Zoekresultaten - "mutation"

Hypodontia and WNT10A mutation: A case report door Živković-Sandić Marija, Stefanović Neda, Popović Branka, Glišić Branislav

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Oxidative DNA Damage and Repair: Mechanisms, Mutations, and Relation to Diseases door Marina Roginskaya, Yuriy Razskazovskiy

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Mapping mutations in a mouse model of Meckel-Gruber syndrome

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A novel mutation in an adolescent presenting with growth and pubertal delay door Maria-Christina Antoniou, Thérèse Bouthors, Cheng Xu, Franziska Phan-Hug, Eglantine Elowe-Gruau, Sophie Stoppa-Vaucher, Almer van der Sloot, James Acierno, Daniele Cassatella, Celine Richard, Andrew Dwyer, Nelly Pitteloud, Michael Hauschild

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An immunocompetent patient with a nonsense mutation in NHEJ1 gene door Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Zahra Hojaji, Parham Habibzadeh, Dorna Afshinfar, Mohammad Miryounesi, Majid Fardaei, Mohammad Ali Faghihi

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Novel mutation of the NOTCH3 gene in Arabic family with CADASIL door Saeed Bohlega

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Therapeutic Implications of Ceritinib in Cholangiocarcinoma beyond ALK Expression and Mutation door Kyaw Zwar Myint, Brinda Balasubramanian, Simran Venkatraman, Suchada Phimsen, Supisara Sripramote, Jeranan Jantra, Chaiwat Choeiphuk, Somkit Mingphruedhi, Paramin Muangkaew, Narongsak Rungsakulkij, Pongsatorn Tangtawee, Wikran Suragul, Watoo Vassanasiri Farquharson, Kanokpan Wongprasert, Somchai Chutipongtanate, Pimtip Sanvarinda, Marisa Ponpuak, Naravat Poungvarin, Tavan Janvilisri, Tuangporn Suthiphongchai, Kiren Yacqub-Usman, Anna M. Grabowska, David O. Bates, Rutaiwan Tohtong

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Uterine carcinosarcoma associated with a germline nibrin (NBN) mutation door Tahireh Markert, David L. Kolin, Panagiotis A. Konstantinopoulos

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Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene door Xiaona Luo, Chunmei Wang, Longlong Lin, Fang Yuan, Simei Wang, Yilin Wang, Anqi Wang, Chao Wang, Shengnan Wu, Xiaoping Lan, Quanmei Xu, Rongrong Yin, Hongyi Cheng, Yuanfeng Zhang, Jiaming Xi, Jie Zhang, Xiaomin Sun, Jingbin Yan, Fanyi Zeng, Yucai Chen, Yucai Chen

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Novel mutations in NOTCH2 gene in infants with neonatal cholestasis door Eliana Shaul, Debora Kogan-Liberman, Stephanie Schuckalo, Dominique Jan, Michelle Ewart, Trang Nguyen, Mercedes Martinez, Nadia Ovchinsky

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Mutations in <it>STK11 </it>gene in Czech Peutz-Jeghers patients door Křepelová Anna, Roubalík Jan, Puchmajerová Alena, Vasovčák Peter

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Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis door Latifa Chkioua, Yessine Amri, Chaima Saheli, Wassila Mili, Sameh Mabrouk, Imen Chabchoub, Hela Boudabous, Wissem Ben Azzouz, Hadhami Ben Turkia, Salima Ferchichi, Neji Tebib, Taieb Massoud, Mohamed Ghorbel, Sandrine Laradi

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Somatic targeted mutation profiling of colorectal cancer precursor lesions door Wellington dos Santos, Mariana Bisarro dos Reis, Jun Porto, Ana Carolina de Carvalho, Marcus Matsushita, Gabriela Oliveira, Kari Syrjänen, Rui Manuel Reis, Denise Peixoto Guimarães

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NEMO Gene Mutations in Two Chinese Females with Incontinentia Pigmenti door Jiang J, Zeng J, He Q, Yang J, Wang S, Zhang Z

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The urine as a diagnostic key for a homozygous EGFR mutation door Mafalda Casinhas Santos, Margarida Almendra, Sofia Bota, Helena Ramos, Telma Francisco

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RUNX1 Germline Mutation in a Patient with Chronic Thrombocytopenia door Yujin Nam, Gyu Min Yeon, Seom Gim Kong

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Isolated Erythrocytosis Associated With 3 Novel Missense Mutations in the Gene door Joseph A. Moore MD, Maimon E. Hubbi MD, PhD, Chenliang Wang PhD, Yingfei Wang PhD, Weibo Luo PhD, Sandra Hofmann MD, PhD, Siayareh Rambally MD

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Important role of indels in somatic mutations of human cancer genes door Yang Haiwang, Zhong Yan, Peng Cheng, Chen Jian-Qun, Tian Dacheng

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Detection of Rare and Unknown Mutations in ß- tathalassemia Traits in Iran door M Habibi Roudknar, H Najmabadi, P Derakhshandeh, DD Farhud

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Prevalence of the MTHFR C677T Mutation in Fertile and Infertile Women door Adriana de Góes Soligo, Ricardo Barini, Joyce Maria Annichino-Bizzacchi

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