المؤلفون: Ikhlas Ben Ayed, Olfa Jallouli, Yoshiko Murakami, Amal Souissi, Salma Mallouli, Amal Bouzid, Fatma Kamoun, Ines Elloumi, Fakher Frikha, Abdelaziz Tlili, Sarah Weckhuysen, Taroh Kinoshita, Chahnez Charfi Triki, Saber Masmoudi

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: PIGT gene, global developmental delay, epilepsy, genotype phenotype correlation, GPI transamidase, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1092887/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/b81bd57e58bf4419a6550dcb1a914289

المؤلفون: Lam, Christina, Golas, Gretchen A, Davids, Mariska, Huizing, Marjan, Kane, Megan S, Krasnewich, Donna M, Malicdan, May Christine V, Adams, David R, Markello, Thomas C, Zein, Wadih M, Gropman, Andrea L, Lodish, Maya B, Stratakis, Constantine A, Maric, Irina, Rosenzweig, Sergio D, Baker, Eva H, Ferreira, Carlos R, Danylchuk, Noelle R, Kahler, Stephen, Garnica, Adolfo D, Schaefer, G Bradley, Boerkoel, Cornelius F, Gahl, William A, Wolfe, Lynne A

المصدر: Molecular Genetics and Metabolism. 115(2-3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Congenital Structural Anomalies, Clinical Research, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Acyltransferases, Child, Developmental Disabilities, Fibroblasts, Frameshift Mutation, Glycosylphosphatidylinositols, Heterozygote, Humans, Muscle Hypotonia, Mutation, Missense, Skin, PIGT-CDG, Congenital disorder of glycosylation, Glycosylphosphatidylinositol anchor, Phenotype, Flow cytometry, Exome, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4dk6v79c

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المؤلفون: Nakashima, Mitsuko, Kashii, Hirofumi, Murakami, Yoshiko, Kato, Mitsuhiro, Tsurusaki, Yoshinori, Miyake, Noriko, Kubota, Masaya, Kinoshita, Taroh, Saitsu, Hirotomo, Matsumoto, Naomichi

المصدر: neurogenetics. August 2014 15(3):193-200

المؤلفون: Nadia Skauli, Sean Wallace, Samuel C. C. Chiang, Tuva Barøy, Asbjørn Holmgren, Asbjørg Stray-Pedersen, Yenan T. Bryceson, Petter Strømme, Eirik Frengen, Doriana Misceo

المصدر: Genes, Vol 7, Iss 12, p 108 (2016)

مصطلحات موضوعية: cerebellar atrophy, craniofacial dysmorphism, developmental delay, epilepsy, GPI-anchors, MCAHS3, PIGT, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.mdpi.com/2073-4425/7/12/108; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/4b066bd739d14ac5b7f9a4d779b618c4

المؤلفون: Elena Gardella, Dejan Dukic, Denise Horn, Dragana Josifova, Jenny C. Taylor, Alexej Knaus, Agnieszka Charzewska, Rikke S. Møller, Helle Hjalgrim, Dorota Hoffman-Zacharska, Emma Clement, Rachel Horton, Usha Kini, Jane A. Hurst, Alistair T. Pagnamenta, Line H.G. Larsen, Karine Lascelles, Annika Wollenberg Juul, Allan Bayat, Mina Ryten, Deb K. Pal, Julie Vogt, Peter Krawitz, Ingo Helbig, Yvonne G. Weber, Manuela Pendziwiat, Ewa Obersztyn

المصدر: Bayat, A, Knaus, A, Juul, A W, Dukic, D, Gardella, E, Charzewska, A, Clement, E, Hjalgrim, H, Hoffman-Zacharska, D, Horn, D, Horton, R, Hurst, J A, Josifova, D, Larsen, L H G, Lascelles, K, Obersztyn, E, Pagnamenta, A, Pal, D K, Pendziwiat, M, Ryten, M, Taylor, J, Vogt, J, Weber, Y, Krawitz, P M, Helbig, I, Kini, U, Møller, R S & the DDD Study Group 2019, ' PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor : description of 13 novel patients and expansion of the clinical characteristics ', Genetics in Medicine, vol. 21, no. 10, pp. 2216-2223 . https://doi.org/10.1038/s41436-019-0512-3

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Genotype, Glycosylphosphatidylinositols, Developmental Disabilities, Neonatal onset, Compound heterozygosity, Epilepsy, congenital disorder of glycosylation, Seizures, genotype–phenotype, medicine, Humans, Abnormalities, Multiple, Glycosylphosphatidylinositol anchor, Child, Genetic Association Studies, Genetics (clinical), Genetic testing, medicine.diagnostic_test, business.industry, computer-assisted facial gestalt analysis, Homozygote, Infant, Newborn, Infant, medicine.disease, Phenotype, Hypotonia, Pedigree, Child, Preschool, Mutation, epilepsy, Female, medicine.symptom, PIGT-CDG, business, Congenital disorder of glycosylation, Acyltransferases

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97a8f9fe80714bf722e9a5580191af10
https://findresearcher.sdu.dk:8443/ws/files/170256040/PIGT_CDG_a_disorder_of_the_glycosylphosphatidylinositol_anchor_description_of.pdf

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