المؤلفون: Bell, Alison, Bonafede, Lucas (ORCID 0000-0002-0272-5326), Lorch, Arlene, Snitzer, Melanie, Edmonds, Scott A., Levin, Alex V.

المصدر: Journal of Visual Impairment & Blindness. Mar-Apr 2023 117(2):107-115.

تمت مراجعته من قبل الزملاء: Y

Page Count: 9

الواصفات: Allied Health Personnel, Occupational Therapy, Allied Health Occupations Education, College Students, Knowledge Level, Job Skills, Ophthalmology, Visual Impairments, Blindness, Program Development, Program Evaluation, Skill Development, Experiential Learning, Writing (Composition), Reflection

مصطلحات جغرافية: Pennsylvania (Philadelphia)

المؤلفون: Day, Alyssa M, McCulloch, Charles E, Hammill, Adrienne M, Juhász, Csaba, Lo, Warren D, Pinto, Anna L, Miles, Daniel K, Fisher, Brian J, Ball, Karen L, Wilfong, Angus A, Levin, Alex V, Thau, Avrey J, Comi, Anne M, Group, Institute of Health Sponsor Rare Disease Clinical Research Consortium Brain and Vascular Malformation Consortium SWS Investigator, Koenig, Jim I, Lawton, Michael T, Marchuk, Douglas A, Moses, Marsha A, Freedman, Sharon F, Pevsner, Jonathan

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Clinical Research, Epilepsy, Intellectual and Developmental Disabilities (IDD), Congenital Structural Anomalies, Neurosciences, Eye Disease and Disorders of Vision, Rare Diseases, Neurodegenerative, Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Mental health, Neurological, Adolescent, Adult, Age of Onset, Child, Child, Preschool, Disease Susceptibility, Female, Glaucoma, Humans, Infant, Intellectual Disability, Learning Disabilities, Male, Neurosurgical Procedures, Ophthalmologic Surgical Procedures, Port-Wine Stain, Prognosis, Severity of Illness Index, Sex Factors, Stroke, Sturge-Weber Syndrome, Young Adult, Sturge-Weber syndrome, Seizures, Family history, Gender, Brain involvement, Port-wine birthmark, National Institute of Health Sponsor: Rare Disease Clinical Research Consortium (RDCRN) Brain and Vascular Malformation Consortium (BVMC) SWS Investigator Group, Paediatrics and Reproductive Medicine, Neurology & Neurosurgery, Paediatrics

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8z81m88bTest

المؤلفون: Cevik, Senem, Wangtiraumnuay, Nutsuchar, Van Schelvergem, Kristof, Tsukikawa, Mai, Capasso, Jenina, Biswas, Subhasis B., Bodt, Barry, Levin, Alex V., Biswas-Fiss, Esther

وصف الملف: application/pdf

العلاقة: Cevik, Senem, Nutsuchar Wangtiraumnuay, Kristof Van Schelvergem, Mai Tsukikawa, Jenina Capasso, Subhasis B. Biswas, Barry Bodt, Alex V. Levin, and Esther Biswas-Fiss. “Protein Modeling and in Silico Analysis to Assess Pathogenicity of ABCA4 Variants in Patients with Inherited Retinal Disease.” Molecular Vision, October 25, 2023. http://www.molvis.org/molvis/v29/217Test/.; https://udspace.udel.edu/handle/19716/34192Test

الإتاحة: https://udspace.udel.edu/handle/19716/34192Test

المؤلفون: Basta, Morgan D., Petruk, Svetlana, Summer, Ross, Rosenbloom, Joel, Wermuth, Peter J., Macarak, Edward J., Levin, Alex V., Mazo, Alexander, Walker, Janice L.

المصدر: Department of Biochemistry and Molecular Biology Faculty Papers

مصطلحات موضوعية: Epigenetics, Molecular mechanism of gene regulation, Molecular physiology, Transcriptomics, Dermatology, Medical Biochemistry, Medical Molecular Biology, Medical Pathology, Medicine and Health Sciences

وصف الملف: application/pdf

العلاقة: https://jdc.jefferson.edu/bmpfp/237Test; https://jdc.jefferson.edu/context/bmpfp/article/1238/viewcontent/1_s2.0_S2589004223006478_main.pdfTest

الإتاحة: https://jdc.jefferson.edu/bmpfp/237Test
https://jdc.jefferson.edu/context/bmpfp/article/1238/viewcontent/1_s2.0_S2589004223006478_main.pdfTest

المؤلفون: Protas, Meredith E, Weh, Eric, Footz, Tim, Kasberger, Jay, Baraban, Scott C, Levin, Alex V, Katz, L Jay, Ritch, Robert, Walter, Michael A, Semina, Elena V, Gould, Douglas B

المصدر: Human Molecular Genetics. 26(18)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Congenital Structural Anomalies, Pediatric, Human Genome, Eye Disease and Disorders of Vision, Mental Health, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Animals, Anterior Eye Segment, Conserved Sequence, DNA Copy Number Variations, Disease Models, Animal, Eye Abnormalities, Gene Deletion, Glaucoma, Homeodomain Proteins, Humans, Introns, Muscles, Mutation, Pedigree, Sequence Deletion, Transcription Factors, Zebrafish, Homeobox Protein PITX2, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3gx5x8nvTest
https://escholarship.org/content/qt3gx5x8nv/qt3gx5x8nv.pdfTest

المؤلفون: Sokoloff, Michael, Feldman, Kenneth W., Levin, Alex V., Rockter, Adam, Armijo-Garcia, Veronica, Musick, Matthew, Weeks, Kerri, Haney, Suzanne B., Marinello, Mark, Herman, Bruce E., Frazier, Terra N., Carroll, Christopher L., Hymel, Kent P.

المساهمون: Eunice Kennedy Shriver National Institute of Child Health and Human Development, Research to Prevent Blindness, Wei Family Private Foundation, Pennsylvania State University, Gerber Foundation, Dartmouth-Hitchcock Medical Center

المصدر: Child Abuse & Neglect ; volume 149, page 106606 ; ISSN 0145-2134

مصطلحات موضوعية: Psychiatry and Mental health, Developmental and Educational Psychology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.chiabu.2023.106606Test
https://api.elsevier.com/content/article/PII:S014521342300594X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S014521342300594X?httpAccept=text/plainTest

المؤلفون: Reis, Linda M., Maheshwari, Mohit, Capasso, Jenina, Atilla, Huban, Dudakova, Lubica, Thompson, Samuel, Zitano, Lia, Lay-Son, Guillermo, Lowry, R. Brian, Black, Jennifer, Lee, Joseph, Shue, Ann, Kremlikova Pourova, Radka, Vaneckova, Manuela, Skalicka, Pavlina, Jedlickova, Jana, Trkova, Marie, Williams, Bradley, Richard, Gabriele, Bachman, Kristine, Seeley, Andrea H., Costakos, Deborah, Glaser, Thomas M, Levin, Alex V., Liskova, Petra, Murray, Jeffrey C., Semina, Elena V.

المساهمون: National Eye Institute, National Institutes of Health

المصدر: Journal of Medical Genetics ; volume 60, issue 4, page 368-379 ; ISSN 0022-2593 1468-6244

الإتاحة: https://doi.org/10.1136/jmg-2022-108646Test

المؤلفون: Fasham, James, Lin, Siying, Ghosh, Promita, Radio, Francesca Clementina, Farrow, Emily G., Thiffault, Isabelle, Kussman, Jennifer, Zhou, Dihong, Hemming, Rick, Zahka, Kenneth, Chioza, Barry A., Rawlins, Lettie E., Wenger, Olivia K., Gunning, Adam C., Pizzi, Simone, Onesimo, Roberta, Zampino, Giuseppe, Barker, Emily, Osawa, Natasha, Rodriguez, Megan Christine, Neuhann, Teresa M., Zackai, Elaine H., Keena, Beth, Capasso, Jenina, Levin, Alex V., Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Wentzensen, Ingrid M., Jackson, Adam, Chandler, Kate E., Coban-Akdemir, Zeynep H., Posey, Jennifer E., Banka, Siddharth, Lupski, James R., Sheppard, Sarah E., Tartaglia, Marco, Triggs-Raine, Barbara, Crosby, Andrew H., Baple, Emma L.

المصدر: Genetics in Medicine ; volume 24, issue 3, page 631-644 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2021.10.014Test
https://api.elsevier.com/content/article/PII:S1098360021053661?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021053661?httpAccept=text/plainTest

المؤلفون: Kline, Antonie D, Calof, Anne L, Schaaf, Cheri A, Krantz, Ian D, Jyonouchi, Soma, Yokomori, Kyoko, Gauze, Maria, Carrico, Cheri S, Woodman, Julie, Gerton, Jennifer L, Vega, Hugo, Levin, Alex V, Shirahige, Katsuhiko, Champion, Michele, Goodban, Marjorie T, O'Connor, Julia T, Pipan, Mary, Horsfield, Julia, Deardorff, Matthew A, Ishman, Stacey L, Dorsett, Dale

المصدر: American Journal of Medical Genetics Part A. 164(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Acetyltransferases, Aging, Premature, Animals, Cell Cycle Proteins, Chromatin, Chromosomal Proteins, Non-Histone, Cognition Disorders, Craniofacial Abnormalities, De Lange Syndrome, Drosophila, Ectromelia, Feeding Behavior, Haploinsufficiency, Heart Defects, Congenital, Humans, Hypertelorism, Mice, Models, Animal, Polycomb-Group Proteins, Protein Biosynthesis, Proteins, Telomere Homeostasis, Zebrafish, de Lange syndrome, CdLS, cohesins, intellectual disability, Roberts syndrome, mice, zebrafish, drosophila, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/038197pnTest

المؤلفون: Bello, Nicholas R., Pisuchpen, Phattrawan, de Guimarães, Thales A. C., Capasso, Jenina E., Levin, Alex V.

المصدر: Retinal Cases & Brief Reports; Nov2023, Vol. 17 Issue 6, p714-718, 5p