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1دورية أكاديمية
المؤلفون: Wang, Sifeng, Yan, Shuyuan, Xiao, Jingjun, Chen, Ying, Chen, Anji, Deng, Aimin, Wang, Tuanmei, He, Jun, Peng, XiangwenAff1, IDs13039023006540_cor9
المصدر: Molecular Cytogenetics. 16(1)
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2دورية أكاديمية
المؤلفون: Jianing Niu, Xiaoming Teng, Junyu Zhang
المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 3, Pp n/a-n/a (2024)
مصطلحات موضوعية: KMT2A, RNA analysis, whole exome sequencing, Wiedemann–Steiner syndrome, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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3دورية أكاديمية
المؤلفون: Sifeng Wang, Shuyuan Yan, Jingjun Xiao, Ying Chen, Anji Chen, Aimin Deng, Tuanmei Wang, Jun He, Xiangwen Peng
المصدر: Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-5 (2023)
مصطلحات موضوعية: Wiedemann–Steiner syndrome, KMT2A, ADAMTS8, Early teething, Rapid tooth replacement, Dysplastic enamel, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1755-8166
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4دورية أكاديمية
المؤلفون: Sheppard, Sarah E, Campbell, Ian M, Harr, Margaret H, Gold, Nina, Li, Dong, Bjornsson, Hans T, Cohen, Julie S, Fahrner, Jill A, Fatemi, Ali, Harris, Jacqueline R, Nowak, Catherine, Stevens, Cathy A, Grand, Katheryn, Au, Margaret, Graham, John M, Sanchez‐Lara, Pedro A, Del Campo, Miguel, Jones, Marilyn C, Abdul‐Rahman, Omar, Alkuraya, Fowzan S, Bassetti, Jennifer A, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D, Derar, Nada, Gripp, Karen W, Hauser, Natalie, Innes, A Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J, Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T, Slavotinek, Anne, Sobering, Andrew K, Abbott, Mary‐Alice, Allain, Dawn C, Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A, Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A, Dubbs, Holly, Felix, Carolyn A, Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K, Johnson, Amy E Knight, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D Ross, Mentch, Frank D, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F, Porazzi, Patrizia, Pichurin, Pavel N, Powell‐Hamilton, Nina N, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J, Falk, Marni J
المصدر: American Journal of Medical Genetics Part A. 185(6)
مصطلحات موضوعية: Congenital Structural Anomalies, Clinical Research, Brain Disorders, Rare Diseases, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Black People, Constipation, Failure to Thrive, Genetic Association Studies, Genetic Predisposition to Disease, Growth Disorders, Histone-Lysine N-Methyltransferase, Humans, Hypertrichosis, Intellectual Disability, Loss of Function Mutation, Myeloid-Lymphoid Leukemia Protein, Retrospective Studies, White People, hypertrichosis, KMT2A, MLL1, syndromic intellectual disability, syndromic short stature, Wiedemann‐, Steiner syndrome, Wiedemann-Steiner syndrome, Genetics, Clinical Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/0xp4224d
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5دورية أكاديمية
المؤلفون: Henrique Garcia Silveira, Carlos Eduardo Steiner, Giovana Toccoli, Luise Longo Angeloni, Júlia Lôndero Heleno, Samira Spineli-Silva, Ana Mondadori dos Santos, Társis Paiva Vieira, Maria Isabel Melaragno, Vera Lúcia Gil-da-Silva-Lopes
المصدر: Genes, Vol 15, Iss 2, p 211 (2024)
مصطلحات موضوعية: 22q11.2 deletion syndrome, Wiedemann–Steiner syndrome, KMT2A, phenotype, deep phenotyping, differential diagnosis, Genetics, QH426-470
وصف الملف: electronic resource
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6دورية أكاديمية
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7دورية أكاديمية
المؤلفون: Yunting Lin, Xiaohong Chen, Bobo Xie, Zhihong Guan, Xiaodan Chen, Xiuzhen Li, Peng Yi, Rong Du, Huifen Mei, Li Liu, Wen Zhang, Chunhua Zeng
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: Wiedemann-Steiner syndrome, KMT2A gene, clinical characteristics, genetic spectrum, therapeutic effect, Chinese, Genetics, QH426-470
وصف الملف: electronic resource
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8دورية أكاديمية
المصدر: Frontiers in Endocrinology, Vol 13 (2022)
مصطلحات موضوعية: 11-Ketotestosterone, Advanced Bone Age, Wiedemann-Steiner Syndrome, adrenarche, adrenal steroidogenesis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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9دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.