المؤلفون: San Roman, Adrianna K., Skaletsky, Helen, Godfrey, Alexander K., Bokil, Neha V., Teitz, Levi, Singh, Isani, Blanton, Laura V., Bellott, Daniel W., Pyntikova, Tatyana, Lange, Julian, Koutseva, Natalia, Hughes, Jennifer F., Brown, Laura, Phou, Sidaly, Buscetta, Ashley, Kruszka, Paul, Banks, Nicole, Dutra, Amalia, Pak, Evgenia, Lasutschinkow, Patricia C., Keen, Colleen, Davis, Shanlee M., Lin, Angela E., Tartaglia, Nicole R., Samango-Sprouse, Carole, Muenke, Maximilian, Page, David C.

المصدر: Cell Genomics ; volume 4, issue 1, page 100462 ; ISSN 2666-979X

مصطلحات موضوعية: Genetics, Biochemistry, Genetics and Molecular Biology (miscellaneous)

الإتاحة: https://doi.org/10.1016/j.xgen.2023.100462Test
https://api.elsevier.com/content/article/PII:S2666979X23003063?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666979X23003063?httpAccept=text/plainTest

المؤلفون: Sutherland Ashley, Howell Susan, Tartaglia Nicole R, Wilson Rebecca, Wilson Lennie

المصدر: Orphanet Journal of Rare Diseases, Vol 5, Iss 1, p 8 (2010)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: http://www.ojrd.com/content/5/1/8Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/49becd16402c40a8b2c35a7e374126edTest

المؤلفون: Hallgrímsson, Benedikt, Aponte, J David, Katz, David C, Bannister, Jordan J, Riccardi, Sheri L, Mahasuwan, Nick, McInnes, Brenda L, Ferrara, Tracey M, Lipman, Danika M, Neves, Amanda B, Spitzmacher, Jared AJ, Larson, Jacinda R, Bellus, Gary A, Pham, Anh M, Aboujaoude, Elias, Benke, Timothy A, Chatfield, Kathryn C, Davis, Shanlee M, Elias, Ellen R, Enzenauer, Robert W, French, Brooke M, Pickler, Laura L, Shieh, Joseph TC, Slavotinek, Anne, Harrop, A Robertson, Innes, A Micheil, McCandless, Shawn E, McCourt, Emily A, Meeks, Naomi JL, Tartaglia, Nicole R, Tsai, Anne C-H, Wyse, J Patrick H, Bernstein, Jonathan A, Sanchez-Lara, Pedro A, Forkert, Nils D, Bernier, Francois P, Spritz, Richard A, Klein, Ophir D

المصدر: Genetics in Medicine. 22(10)

مصطلحات موضوعية: Biological Sciences, Genetics, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Congenital, Face, Humans, Imaging, Three-Dimensional, Syndrome, syndromes, facial imaging, deep phenotyping, diagnosis, morphometrics, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0tv3r47xTest

المؤلفون: San Roman, Adrianna K., Godfrey, Alexander K., Skaletsky, Helen, Bellott, Daniel W., Groff, Abigail F., Harris, Hannah L., Blanton, Laura V., Hughes, Jennifer F., Brown, Laura, Phou, Sidaly, Buscetta, Ashley, Kruszka, Paul, Banks, Nicole, Dutra, Amalia, Pak, Evgenia, Lasutschinkow, Patricia C., Keen, Colleen, Davis, Shanlee M., Tartaglia, Nicole R., Samango-Sprouse, Carole, Muenke, Maximilian, Page, David C.

المصدر: Cell Genomics ; volume 3, issue 2, page 100259 ; ISSN 2666-979X

مصطلحات موضوعية: Genetics, Biochemistry, Genetics and Molecular Biology (miscellaneous)

الإتاحة: https://doi.org/10.1016/j.xgen.2023.100259Test
https://api.elsevier.com/content/article/PII:S2666979X23000150?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666979X23000150?httpAccept=text/plainTest

المؤلفون: Tartaglia, Nicole R, Wilson, Rebecca, Miller, Judith S, Rafalko, Jessica, Cordeiro, Lisa, Davis, Shanlee, Hessl, David, Ross, Judith

المصدر: Journal of Developmental and Behavioral Pediatrics. 38(3)

مصطلحات موضوعية: Social and Personality Psychology, Psychology, Autism, Pediatric, Mental Health, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Behavioral and Social Science, Clinical Research, Mental health, Adolescent, Adult, Autism Spectrum Disorder, Child, Child, Preschool, Comorbidity, Humans, Klinefelter Syndrome, Male, Severity of Illness Index, XYY Karyotype, Young Adult, XXY, Klinefelter syndrome, XYY, XXYY, autism spectrum disorder, Y chromosome, Medical and Health Sciences, Psychology and Cognitive Sciences, Developmental & Child Psychology, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5kr3h9wpTest

المؤلفون: Howell, Susan, Buchanan, Catherine, Davis, Shanlee M., Miyazawa, Heather, Furuta, Glenn T., Tartaglia, Nicole R., Nguyen, Nathalie

المساهمون: National Institute of Neurological Disorders and Stroke, National Institute of Child Health and Human Development, National Center for Advancing Translational Sciences

المصدر: Molecular Genetics & Genomic Medicine ; volume 9, issue 12 ; ISSN 2324-9269 2324-9269

الإتاحة: https://doi.org/10.1002/mgg3.1833Test

المؤلفون: Budimirovic, Dejan B., Dominick, Kelli C., Gabis, Lidia V., Adams, Maxwell, Adera, Mathews, Huang, Linda, Ventola, Pamela, Tartaglia, Nicole R., Berry-Kravis, Elizabeth

المصدر: Frontiers in Pharmacology ; volume 12 ; ISSN 1663-9812

مصطلحات موضوعية: Pharmacology (medical), Pharmacology

الإتاحة: https://doi.org/10.3389/fphar.2021.757825Test

المؤلفون: Howell, Susan, Davis, Shanlee M., Thompson, Talia, Brown, Mariah, Tanda, Tanea, Kowal, Karen, Alston, Amanda, Ross, Judith, Tartaglia, Nicole R.

المصدر: Journal of Genetic Counseling; Feb2023, Vol. 32 Issue 1, p250-259, 10p

المؤلفون: Howell, Susan, Davis, Shanlee M., Thompson, Talia, Brown, Mariah, Tanda, Tanea, Kowal, Karen, Alston, Amanda, Ross, Judith, Tartaglia, Nicole R.

المساهمون: National Institutes of Health, National Institute of Neurological Disorders and Stroke, National Center for Advancing Translational Sciences

المصدر: Journal of Genetic Counseling ; volume 32, issue 1, page 250-259 ; ISSN 1059-7700 1573-3599

الإتاحة: https://doi.org/10.1002/jgc4.1639Test

المؤلفون: Davis, Shanlee M., DeKlotz, Sophia, Nadeau, Kristen J., Kelsey, Megan M., Zeitler, Philip S., Tartaglia, Nicole R.

المساهمون: American Diabetes Association, National Institutes of Health

المصدر: American Journal of Medical Genetics Part C: Seminars in Medical Genetics ; volume 184, issue 2, page 327-333 ; ISSN 1552-4868 1552-4876

الإتاحة: https://doi.org/10.1002/ajmg.c.31784Test