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1دورية أكاديمية
المؤلفون: Piero Pavone, Xena Giada Pappalardo, Claudia Parano, Enrico Parano, Antonio Corsello, Martino Ruggieri, Giovanni Cacciaguerra, Raffaele Falsaperla
المصدر: Global Medical Genetics, Vol 10, Iss 04, Pp 370-375 (2023)
مصطلحات موضوعية: case report, microtia, 16p13.11 deletion, genotype–phenotype correlation, Genetics, QH426-470, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2699-9404Test
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2دورية أكاديمية
المؤلفون: Chiara Auwerx, Maarja Jõeloo, Marie C. Sadler, Nicolò Tesio, Sven Ojavee, Charlie J. Clark, Reedik Mägi, Alexandre Reymond, Zoltán Kutalik
مصطلحات موضوعية: Genetics, Structural variation, CNV, GWAS, Time-to-event analysis, Common diseases, Pleiotropy, 16p13.11, 16p11.2, Genomic disorders
الإتاحة: https://doi.org/10.6084/m9.figshare.24955993.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Rare_copy-number_variants_as_modulators_of_common_disease_susceptibility/24955993Test -
3دورية أكاديمية
المؤلفون: Hiroki Kimura, Itaru Kushima, Masahiro Banno, Toshiya Inada, Akira Yoshimi, Branko Aleksic, Norio Ozaki
المصدر: Neuropsychopharmacology Reports, Vol 43, Iss 2, Pp 267-271 (2023)
مصطلحات موضوعية: 16p13.11 duplication, copy number variation, NDE1, schizophrenia, VPS13B, Therapeutics. Pharmacology, RM1-950, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2574-173XTest
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4دورية أكاديمية
المؤلفون: Fidan Hande, Kerem Günel Mintaze, Haliloğlu Göknur, Ütine Gülen Eda, Kiper Pelin Özlem Şimşek
المصدر: Sanamed, Vol 17, Iss 3, Pp 189-193 (2022)
مصطلحات موضوعية: 16p13.11 microduplication syndrome, icf, activity, participation, environmental factors, Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://www.sanamed.rs/OJS/index.php/Sanamed/article/view/561/312Test; https://doaj.org/toc/1452-662XTest; https://doaj.org/toc/2217-8171Test
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5دورية أكاديمية
المؤلفون: Meiying Cai, Yanting Que, Xuemei Chen, Yuqing Chen, Bin Liang, Hailong Huang, Liangpu Xu, Na Lin
المصدر: BMC Pregnancy and Childbirth, Vol 22, Iss 1, Pp 1-7 (2022)
مصطلحات موضوعية: 16p13.11, Nuchal translucency, SNP-array, Phenotypic characteristics, microdeletion/microduplication, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2393Test
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6دورية أكاديمية
المؤلفون: Pavone P, Pappalardo XG, Parano C, Parano E, Corsello A, Ruggieri M, Cacciaguerra G, Falsaperla R
المساهمون: Pavone, P, Pappalardo, Xg, Parano, C, Parano, E, Corsello, A, Ruggieri, M, Cacciaguerra, G, Falsaperla, R
مصطلحات موضوعية: case report, microtia, 16p13.11 deletion, genotype–phenotype correlation
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:001113427100001; volume:10; issue:4; firstpage:370; lastpage:375; numberofpages:6; journal:GLOBAL MEDICAL GENETICS; https://hdl.handle.net/11392/2538044Test; https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0043-1777362Test
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7دورية أكاديمية
المؤلفون: Montanucci, Ludovica, Lewis-Smith, David, Collins, Ryan L., Niestroj, Lisa-Marie, Parthasarathy, Shridhar, Xian, Julie, Ganesan, Shiva
مصطلحات موضوعية: Generalized Epilepsy, Ilae Commission, Chromosomal Microarray, 15q13.3 Microdeletions, Structural Variation, 16p13.11 Predispose, Position Paper, Risk, Spectrum, Variants
العلاقة: Nature Communications; Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.1038/s41467-023-39539-6Test; https://hdl.handle.net/20.500.12831/18374Test; 14; WOS:001040020600007; 2-s2.0-85165735871
الإتاحة: https://doi.org/10.1038/s41467-023-39539-6Test
https://doi.org/20.500.12831/18374Test
https://hdl.handle.net/20.500.12831/18374Test -
8دورية أكاديمية
المؤلفون: Hamad, Asma, Sherlaw-Sturrock, Charlotte A., Glover, Kate, Salmon, Rachel, Low, Karen, Nair, Ramya, Sansbury, Francis H., Rawlins, Lettie E., Carmichael, Jenny, Horton, Rachael, Wedderburn, Sarah, Edgerley, Katherine, Irving, Rachel, Callaghan, Mary, Mercer, Catherine, McGowan, Ruth, Robert, Leema, Titheradge, Hannah, Naik, Swati
المصدر: Hamad , A , Sherlaw-Sturrock , C A , Glover , K , Salmon , R , Low , K , Nair , R , Sansbury , F H , Rawlins , L E , Carmichael , J , Horton , R , Wedderburn , S , Edgerley , K , Irving , R , Callaghan , M , Mercer , C , McGowan , R , Robert , L , Titheradge , H & Naik , S 2023 , ' Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication : A multicentric analysis of 206 patients ' , European ....
مصطلحات موضوعية: 16p13.11 micro duplication, Aortic dilatation, Congenital heart defect
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ejmg.2023.104714Test
https://hdl.handle.net/1983/199d897b-59c4-4e45-a038-a9ec4c74d215Test
https://research-information.bris.ac.uk/en/publications/199d897b-59c4-4e45-a038-a9ec4c74d215Test
https://research-information.bris.ac.uk/ws/files/361718250/Chromosome16p13.11_duplication_clean_copy_231122_final.pdfTest -
9دورية أكاديمية
المؤلفون: Elizabeth D. Buttermore, Nickesha C. Anderson, Pin-Fang Chen, Nina R. Makhortova, Kristina H. Kim, Syed M. A. Wafa, Sean Dwyer, John M. Micozzi, Kellen D. Winden, Bo Zhang, Min-Joon Han, Robin J. Kleiman, Catherine A. Brownstein, Mustafa Sahin, Joseph Gonzalez-Heydrich
المصدر: Frontiers in Psychiatry, Vol 13 (2022)
مصطلحات موضوعية: iPSC-derived neurons, neuropsychiatric disorders, 16p13.11 deletion, neurite morphology, synapses, in vitro modeling, Psychiatry, RC435-571
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fpsyt.2022.924956/fullTest; https://doaj.org/toc/1664-0640Test
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10دورية أكاديمية
المؤلفون: Paola Granata, Dario Cocciadiferro, Alessandra Zito, Chiara Pessina, Alessandro Bassani, Fabio Zambonin, Antonio Novelli, Mauro Fasano, Rosario Casalone
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: 16p13.11 microdeletion, copy number variants (CNVs), whole exome sequencing (WES), neurodevelopmental disorders, protein-protein interactions (PPIs), Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.798607/fullTest; https://doaj.org/toc/1664-8021Test
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