المؤلفون: Zafarullah, Marwa, Angkustsiri, Kathleen, Quach, Austin, Yeo, Seungjun, Durbin-Johnson, Blythe, Bowling, Heather, Tassone, Flora

المصدر: Metabolomics. 20(2)

مصطلحات موضوعية: 22q11.2 deletion syndrome, APS, AS, Biomarker, Metabolomics, Pathways, Proteomics, Humans, DiGeorge Syndrome, Longitudinal Studies, Proteomics, Autism Spectrum Disorder, Phosphatidylinositol 3-Kinases, Metabolomics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/32t4t01f

المؤلفون: Nagoshi, Rintaro, Sakamoto, Atsushi^{Aff2, IDs12185024037682_cor2}, Imai, Tsuyoshi, Uchiyama, Toru, Kaname, Tadashi, Kunishima, Shinji, Ishiguro, Akira^{Aff1, Aff2}

المصدر: International Journal of Hematology. 120(1):142-145

المؤلفون: McKinney, Walker S, Williford, Desireé N, Abbeduto, Leonard, Schmitt, Lauren M

المصدر: Journal of Clinical and Translational Science. 8(1)

مصطلحات موضوعية: Biological Psychology, Cognitive and Computational Psychology, Social and Personality Psychology, Psychology, Mental Health, Behavioral and Social Science, Intellectual and Developmental Disabilities (IDD), Clinical Research, Brain Disorders, Mental health, Quality Education, 22q11.2 deletion syndrome, Down syndrome, IQ, cognitive development, developmental disabilities, economic stability, environment, fragile x syndrome, genetic syndrome, home environment, intellectual developmental disabilities, parental stress, social determinants of health, social-demographic variables, socioeconomic status, syndromic IDD

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9w80t8x7

المؤلفون: Ingram, David G.^{Aff1, IDs1132502302897y_cor1}, Tracy, Meghan, Noel-MacDonnell, Janelle^{Aff3, Aff4}, Ghulmiyyah, Jana M., Arganbright, Jill M.

المصدر: Sleep and Breathing: International Journal of the Science and Practice of Sleep Medicine. 28(1):489-494

المؤلفون: Crockett, Alexis M., Kebir, Hania, Anderson, Stewart A.^{Aff2, Aff3}, Jyonouchi, Soma^{Aff4, Aff5}, Romberg, Neil^{Aff4, Aff5, Aff6}, Alvarez, Jorge I.^{Aff1, Aff6, IDs1087502401686w_cor6}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 44(4)

المؤلفون: Emilie Favre, Margot Piveteau, Marie-Noelle Babinet, Caroline Demily

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: 22q11.2 deletion syndrome, Arithmetical skills, Magnitude comparison task, Working memory, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8ca31937099745cbb2a7f3338122c3bf

المؤلفون: Isabela Mayá Wayhs Silva, Vera Lúcia Gil-da-Silva-Lopes

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Health service accessibility, Quality of life, Rare genetic disease, 22q11.2 deletion syndrome, Health equity, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/79f78062b914484d926dd6f779ce3638

المؤلفون: Khongthon N, Theeraviwatwong M, Wichajarn K, Rojnueangnit K

المصدر: The Application of Clinical Genetics, Vol Volume 17, Pp 107-115 (2024)

مصطلحات موضوعية: 22q11.2 deletion syndrome, williams syndrome, accuracy, gestaltmatcher, face2gene, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.dovepress.com/comparison-of-the-accuracy-in-provisional-diagnosis-of-22q112-deletion-peer-reviewed-fulltext-article-TACG; https://doaj.org/toc/1178-704X

URL الوصول: https://doaj.org/article/c6487de8f0cd4600b328417f389e368b

المؤلفون: David R. Roalf, Donna M. McDonald-McGinn, Joelle Jee, Mckenna Krall, T. Blaine Crowley, Paul J. Moberg, Christian Kohler, Monica E. Calkins, Andrew J.D. Crow, Nicole Fleischer, R. Sean Gallagher, Virgilio Gonzenbach, Kelly Clark, Ruben C. Gur, Emily McClellan, Daniel E. McGinn, Arianna Mordy, Kosha Ruparel, Bruce I. Turetsky, Russell T. Shinohara, Lauren White, Elaine Zackai, Raquel E. Gur

المصدر: Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Psychosis, Minor physical anomalies, 22q11.2 deletion syndrome, Face, Computer-vision, Schizophrenia, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1866-1955

URL الوصول: https://doaj.org/article/dc8c12b789804ab18fb63538360a9af8

المؤلفون: Anelisa Gollo Dantas, Beatriz Carvalho Nunes, Natália Nunes, Pedro Galante, Paula Fontes Asprino, Vanessa Kiyomi Ota, Maria Isabel Melaragno

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: 22q11.2 deletion syndrome, miRNA, Next-generation sequencing, miR-185-5p, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/05635cc8516341eb8457684996a94f86