المؤلفون: Denis Štepihar, Rebecca R. Florke Gee, Maria Camila Hoyos Sanchez, Klementina Fon Tacer

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: secretory granule, MAGEL2, anterograde and retrograde protein sorting, retromer, neuroendocrine cells, WASH complex, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1243038/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/5049cf6173e747568ee9942736bf0fe0

المؤلفون: Ana Maria Rodriguez, Katherine Schain, Parul Jayakar, Meredith S. Wright, Shimul Chowdhury, Daria Salyakina

المصدر: Clinical Case Reports, Vol 11, Iss 8, Pp n/a-n/a (2023)

مصطلحات موضوعية: ICU, MAGEL2, phenotype–genotype association, rapid whole genome sequencing, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/05e06569fdec4dc7b581d9e063ad1424

المؤلفون: Butler, Merlin G.^Aff4

المساهمون: Pfaff, Donald W., editor^Aff1, Volkow, Nora D., editor^Aff2, Rubenstein, John L., editor^Aff3

المصدر: Neuroscience in the 21st Century : From Basic to Clinical. :3563-3603

المؤلفون: Seung Hoon Lee, Seung Han Shin, Jung Min Ko, Boram Kim, Hyeon Sae Oh, Man Jin Kim, Seul Gi Park, Ee-Kyung Kim, Han-Suk Kim

المصدر: Neonatal Medicine, Vol 29, Iss 3, Pp 112-116 (2022)

مصطلحات موضوعية: schaaf-yang syndrome, magel2, respiratory distress, hearing impairment, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://neo-med.org/upload/pdf/nm-2022-29-3-112.pdf; https://doaj.org/toc/2287-9412; https://doaj.org/toc/2287-9803

URL الوصول: https://doaj.org/article/de4e4bed93c04833b55a4930bdab3326

المؤلفون: Derek L. Reznik, Mingxiao V. Yang, Pedro Albelda de la Haza, Antrix Jain, Melanie Spanjaard, Susanne Theiss, Christian P. Schaaf, Anna Malovannaya, Theresa V. Strong, Surabi Veeraragavan, Rodney C. Samaco

المصدر: Disease Models & Mechanisms, Vol 16, Iss 2 (2023)

مصطلحات موضوعية: schaaf-yang syndrome, prader-willi syndrome, magel2, imprinting, rat model, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/16/2/dmm049829; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/79466f972a5047ff8794b4cf8832cc73

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المؤلفون: Igarashi, Miki, Narayanaswami, Vidya, Kimonis, Virginia, Galassetti, Pietro M, Oveisi, Fariba, Jung, Kwang-Mook, Piomelli, Daniele

مصطلحات موضوعية: Jejunum, Animals, Mice, Inbred C57BL, Mice, Knockout, Mice, Prader-Willi Syndrome, Disease Models, Animal, Body Weight, Oleic Acids, Proteins, Antigens, Neoplasm, Endocannabinoids, Signal Transduction, Eating, Male, Feeding behavior, Hyperphagia, Magel2(m+/p−), Oleoylethanolamide, Peroxisome proliferator-activated receptor-α, Prevention, Genetics, Rare Diseases, Digestive Diseases, Behavioral and Social Science, Nutrition, Obesity, Aetiology, 2.1 Biological and endogenous factors, Stroke, Metabolic and endocrine, Cardiovascular, Cancer, Oral and gastrointestinal, Peroxisome proliferator-activated, receptor-alpha, Magel2(m+/P-), Pharmacology and Pharmaceutical Sciences, Pharmacology & Pharmacy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6416q4rf

المؤلفون: Shinsuke Mizuno, Koji Yokoyama, Atsushi Yokoyama, Takayuki Nukata, Yuka Ikeda, Shigeto Hara

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)

مصطلحات موضوعية: electroencephalography, MAGEL2, neurodevelopmental disorders, Schaaf‐Yang syndrome, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/51955a8ec7494325ba1fbed920e0f7fa

المؤلفون: Naixin Xu, Weihui Shi, Xianling Cao, Xuanyou Zhou, Hefeng Huang, Songchang Chen, Chenming Xu

المصدر: Journal of Clinical Medicine, Vol 12, Iss 4, p 1688 (2023)

مصطلحات موضوعية: Schaaf-Yang syndrome, MAGEL2, preimplantation genetic testing, prenatal diagnosis, genotype–phenotype correlation, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/12/4/1688; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/3fdb80a9c75246138915ac11dfe755fd

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