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: Anand, Neha S., Zemel, Babette S., Pipan, Mary, Kelly, Andrea, Magge, Sheela N.

المصدر: In Journal of the Academy of Nutrition and Dietetics February 2023 123(2):253-262

المؤلفون: Chua, Winona D., Pipan, Mary, Rosen, Alyssa R.

المصدر: In Current Problems in Pediatric and Adolescent Health Care September 2021 51(9)

المؤلفون: Kelly, Andrea, Magge, Sheela N., Walega, Rachel, Cochrane, Claire, Pipan, Mary E., Zemel, Babette S., Cohen, Meryl S., Gidding, Samuel S., Townsend, Ray

المصدر: In The Journal of Pediatrics September 2019 212:79-86

المؤلفون: Kline, Antonie D, Calof, Anne L, Schaaf, Cheri A, Krantz, Ian D, Jyonouchi, Soma, Yokomori, Kyoko, Gauze, Maria, Carrico, Cheri S, Woodman, Julie, Gerton, Jennifer L, Vega, Hugo, Levin, Alex V, Shirahige, Katsuhiko, Champion, Michele, Goodban, Marjorie T, O'Connor, Julia T, Pipan, Mary, Horsfield, Julia, Deardorff, Matthew A, Ishman, Stacey L, Dorsett, Dale

المصدر: American Journal of Medical Genetics Part A. 164(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Pediatric, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Acetyltransferases, Aging, Premature, Animals, Cell Cycle Proteins, Chromatin, Chromosomal Proteins, Non-Histone, Cognition Disorders, Craniofacial Abnormalities, De Lange Syndrome, Drosophila, Ectromelia, Feeding Behavior, Haploinsufficiency, Heart Defects, Congenital, Humans, Hypertelorism, Mice, Models, Animal, Polycomb-Group Proteins, Protein Biosynthesis, Proteins, Telomere Homeostasis, Zebrafish, de Lange syndrome, CdLS, cohesins, intellectual disability, Roberts syndrome, mice, zebrafish, drosophila, Genetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/038197pn

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المؤلفون: Kelly, Andrea^{Aff1, Aff2, Aff11}, Gidding, Samuel S., Walega, Rachel, Cochrane, Claire, Clauss, Sarah, Townsend, Ray R., Xanthopoulos, Melissa, Pipan, Mary E.^{Aff2, Aff8}, Zemel, Babette S.^{Aff2, Aff9}, Magge, Sheela N., Cohen, Meryl S.^{Aff2, Aff10}

المصدر: Pediatric Cardiology. 40(2):421-430

المؤلفون: Xanthopoulos, Melissa S. ^*, Walega, Rachel, Xiao, Rui, Prasad, Divya, Pipan, Mary M., Zemel, Babette S., Berkowitz, Robert I., Magge, Sheela N., Kelly, Andrea

المصدر: In The Journal of Pediatrics October 2017 189:98-104

المؤلفون: Pipan, Mary

المصدر: In Nelson Textbook of Pediatrics Edition: 22nd Edition. 2025:362-373