-
1دورية أكاديمية
المؤلفون: Li, Joey H.Aff1, Aff2, Aff3, Zhou, Adalia, Lee, Cassidy D.Aff1, Aff2, Aff3, Shah, Siya N., Ji, Jeong HyunAff1, Aff2, Senthilkumar, Vignesh, Padilla, Eddie T.Aff1, Aff2, Ball, Andréa B., Feng, Qinyan, Bustillos, Christian G.Aff1, Aff2, Riggan, LukeAff1, Aff2, Greige, Alain, Divakaruni, Ajit S., Annese, Fran, Cooley Coleman, Jessica A., Skinner, Steven A., Cowan, Christopher W., O’Sullivan, Timothy E.Aff1, Aff2, IDs41590024018112_cor18
المصدر: Nature Immunology. 25(5):778-789
-
2دورية أكاديمية
المؤلفون: Li, Joey H.Aff1, Aff2, Aff3, Zhou, Adalia, Lee, Cassidy D.Aff1, Aff2, Aff3, Shah, Siya N., Ji, Jeong HyunAff1, Aff2, Senthilkumar, Vignesh, Padilla, Eddie T.Aff1, Aff2, Ball, Andréa B., Feng, Qinyan, Bustillos, Christian G.Aff1, Aff2, Riggan, LukeAff1, Aff2, Greige, Alain, Divakaruni, Ajit S., Annese, Fran, Coleman, Jessica A. Cooley, Skinner, Steven A., Cowan, Christopher W., O’Sullivan, Timothy E.Aff1, Aff2, IDs4159002401841w_cor18
المصدر: Nature Immunology. 25(5):928-928
-
3دورية أكاديمية
المؤلفون: Sajan, Samin A, Jhangiani, Shalini N, Muzny, Donna M, Gibbs, Richard A, Lupski, James R, Glaze, Daniel G, Kaufmann, Walter E, Skinner, Steven A, Annese, Fran, Friez, Michael J, Lane, Jane, Percy, Alan K, Neul, Jeffrey L
المصدر: Genetics in Medicine. 19(1)
مصطلحات موضوعية: Biological Sciences, Genetics, Mental Health, Pediatric, Rett Syndrome, Rare Diseases, Neurodegenerative, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Congenital, Adolescent, Adult, Child, Child, Preschool, Chromatin, DNA Copy Number Variations, Female, Forkhead Transcription Factors, Humans, Infant, Male, Methyl-CpG-Binding Protein 2, Mutation, Nerve Tissue Proteins, Polymorphism, Single Nucleotide, Protein Serine-Threonine Kinases, Exome Sequencing, chromatin regulation, CNV, exome sequencing, glutamate signaling, Rett syndrome, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/1t98x3zx
-
4دورية أكاديمية
المؤلفون: Tarquinio, Daniel C, Hou, Wei, Neul, Jeffrey L, Lane, Jane B, Barnes, Katherine V, O'Leary, Heather M, Bruck, Natalie M, Kaufmann, Walter E, Motil, Kathleen J, Glaze, Daniel G, Skinner, Steven A, Annese, Fran, Baggett, Lauren, Barrish, Judy O, Geerts, Suzanne P, Percy, Alan K
المصدر: Pediatric neurology. 52(6)
مصطلحات موضوعية: Humans, Rett Syndrome, Severity of Illness Index, Risk Factors, Longitudinal Studies, Age Factors, Age of Onset, Mutation, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, Female, Male, Young Adult, Delayed Diagnosis, MECP2, Rett syndrome, early diagnosis, prognosis, risk factors, Neurology & Neurosurgery, Neurosciences, Paediatrics and Reproductive Medicine
URL الوصول: https://escholarship.org/uc/item/6z48s5vf
-
5دورية أكاديمية
المؤلفون: Neul, Jeffrey L, Lane, Jane B, Lee, Hye-Seung, Geerts, Suzanne, Barrish, Judy O, Annese, Fran, Baggett, Lauren McNair, Barnes, Katherine, Skinner, Steven A, Motil, Kathleen J, Glaze, Daniel G, Kaufmann, Walter E, Percy, Alan K
المصدر: Journal of Neurodevelopmental Disorders. 6(1)
مصطلحات موضوعية: Paediatrics, Biomedical and Clinical Sciences, Intellectual and Developmental Disabilities (IDD), Neurodegenerative, Clinical Research, Genetics, Pediatric, Rare Diseases, Rett Syndrome, Brain Disorders, Neurosciences, Psychology
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/969157nn
-
6دورية أكاديمية
المؤلفون: Fang, Xiaolan, Baggett, Lauren M., Caylor, Raymond C., Percy, Alan K., Neul, Jeffrey L., Lane, Jane B., Glaze, Daniel G., Benke, Tim A., Marsh, Eric D., Motil, Kathleen J., Barrish, Judy O., Annese, Fran E., Skinner, Steven A.
المصدر: American Journal of Medical Genetics. Part A; Feb2024, Vol. 194 Issue 2, p160-173, 14p
-
7دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
8دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
10دورية أكاديمية
المؤلفون: Cooley Coleman, Jessica A., Fee, Timothy, Bend, Renee, Louie, Raymond, Annese, Fran, Stallworth, Jennifer, Worthington, Jessica, Buchanan, Caroline Black, Everman, David B., Skinner, Steven, Friez, Michael J., Jones, Julie R., Spellicy, Catherine J.
المصدر: American Journal of Medical Genetics. Part A; Oct2022, Vol. 188 Issue 10, p2988-2998, 11p