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1دورية أكاديمية
المؤلفون: Perge, Kevin, Capel, Emilie, Villanueva, Carine, Gautheron, Jérémie, Diallo, Safiatou, Auclair, Martine, Rondeau, Sophie, Morichon, Romain, Brioude, Frédéric, Jéru, Isabelle, Rossi, Massimiliamo, Nicolino, Marc, Vigouroux, Corinne
المساهمون: Hospices Civils de Lyon (HCL), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité Mixte de Service d'Imagerie et de Cytométrie CHU Saint-Antoine (UMS LUMIC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Saint-Antoine AP-HP
المصدر: ISSN: 0804-4643.
مصطلحات موضوعية: insulin resistance, POC1A, lipodystrophy, [SDV]Life Sciences [q-bio]
العلاقة: hal-04455965; https://hal.sorbonne-universite.fr/hal-04455965Test; https://hal.sorbonne-universite.fr/hal-04455965/documentTest; https://hal.sorbonne-universite.fr/hal-04455965/file/lvae009.pdfTest
الإتاحة: https://doi.org/10.1093/ejendo/lvae009Test
https://hal.sorbonne-universite.fr/hal-04455965Test
https://hal.sorbonne-universite.fr/hal-04455965/documentTest
https://hal.sorbonne-universite.fr/hal-04455965/file/lvae009.pdfTest -
2دورية أكاديمية
المؤلفون: Sema Satici, Ahsen Kartal, Elif Dilara Topcuoglu, Zahra Polat
المصدر: The Egyptian Journal of Otolaryngology, Vol 39, Iss 1, Pp 1-6 (2023)
مصطلحات موضوعية: SOFT syndrome, POC1A gene, Hearing loss, Otorhinolaryngology, RF1-547
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2090-8539Test
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3دورية أكاديمية
المؤلفون: Dongfeng Li, Shihui Li, Jingjing Zhou, Lili Zheng, Gui Liu, Chengzhang Ding, Xingyun Yuan
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: special type of diabetes mellitus, POC1A, gene mutation, SOFT syndrome, insulin resistance, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1113314/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Guoqiang Li, Guoying Chang, Chen Wang, Tingting Yu, Niu Li, Xiaodong Huang, Xiumin Wang, Jian Wang, Jiwen Wang, Ruen Yao
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021)
مصطلحات موضوعية: SOFT syndrome, POC1A, Splicing variant, Short stature, Case report, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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5دورية أكاديمية
المؤلفون: Guoqiang Li (417937), Guoying Chang (5844743), Chen Wang (88408), Tingting Yu (419018), Niu Li (2479543), Xiaodong Huang (1484986), Xiumin Wang (3157149), Jian Wang (5901), Jiwen Wang (4824936), Ruen Yao (9751890)
مصطلحات موضوعية: Genetics, SOFT syndrome, POC1A, Splicing variant, Short stature, Case report
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6دورية أكاديمية
المؤلفون: Batu Oto B., Ağırbaşlı D., Kılıçarslan O., Celik G., Kalayci Yigin A., Seven M., Yetik H.
مصطلحات موضوعية: DDR2 genes, POC1A gene, retinal dystrophy, SOFT syndrome, discoidin domain receptor 2, DNA, DNA fragment, genomic DNA, poc1a protein, protein, tbx22 protein, unclassified drug, cell cycle protein, cytoskeleton protein, human, anterior eye segment, Article, autofluorescence, B wave, biomicroscopy, birth length, birth weight, blood analysis, case report, cesarean section, child, chin, clinical article, clinical evaluation, consultation
العلاقة: Ophthalmic Genetics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1080/13816810.2022.2103837Test; https://hdl.handle.net/20.500.12831/19659Test; 44; 70; 73; 2-s2.0-85135462318
الإتاحة: https://doi.org/10.1080/13816810.2022.2103837Test
https://doi.org/20.500.12831/19659Test
https://hdl.handle.net/20.500.12831/19659Test -
7دورية أكاديمية
المؤلفون: Christian Gatz, Denisa Hathazi, Ute Münchberg, Stephan Buchkremer, Thomas Labisch, Ben Munro, Rita Horvath, Ana Töpf, Joachim Weis, Andreas Roos
المصدر: Frontiers in Neurology, Vol 10 (2019)
مصطلحات موضوعية: SIL1-interactome, Marinesco-Sjögren syndrome biomarkers, SIL1 missense mutation, POC1A, FAM134B, centrosome, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2019.00562/fullTest; https://doaj.org/toc/1664-2295Test
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8دورية أكاديمية
المؤلفون: Oto, Bilge Batu, Kilicarslan, Oguzhan, Sarici, Ahmet Murat
مصطلحات موضوعية: SOFT syndrome, retinal dystrophy, POC1A gene, DDR2 genes, Mutation
العلاقة: Ophthalmic Genetics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1080/13816810.2022.2103837Test; https://hdl.handle.net/20.500.12831/7988Test; WOS:000836551700001; 2-s2.0-85135462318
الإتاحة: https://doi.org/10.1080/13816810.2022.2103837Test
https://doi.org/20.500.12831/7988Test
https://hdl.handle.net/20.500.12831/7988Test -
9
المؤلفون: Yao-Hui Wang, Chao-Hui Zheng, Jian-Xian Lin, Ping Li, Jia-Bin Wang, Xiao-yan Huang, Chang-Ming Huang, Qi-Yue Chen, Long-Long Cao, Jun Lu, Jian-Wei Xie
المصدر: Aging (Albany NY)
مصطلحات موضوعية: lymphocytes, Aging, immune infiltration, Cell growth, gastric cancer, Cancer, Cell Biology, Cell cycle, Biology, medicine.disease, law.invention, POC1A, law, Cancer research, CEBPB, medicine, Suppressor, Immunohistochemistry, cell cycle, KEGG, Gene, Research Paper
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d29ea18d0733eb20f5268a3b622d6ae6Test
https://doi.org/10.18632/aging.103624Test -
10
المؤلفون: Tingting Yu, Xiaodong Huang, Jian Wang, Niu Li, Xiumin Wang, Guoqiang Li, Ruen Yao, Jiwen Wang, Chen Wang, Guoying Chang
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-5 (2021)
BMC Medical Genomicsمصطلحات موضوعية: Proband, Dwarfism, QH426-470, Short stature, Splicing variant, POC1A, Exon, symbols.namesake, Case report, Genetics, medicine, Internal medicine, Acanthosis nigricans, SOFT syndrome, Genetics (clinical), Sanger sequencing, business.industry, medicine.disease, RC31-1245, Human genetics, RNA splicing, symbols, medicine.symptom, Primordial dwarfism, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4325705774f56e1d42292f2df2ede1aeTest
https://doi.org/10.1186/s12920-021-01055-1Test