المؤلفون: Sue Lyn Tan, Muhammad Ghazali bin Ahmad Narihan, Ai Jiun Koa

المصدر: BMC Pediatrics, Vol 23, Iss 1, Pp 1-6 (2023)

مصطلحات موضوعية: Hypertriglyceridemia, Coffin-Lowry syndrome, Intrauterine growth restriction, Lipaemic plasma, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2431Test

الوصول الحر: https://doaj.org/article/2861e3aa6b88487082ea33f23b4dd556Test

المؤلفون: Laurine Gonzalez, Catherine Sébrié, Serge Laroche, Cyrille Vaillend, Roseline Poirier

المصدر: Neurobiology of Disease, Vol 183, Iss , Pp 106163- (2023)

مصطلحات موضوعية: Postnatal behavior, Intellectual disability, Neurodevelopmental disorders, Brain development, Cognitive development, Coffin-Lowry syndrome, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S096999612300178XTest; https://doaj.org/toc/1095-953XTest

الوصول الحر: https://doaj.org/article/eee0086b2a0f496686e6e1b82986cf6bTest

المؤلفون: Gonzalez, Laurine, Sébrié, Catherine, Laroche, Serge, Vaillend, Cyrille, Poirier, Roseline

المساهمون: Institut des Neurosciences Paris-Saclay (NeuroPSI), Université Paris-Saclay-Centre National de la Recherche Scientifique (CNRS), LaBoratoire d'Imagerie biOmédicale MultimodAle Paris-Saclay (BIOMAPS), Service Hospitalier Frédéric Joliot (SHFJ), Université Paris-Saclay-Institut des Sciences du Vivant Frédéric JOLIOT (JOLIOT), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Saclay-Institut des Sciences du Vivant Frédéric JOLIOT (JOLIOT), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 0969-9961.

مصطلحات موضوعية: Brain development, Coffin-Lowry syndrome, Cognitive development, Intellectual disability, Neurodevelopmental disorders, Postnatal behavior, MESH: Animals, MESH: Mice, MESH: Male, MESH: Intellectual Disability, MESH: Brain, MESH: Cognition, MESH: Coffin-Lowry Syndrome, MESH: Disease Models, Animal, Knockout, [SDV.NEU.SC]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Cognitive Sciences, [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37270162; hal-04173450; https://cnrs.hal.science/hal-04173450Test; https://cnrs.hal.science/hal-04173450/documentTest; https://cnrs.hal.science/hal-04173450/file/Delayed-postnatal-brain-development-ontogenesis-0-S096999612300178X.pdfTest; PUBMED: 37270162

الإتاحة: https://doi.org/10.1016/j.nbd.2023.106163Test
https://cnrs.hal.science/hal-04173450Test
https://cnrs.hal.science/hal-04173450/documentTest
https://cnrs.hal.science/hal-04173450/file/Delayed-postnatal-brain-development-ontogenesis-0-S096999612300178X.pdfTest

المؤلفون: Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin

المصدر: Annals of Pediatric Endocrinology & Metabolism, Vol 28, Iss 1, Pp 67-72 (2022)

مصطلحات موضوعية: coffin-lowry syndrome, x-linked inheritance, short stature, developmental delay, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://e-apem.org/upload/pdf/apem-2142134-067.pdfTest; https://doaj.org/toc/2287-1012Test; https://doaj.org/toc/2287-1292Test

الوصول الحر: https://doaj.org/article/2c7a73e1f338406a9c811f673589a668Test

المؤلفون: Yan Cong, Hongxing Jin, Ke Wu, Hao Wang, Dong Wang

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: Coffin–Lowry syndrome, loss-of-function, intellectual disability, menstrual disorder, whole-exome sequencing, RPS6KA3 c.898C>T mutation, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.900226/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/969aab988d1744c6a9b20519784ca44cTest

المؤلفون: Miyata, Yohane^1,2 miyata-y@ks.kyorin-u.ac.jp, Saida, Ken³, Kumada, Satoko¹, Miyake, Noriko³, Mashimo, Hideaki¹, Nishida, Yuya¹, Shirai, Ikuko¹, Kurihara, Eiji¹, Nakata, Yasuhiro⁴, Matsumoto, Naomichi³

المصدر: Brain & Development. Aug2018, Vol. 40 Issue 7, p566-569. 4p.

مصطلحات موضوعية: *COFFIN-Lowry syndrome, *X-linked genetic disorders, *MUSCLE dysmorphia, *MAGNETIC resonance imaging, *GENETIC mutation

المؤلفون: Welborn, M.¹ mwelborn@shrinenet.org, Farrell, S.¹, Knott, P.², Mayekar, E.³, Mardjetko, S.⁴

المصدر: Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery). Feb2018, Vol. 12 Issue 1, p70-75. 6p.

مصطلحات موضوعية: *COFFIN-Lowry syndrome, *SPINE abnormalities, *DISEASE progression, *SPINAL surgery, *CLINICAL trials

المؤلفون: Huiying Jin, Haifeng Li, Shu Qiang

المصدر: Medicina; Volume 58; Issue 7; Pages: 958

مصطلحات موضوعية: twins, ribosomal protein S6 kinase polypeptide 3 ( RPS6KA3 ), Coffin-Lowry Syndrome

وصف الملف: application/pdf

العلاقة: Pediatrics; https://dx.doi.org/10.3390/medicina58070958Test

الإتاحة: https://doi.org/10.3390/medicina58070958Test

المؤلفون: Kaori Yamoto, Hirotomo Saitsu, Yasuko Fujisawa, Fumiko Kato, Keiko Matsubara, Maki Fukami, Masayo Kagami, Tsutomu Ogata

المصدر: Clinical Case Reports, Vol 8, Iss 6, Pp 1076-1080 (2020)

مصطلحات موضوعية: Coffin‐Lowry syndrome, RPS6KA3, translocation, whole genome sequencing, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/88572c780e884dd9bab5be01acc686f3Test

المؤلفون: Lesch, Klaus-Peter, Fischer, Matthias¹, Cabello, Victoria¹, Hommers, Leif¹, Deckert, Jürgen¹, Schmitt-Böhrer, Angelika¹, Popp, Sandy², Krackow, Sven³

المصدر: Behavior Genetics. Jul2017, Vol. 47 Issue 4, p434-448. 15p.

مصطلحات موضوعية: *COFFIN-Lowry syndrome, *RIBOSOMAL proteins, *PERSONALITY disorders, *COGNITIVE ability, *MICE behavior, *LABORATORY mice