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1دورية أكاديمية
المؤلفون: Kaur, Maninder, Blair, Justin, Devkota, Batsal, Fortunato, Sierra, Clark, Dinah, Lawrence, Audrey, Kim, Jiwoo, Do, Wonwook, Semeo, Benjamin, Katz, Olivia, Mehta, Devanshi, Yamamoto, Nobuko, Schindler, Emma, Al Rawi, Zayd, Wallace, Nina, Wilde, Jonathan, McCallum, Jennifer, Liu, Jinglan, Xu, Dongbin, Jackson, Marie, Rentas, Stefan, Tayoun, Ahmad, Zhe, Zhang, Abdul-Rahman, Omar, Allen, Bill, Angula, Moris, Anyane-Yeboa, Kwame, Argente, Jesús, Arn, Pamela, Armstrong, Linlea, Basel-Salmon, Lina, Baynam, Gareth, Bird, Lynne, Bruegger, Daniel, Chng, Gaik-Siew, Chitayat, David, Clark, Robin, Cox, Gerald, Dave, Usha, DeBaere, Elfrede, Field, Michael, Graham, John, Gripp, Karen, Greenstein, Robert, Gupta, Neerja, Heidenreich, Randy, Hoffman, Jodi, Hopkin, Robert, Jones, Kenneth, Jones, Marilyn, Kariminejad, Ariana, Kogan, Jillene, Lace, Baiba, Leroy, Julian, Lynch, Sally, McDonald, Marie, Meagher, Kirsten, Mendelsohn, Nancy, Micule, Ieva, Moeschler, John, Nampoothiri, Sheela, Ohashi, Kaoru, Powell, Cynthia, Ramanathan, Subhadra, Raskin, Salmo, Roeder, Elizabeth, Rio, Marlene, Rope, Alan, Sangha, Karan, Scheuerle, Angela, Schneider, Adele, Shalev, Stavit, Siu, Victoria, Smith, Rosemarie, Stevens, Cathy, Tkemaladze, Tinatin, Toimie, John, Toriello, Helga, Turner, Anne, Wheeler, Patricia, White, Susan, Young, Terri, Loomes, Kathleen, Pipan, Mary, Harrington, Ann, Zackai, Elaine, Rajagopalan, Ramakrishnan, Conlin, Laura, Deardorff, Matthew, McEldrew, Deborah, Pie, Juan, Ramos, Feliciano, Musio, Antonio, Kline, Antonie, Izumi, Kosuke, Raible, Sarah, Krantz, Ian
المصدر: The American Journal of Medical Genetics - Part A. 191(8)
مصطلحات موضوعية: CdLS, Cornelia de Lange Syndrome, HDAC8, NIPBL, RAD21, SMC1A, SMC3, cohesin, genome, transcription, Humans, Nuclear Proteins, De Lange Syndrome, Transcription Factors, Cell Cycle Proteins, Phenotype, Mutation, Genomics, Genetic Association Studies, Transcriptional Elongation Factors, Histone Deacetylases, Repressor Proteins
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6nm6s2w1
https://escholarship.org/content/qt6nm6s2w1/qt6nm6s2w1.pdf -
2دورية أكاديمية
المؤلفون: Motoki Yamataka, MD, Satoshi Tsutsumi, MD, Natsuki Sugiyama, MD, Hideaki Ueno, MD, Hisato Ishii, MD
المصدر: Radiology Case Reports, Vol 19, Iss 12, Pp 5569-5574 (2024)
مصطلحات موضوعية: Cornelia de lange syndrome, Sinusitis, Ischemic stroke, Internal carotid artery, Medical physics. Medical radiology. Nuclear medicine, R895-920
وصف الملف: electronic resource
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3كتاب إلكتروني
المؤلفون: Perrot, AndreasAff10, Rickert-Sperling, SilkeAff11
المساهمون: Crusio, Wim E., Series EditorAff1, Dong, Haidong, Series EditorAff2, Radeke, Heinfried H., Series EditorAff3, Rezaei, Nima, Series EditorAff4, Steinlein, Ortrud, Series EditorAff5, Xiao, Junjie, Series EditorAff6, Rickert-Sperling, Silke, editorAff7, Kelly, Robert G., editorAff8, Haas, Nikolaus, editorAff9
المصدر: Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways. 1441:505-534
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4دورية أكاديمية
المؤلفون: Ng, RowenaAff1, Aff2, IDs13023024031041_cor1, O’Connor, JuliaAff1, Aff2, Summa, Deirdre, Kline, Antonie D.
المصدر: Orphanet Journal of Rare Diseases. 19(1)
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5دورية أكاديمية
المؤلفون: Tehrani Fateh, SahandAff1, Aff2, Mohammad Zadeh, Nadia, Salehpour, Shadab, Hashemi-Gorji, Farzad, Omidi, Ashkan, Sadeghi, Hossein, Mirfakhraie, Reza, Moghimi, ParinazAff1, Aff3, Keyvanfar, Sepideh, Mohammadi Sarvaleh, Sepideh, Miryounesi, MohammadAff1, Aff5, IDs12920024017987_cor11, Ghasemi, Mohammad-RezaAff1, Aff6, IDs12920024017987_cor12
المصدر: BMC Medical Genomics. 17(1)
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6دورية أكاديمية
المؤلفون: Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo, Ilaria Parenti, Elena Llorente, Juan José Puente-Lanzarote, Ángel Matute-Llorente, Ariadna Ayerza-Casas, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié Juste, Gloria Bueno-Lozano
المصدر: JCRPE, Vol 16, Iss 2, Pp 211-217 (2024)
مصطلحات موضوعية: cornelia de lange syndrome, homa-index, insulin resistance, endocrine evaluation and hypothalamic-pituitary axis, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Ángela Ascaso, María Arnedo, Beatriz Puisac, Ana Latorre-Pellicer, Julia del Rincón, Gloria Bueno-Lozano, Juan Pié, Feliciano J. Ramos
المصدر: Anales de Pediatría (English Edition), Vol 100, Iss 5, Pp 352-362 (2024)
مصطلحات موضوعية: SCdL, Síndrome Cornelia de Lange, Cohesina, NIPBL, HDAC8, SMC1A, Pediatrics, RJ1-570
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Yamazaki, Yu, Isohata, Hitoshi, Goto, Hiroyuki, Yoshimura, Yoshihiro, Hattori, Kyoko, Shimaoka, Takao, Sekiguchi, Kazuki, Onishi, Yoko, Ochiai, DaigoAff1, IDs10396024014106_cor9
المصدر: Journal of Medical Ultrasonics. 51(2):363-364
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9دورية أكاديمية
المؤلفون: Rowena Ng, Julia O’Connor, Deirdre Summa, Antonie D. Kline
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Genetics/genetic disorders, NIPBL, SMC1A, Cornelia de Lange syndrome, Development, Behavior functioning, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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10دورية أكاديمية
المؤلفون: Sahand Tehrani Fateh, Nadia Mohammad Zadeh, Shadab Salehpour, Farzad Hashemi-Gorji, Ashkan Omidi, Hossein Sadeghi, Reza Mirfakhraie, Parinaz Moghimi, Sepideh Keyvanfar, Sepideh Mohammadi Sarvaleh, Mohammad Miryounesi, Mohammad-Reza Ghasemi
المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
مصطلحات موضوعية: Cornelia de Lange Syndrome (CdLS), Whole exome sequencing, Novel variant, NIPBL gene, SMC1A gene, Mosaicism, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8794