المؤلفون: Niharika Dihidar, BC Sarma, Shalaka Baidya

المصدر: Journal of Clinical and Diagnostic Research, Vol 18, Iss 07, Pp 01-05 (2024)

مصطلحات موضوعية: hand impairment, hemiplegia, neurodevelopmental disease, Medicine

وصف الملف: electronic resource

Relation: https://jcdr.net/articles/PDF/19572/67954_CE[Ra1]_F(IS)_QC&Ref_PAT(SD_SHU)_PF1(RI_SS_OM)_PFA(SS)_PB(OM)_PN(KM).pdf; https://doaj.org/toc/2249-782X; https://doaj.org/toc/0973-709X

URL الوصول: https://doaj.org/article/6525ca110faf40bdac2b3fa70df3fc3f

المؤلفون: Costa, Henrique Eloi^{Aff1, Aff2}, Cairrao, Elisa^{Aff1, Aff2, IDs00204023036140_cor2}

المصدر: Archives of Toxicology. 98(1):1-73

المؤلفون: Yap, Zheng Yie, Efthymiou, Stephanie, Seiffert, Simone, Parra, Karen Vargas, Lee, Sukyeong, Nasca, Alessia, Maroofian, Reza, Schrauwen, Isabelle, Pendziwiat, Manuela, Jung, Sunhee, Bhoj, Elizabeth, Striano, Pasquale, Mankad, Kshitij, Vona, Barbara, Cuddapah, Sanmati, Wagner, Anja, Alvi, Javeria Raza, Davoudi-Dehaghani, Elham, Fallah, Mohammad-Sadegh, Gannavarapu, Srinitya, Lamperti, Costanza, Legati, Andrea, Murtaza, Bibi Nazia, Nadeem, Muhammad Shahid, Rehman, Mujaddad Ur, Saeidi, Kolsoum, Salpietro, Vincenzo, von Spiczak, Sarah, Sandoval, Abigail, Zeinali, Sirous, Zeviani, Massimo, Reich, Adi, Group, SYNaPS Study, Genomics, University of Washington Center for Mendelian, Jang, Cholsoon, Helbig, Ingo, Barakat, Tahsin Stefan, Ghezzi, Daniele, Leal, Suzanne M, Weber, Yvonne, Houlden, Henry, Yoon, Wan Hee

المصدر: American Journal of Human Genetics. 108(12)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Clinical Research, Brain Disorders, Neurosciences, Neurodegenerative, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Neurological, Alleles, Animals, Ataxia, Cells, Cultured, Child, Cohort Studies, DNA Mutational Analysis, Drosophila melanogaster, Epilepsy, Family Health, Female, Fibroblasts, Hearing Loss, Humans, Ketoglutarate Dehydrogenase Complex, Male, Mutation, Neurodevelopmental Disorders, RNA Splicing, Vision Disorders, SYNaPS Study Group, University of Washington Center for Mendelian Genomics, CRISPR-Cas9 gene editing, DEE, Drosophila, OGDHL, bi-allelic, developmental and epileptic encephalopathy, exome sequencing, mitochondria, neurodevelopmental disease, α-ketoglutarate, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6480d7nc

المؤلفون: Kvalvik, Liv Grimstvedt, Klungsøyr, Kari, Igland, Jannicke, Caspersen, Ida Henriette, Brantsæter, Anne Lise, Solberg, Berit Skretting, Hartman, Catharina, Schweren, Lizanne Johanna Stephanie, Larsson, Henrik, 1975, Li, Lin, 1989, Forthun, Ingeborg, Johansson, Stefan, Arias Vasquez, Alejandro, Haavik, Jan

المصدر: European Journal of Nutrition. 61(4):2153-2166

مصطلحات موضوعية: ADHD, MBRN, Maternal nutrition, MoBa, Neurodevelopmental disease, Pregnancy, Sweetened carbonated beverages

وصف الملف: print

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-96829
https://doi.org/10.1007/s00394-022-02798-y

المؤلفون: El Ghaleb, Yousra^Aff11, Flucher, Bernhard E.^Aff11

المساهمون: Michel, Martin C., Editor-in-Chief^Aff1, Barrett, James E., Editorial Board Member^Aff2, Centurión, David, Editorial Board Member^Aff3, Flockerzi, Veit, Editorial Board Member^Aff4, Geppetti, Pierangelo, Editorial Board Member^Aff5, Hofmann, Franz B., Editorial Board Member^Aff6, Meier, Kathryn Elaine, Editorial Board Member^Aff7, Page, Clive P., Editorial Board Member^Aff8, Wang, KeWei, Editorial Board Member^Aff9, Striessnig, Jörg, editor^Aff10

المصدر: Voltage-gated Ca2+ Channels: Pharmacology, Modulation and their Role in Human Disease. 279:263-288

المؤلفون: Trujillo, Cleber A, Adams, Jason W, Negraes, Priscilla D, Carromeu, Cassiano, Tejwani, Leon, Acab, Allan, Tsuda, Ben, Thomas, Charles A, Sodhi, Neha, Fichter, Katherine M, Romero, Sarah, Zanella, Fabian, Sejnowski, Terrence J, Ulrich, Henning, Muotri, Alysson R

المصدر: EMBO Molecular Medicine. 13(1)

مصطلحات موضوعية: Rare Diseases, Stem Cell Research - Induced Pluripotent Stem Cell, Genetics, Neurodegenerative, Brain Disorders, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Pediatric, Neurosciences, Intellectual and Developmental Disabilities (IDD), Rett Syndrome, Stem Cell Research - Nonembryonic - Human, Stem Cell Research, Stem Cell Research - Embryonic - Human, Development of treatments and therapeutic interventions, Aetiology, 2.1 Biological and endogenous factors, 5.2 Cellular and gene therapies, Neurological, Congenital, Bridged Bicyclo Compounds, Heterocyclic, Female, Gene Knockout Techniques, Humans, Methyl-CpG-Binding Protein 2, Neurons, Organoids, Phenotype, Pyrrolidinones, Quinuclidines, cortical organoids, drug discovery, MECP2 mosaicism, neurodevelopmental disease modeling, stem cells, Biological Sciences, Medical and Health Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6ms5s334

المؤلفون: Iyshwarya, B.K, Vajagathali, M, Ramakrishnan, V^{Aff1, IDs4125202200251z_cor3}

المصدر: Advances in Neurodevelopmental Disorders: Multidisciplinary Research and Practice Across the Lifespan. 6(2):136-146

المؤلفون: Gianluca Tartaglia, Stephen Connelly

المصدر: Frontiers in Neuroscience, Vol 17 (2023)

مصطلحات موضوعية: saliva, neurodevelopmental disease, neurodegenerative disease, diagnostic, autism spectrum disorders, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2023.1141376/full; https://doaj.org/toc/1662-453X

URL الوصول: https://doaj.org/article/07234e18315945e2b863b5b2c007cc50

المؤلفون: Indelicato, Elisabetta^{Aff1, IDs13023022022188_cor1}, Zech, Michael^{Aff2, Aff3}, Amprosi, Matthias, Boesch, Sylvia

المصدر: Orphanet Journal of Rare Diseases. 17(1)

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