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

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

Relation: http://www.sciencedirect.com/science/article/pii/S1930043324008549; https://doaj.org/toc/1930-0433

URL الوصول: https://doaj.org/article/a1494db9881d43f2b89a76bbbfc948b3

المؤلفون: Perrot, Andreas^Aff10, Rickert-Sperling, Silke^Aff11

المساهمون: Crusio, Wim E., Series Editor^Aff1, Dong, Haidong, Series Editor^Aff2, Radeke, Heinfried H., Series Editor^Aff3, Rezaei, Nima, Series Editor^Aff4, Steinlein, Ortrud, Series Editor^Aff5, Xiao, Junjie, Series Editor^Aff6, Rickert-Sperling, Silke, editor^Aff7, Kelly, Robert G., editor^Aff8, Haas, Nikolaus, editor^Aff9

المصدر: Congenital Heart Diseases: The Broken Heart : Clinical Features, Human Genetics and Molecular Pathways. 1441:505-534

المؤلفون: Ng, Rowena^{Aff1, Aff2, IDs13023024031041_cor1}, O’Connor, Julia^{Aff1, Aff2}, Summa, Deirdre, Kline, Antonie D.

المصدر: Orphanet Journal of Rare Diseases. 19(1)

المؤلفون: Tehrani Fateh, Sahand^{Aff1, Aff2}, Mohammad Zadeh, Nadia, Salehpour, Shadab, Hashemi-Gorji, Farzad, Omidi, Ashkan, Sadeghi, Hossein, Mirfakhraie, Reza, Moghimi, Parinaz^{Aff1, Aff3}, Keyvanfar, Sepideh, Mohammadi Sarvaleh, Sepideh, Miryounesi, Mohammad^{Aff1, Aff5, IDs12920024017987_cor11}, Ghasemi, Mohammad-Reza^{Aff1, Aff6, IDs12920024017987_cor12}

المصدر: BMC Medical Genomics. 17(1)

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

Relation: https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-81894&look4=; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735

URL الوصول: https://doaj.org/article/7bd73cdcf3334e3ab419baea7aaf29f1

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

Relation: http://www.sciencedirect.com/science/article/pii/S2341287924001388; https://doaj.org/toc/2341-2879

URL الوصول: https://doaj.org/article/b32335af8e744f76992bc585fbcb8e14

المؤلفون: Yamazaki, Yu, Isohata, Hitoshi, Goto, Hiroyuki, Yoshimura, Yoshihiro, Hattori, Kyoko, Shimaoka, Takao, Sekiguchi, Kazuki, Onishi, Yoko, Ochiai, Daigo^{Aff1, IDs10396024014106_cor9}

المصدر: Journal of Medical Ultrasonics. 51(2):363-364

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

URL الوصول: https://doaj.org/article/39c166cf3f294269bcfba60bb9372e91

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

URL الوصول: https://doaj.org/article/5ebbdb586b0648b19407e2f71ebb7369