Zoekresultaten - "mutation"

A Chinese family affected by lynch syndrome caused by MLH1 mutation door Shuqin Jia, Meng Zhang, Yu Sun, Hai Yan, Fangping Zhao, Ziyu Li, Jiafu Ji

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Report of one case with de novo mutation in TLK2 and literature review door Han-Yue Li, Chun-Ming Jiang, Ruo-Yan Liu, Chao-Chun Zou

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Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome door Srivastava Satish, Sethuraman Gomathy, Sathyan Parthasarathy, Prasad Pullabatla, Markandaya Manjunath, Selvaraju Veeriah, Thakker Nalin, Kumar Arun

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Mutational profiling of micro-dissected pre-malignant lesions from archived specimens door Daniela Nachmanson, Joseph Steward, Huazhen Yao, Adam Officer, Eliza Jeong, Thomas J. O'Keefe, Farnaz Hasteh, Kristen Jepsen, Gillian L. Hirst, Laura J. Esserman, Alexander D. Borowsky, Olivier Harismendy

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Novel <it>APC </it>mutations in Czech and Slovak FAP families: clinical and genetic aspects door Vesela Kamila, Ilencikova Denisa, Kotlas Jaroslav, Zidkova Katerina, Kebrdlova Vera, Sulova Martina, Stekrova Jitka, Kohoutova Milada

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Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation door Rand Murshidi, Heba Al-lala

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PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis door Varun Aggarwal, Nancy Dobrolet, Steven Fishberger, Jenny Zablah, Parul Jayakar, Zineb Ammous

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A constellation of orthopaedic deformities in connection with cartilage oligomeric matrix protein mutation door Ali Al Kaissi, Maher Ben Ghachem, Vladimir Kenis, Eugene Melchenko, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher

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Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency door Osama Hamdoun, Asia Al Mulla, Shamma Al Zaabi, Hiba Shendi, Sharifa Al Ghamdi, Jozef Hertecant, Amar Al-Shibli

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Clinical Management and Gene Mutation Analysis of Children with Congenital Hyperinsulinism in South China door Aijing Xu, Jing Cheng, Huiying Sheng, Zhe Wen, Yunting Lin, Zhihong Zhou, Chunhua Zeng, Yongxian Shao, Cuiling Li, Li Liu, Xiuzhen Li

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Mutation Analysis of the Mitochondrial tRNA Genes in Iranian Coronary Atherosclerosis Patients door Mohammad Mehdi HEIDARI, Mahboobe DERAKHSHANI, Fatemeh SEDIGHI, Seyed Khalil FORUZAN-NIA

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Identification of key pathways and genes in PTEN mutation prostate cancer by bioinformatics analysis door Jian Sun, Shugen Li, Fei Wang, Caibin Fan, Jianqing Wang

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Population-based statistical inference for temporal sequence of somatic mutations in cancer genomes door Je-Keun Rhee, Tae-Min Kim

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Gestational complications of the prothrombin G20210A mutation related to prothrombin activity door M. G. Nikolaeva, N. N. Yasafova, A. P. Momot, M. S. Zainulina, K. A. Momot, I. A. Taranenko

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Comprehensive genomic characterization of breast tumors with BRCA1 and BRCA2 mutations door Avantika Lal, Daniele Ramazzotti, Ziming Weng, Keli Liu, James M. Ford, Arend Sidow

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Idiopathic infantile hypercalcemia with severe nephrocalcinosis, associated with mutations: a case report door Jeesun Yoo, Hee Gyung Kang, Yo Han Ahn

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Association of a bitter taste receptor mutation with Balkan Endemic Nephropathy (BEN) door Wooding Stephen P, Atanasova Srebrena, Gunn Howard C, Staneva Rada, Dimova Invanka, Toncheva Draga

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A review on non-syndromic tooth agenesis associated with PAX9 mutations door Nurul Hasyiqin Fauzi, Yunita Dewi Ardini, Zarina Zainuddin, Widya Lestari

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Molecular Investigation of Leber's Hereditary Optic Neuropathy Common Mutations in Suspected Patients door HR Soleimanpour, DD Farhud, SK Bidooki, L Andonian, M Togha, M Khanlari

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BRCA1 reversion mutation acquired after treatment identified by liquid biopsy door Paul Mayor, Laurie M. Gay, Shashikant Lele, Julia A. Elvin

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