, Hilary J., Fiehn, Oliver, Abraham, M. Roselle

المصدر: Journal of Molecular and Cellular Cardiology Plus ; volume 8, page 100073 ; ISSN 2772-9761

الإتاحة: https://doi.org/10.1016/j.jmccpl.2024.100073Test
https://api.elsevier.com/content/article/PII:S2772976124000138?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2772976124000138?httpAccept=text/plainTest

المؤلفون: Ehmsen, Jeffrey, Weinstock, Nadav, Ziegler, Shira, Britton, Jacquelyn, Wang, Tao, Vernon, Hilary

المصدر: Genetics in Medicine Open ; volume 2, page 100912 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2024.100912Test
https://api.elsevier.com/content/article/PII:S294977442400058X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S294977442400058X?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, Silva, Ana, Lee, Hane, Douine, Emilie, Otero, Maria, Choi, Andrew, Grand, Katheryn, Taff, Ingrid, Delgado, Mauricio, Hajianpour, M, Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen, Vergano, Samantha, Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana, Wain, Karen, Challman, Thomas, Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James, Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren, Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane, Hurst, Jane, Fitzpatrick, David, Morton, Jenny, Cox, Helen, Venkateswaran, Sunita, Young, Juan, Marsh, Eric, Nelson, Stanley, Martinez, Julian, Graham, John, Kini, Usha, Mackay, Joel, Pierson, Tyler

المصدر: Genetics in Medicine. 22(4)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/53c7t7b0Test
https://escholarship.org/content/qt53c7t7b0/qt53c7t7b0.pdfTest

المؤلفون: Lewis, Sara A, Bakhtiari, Somayeh, Forstrom, Jacob, Bayat, Allan, Bilan, Frédéric, Le Guyader, Gwenaël, Alkhunaizi, Ebba, Vernon, Hilary, Padilla-Lopez, Sergio R., Kruer, Michael C

المصدر: Lewis , S A , Bakhtiari , S , Forstrom , J , Bayat , A , Bilan , F , Le Guyader , G , Alkhunaizi , E , Vernon , H , Padilla-Lopez , S R & Kruer , M C 2023 , ' AGAP1-associated endolysosomal trafficking abnormalities link gene-environment interactions in neurodevelopmental disorders ' , Disease Models & Mechanisms , vol. 16 , no. 9 , dmm049838 . https://doi.org/10.1242/dmm.049838Test

مصطلحات موضوعية: Humans, Gene-Environment Interaction, Endosomes, Intellectual Disability/genetics, GTPase-Activating Proteins

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/79a58a3d-a83a-4098-8baa-ada92e740745Test

الإتاحة: https://doi.org/10.1242/dmm.049838Test
https://portal.findresearcher.sdu.dk/da/publications/79a58a3d-a83a-4098-8baa-ada92e740745Test
https://findresearcher.sdu.dk/ws/files/252589666/dmm049838.pdfTest

المؤلفون: Forsyth, RaeLynn, Peretz, Ryan H., Dempsey, Angela, Britton, Jacquelyn, Kratz, Lisa, Hamosh, Ada, Vernon, Hilary, Batshaw, Mark L., Valle, David

المساهمون: National Human Genome Research Institute

المصدر: JIMD Reports ; volume 64, issue 3, page 233-237 ; ISSN 2192-8312 2192-8312

الإتاحة: https://doi.org/10.1002/jmd2.12361Test

المؤلفون: Van den Eynde, Jef, Chinni, Bhargava, Vernon, Hilary, Thompson, W. Reid, Hornby, Brittany, Kutty, Shelby, Manlhiot, Cedric

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-023-02676-8Test

المؤلفون: Vernon, Hilary, Hornby, Brittany, Abbruscato, Anthony, Carr, Jim, Thompson, W. Reid

المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100008 ; ISSN 2949-7744

الإتاحة: https://doi.org/10.1016/j.gimo.2023.100008Test
https://api.elsevier.com/content/article/PII:S2949774423000080?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423000080?httpAccept=text/plainTest

المؤلفون: Carey, Andrew R., Miller, Neil R., Cui, Hong, Allis, Katrina, Balog, Amanda, Bai, Renkui, Vernon, Hilary J., Fraser, Clare, Mollan, Susan

المصدر: Journal of Neuro-Ophthalmology; Jun2024, Vol. 44 Issue 2, p247-252, 6p