Search Results - "mutation"

Beta-thalassemia mutation types and the relationship with the demographic factors in Sanliurfa, Turkey by Ebru Tuncez, Özlem Öz, Burcu Akıncı, Fatma Demir

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Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation by Yaxian Deng, Juanyu Xu, Chunmei Yao, Lei Wang, Xiaohuan Dong, Chengsong Zhao

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Association of mutation and low expression of the CTCF gene with breast cancer progression by Md. Salman Akhtar, Naseem Akhter, Mohammad Zeeshan Najm, S.V.S Deo, N.K. Shukla, Shaia Saleh R. Almalki, Raed A. Alharbi, Abdulmajeed Abdulghani A. Sindi, Abdulmohsen Alruwetei, Abrar Ahmad, Syed Akhtar Husain

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Mutations of Desmoglein-2 in Sudden unexplained death in the chinese han population by Junyi Lin, Yulei Yang, Ziqin Zhao, Yiwen Shen, Kaijun Ma, Mingchang Zhang

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SCN1A Gene Mutations in Severe Infantile Myoclonic Epilepsy by J Gordon Millichap

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The I510V mutation in KLHL10 in a patient with oligoasthenoteratozoospermia by Zicong HUANG, Feilong CHEN, Minyu XIE, Hanbin ZHANG, Yuge ZHUANG, Chuyu HUANG, Xuemei LI, Hong LIU, Zhenguo CHEN

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Clinical and electroencephalogram characteristics of methylmalonic acidemia with MMACHC and MUT gene mutations by Yujun Yuan, Ying Ma, Qiong Wu, Liang Huo, Chun-Feng Liu, Xueyan Liu

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Ataxia and hypogonadotropic hypogonadism with intrafamilial variability caused by RNF216 mutation by Mohammed Alqwaifly, Saeed Bohlega

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Case reports: novel TUBG1 mutations with milder neurodevelopmental presentations by Yue T. K. Yuen, Ilaria Guella, Elke Roland, Michael Sargent, Cyrus Boelman

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MOS mutation causes female infertility with large polar body oocytes by Guangzhong Jiao, Huayu Lian, Jinhao Xing, Lili Chen, Zhaoli Du, Xiaoyan Liu

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Psychological support for carriers of mutations in genes associated with hereditary breast cancer by L. D. Firsova, V. V. Ogarev, Aydana Kanatbek kyzy, N. V. Romashkina, T. I. Yanova, A.  M. Danishevich, N. A. Bodunova

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A simple, fast and inexpensive method for mutation scanning of CFTR gene by Juan Emilio Figueredo Lago, Anny Armas Cayarga, Yaimé Josefina González González, Teresa Collazo Mesa

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Novel homozygous mutations in Pakistani families with Charcot-Marie-Tooth disease by Sumaira Kanwal, Yu JIn Choi, Si On Lim, Hee Ji Choi, Jin Hee Park, Rana Nuzhat, Aneela khan, Shazia Perveen, Byung-Ok Choi, Ki Wha Chung

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LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation by Ganigara Madhusudan, Prabhu Atul, Kumar Raghvannair

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A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets by Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin

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Role of proinflammatory mutations in peri-implantitis: systematic review and meta-analysis by Irene Lafuente-Ibáñez de Mendoza, Amaia Setien-Olarra, Ana María García-De la Fuente, José Manuel Aguirre-Urizar, Xabier Marichalar-Mendia

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Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas by Akbaroghli S, Balali M, Kamalidehghan B, Saber S, Aryani O, Yong Meng G, Houshmand M

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Explaining the unexplained: new genetic mutations in unexplained premature ovarian insufficiency by Anna K. Knight, Ph.D

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Keratin 17 mutations in four families from India with pachyonychia congenita by Manoj Agarwala, Pankaj Salphale, Dincy Peter, Neil J Wilson, Susanne Pulimood, Mary E Schwartz, Frances J D Smith

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High-throughput mutational analysis of <it>TOR1A </it>in primary dystonia by Truong Daniel D, Tarsy Daniel, Simon David K, Hedera Peter, Uitti Ryan J, Wszolek Zbigniew K, Batish Sat, Blitzer Andrew, Paniello Randal C, Karimi Morvarid, Tabbal Samer D, Racette Brad A, Perlmutter Joel S, Bastian Robert W, Xiao Jianfeng, Frei Karen P, Pfeiffer Ronald F, Gong Suzhen, Zhao Yu, LeDoux Mark S

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