المؤلفون: Wang, Sifeng, Yan, Shuyuan, Xiao, Jingjun, Chen, Ying, Chen, Anji, Deng, Aimin, Wang, Tuanmei, He, Jun, Peng, Xiangwen^{Aff1, IDs13039023006540_cor9}

المصدر: Molecular Cytogenetics. 16(1)

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

URL الوصول: https://doaj.org/article/fdff42146b254fddbde76cca8f2d0189

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

URL الوصول: https://doaj.org/article/e4b80ad42b944357a225e0a8f39809fc

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

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

Relation: https://www.mdpi.com/2073-4425/15/2/211; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/0ee74b8eb3014def979ac69f8701f63a

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

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

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1085210/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/95dfcda6cdf842699d3002ebcc11ca75

المؤلفون: Katherine Buchanan, Erin Greenup, Anna C. E. Hurst, Bhuvana Sunil, Ambika P. Ashraf

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

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.1004114/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/254bc5ed9c5d4065a78ffe4b6f56ca30

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.