Arama Sonuçları - "homozygous"

Familial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype - The Putative Role of MC1R Polymorphism as Modifier Yazar: Franciele Antonieta Bianchi Leidenz, Flavia Vasques Bittencourt, Williana Garcia Braga, Ellio Magno de Sá Araujo, Carolina Cavalieri Gomes, Vanessa de Fatima Bernardes, Eitan Friedman, Luiz De Marco

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A common polymorphism near the interleukin-6 gene modifies the association between dietary fat intake and insulin sensitivity Yazar: Cuda C, Garcia-Bailo B, Karmali M, El-Sohemy A, Badawi A

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Functional assays to determine the significance of two common <it>XPC </it>3'UTR variants found in bladder cancer patients Yazar: Bishop D, Hall Janet, Bentley Johanne, Vaslin Laurence, Elliott Faye, Scott Gina B, Qiao Boling, Knowles Margaret A, Kiltie Anne E

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Frequência genotípica em amostras de MTHFR para o polimorfismo C677T em pacientes da cidade de Curitiba-PR Genotype frequency in MTHFR samples to C677T polimorphism in patients f... Yazar: Marcos Edgar Herkenhoff, Rodrigo Guilherme Backes, Rodrigo Gaulke, Vanessa Rosália Remualdo

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Manifestation of rs1888747 polymorphisms in the FRMD3 gene in diabetic kidney disease and diabetic retinopathy in type 2 diabetes patients Yazar: Chatchai Kreepala, Pitirat Panpruang, Rapeeporn Yodprom, Teeraya Piyajarawong, Krittanont Wattanavaekin, Taechasit Danjittrong, Sadiporn Phuthomdee

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Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C Yazar: Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R. Webster, Rob W.J. Collin, Michael E. Cheetham, Gerard Platenburg, Jim Swildens

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C3 Glomerulonephritis associated with Anti-complement Factor H Autoantibodies in an Adolescent Male: A Case Report Yazar: HyeSun Hyun, Hee Gyung Kang, UiJu Cho, Il-Soo Ha, Hae Il Cheong

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Association of tumor necrosis factor-alpha 308G/A polymorphism with recurrent miscarriages in women Yazar: Neha Sudhir, Badaruddoza, Archana Beri, Anupam Kaur

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Zebrafish model of tuberous sclerosis complex reveals cell-autonomous and non-cell-autonomous functions of mutant tuberin Yazar: Seok-Hyung Kim, Christina K. Speirs, Lilianna Solnica-Krezel, Kevin C. Ess

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Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children Yazar: Shokouh azam SARRAFZADEH, Maryam MAHLOOJIRAD, Maryam NOURIZADEH, Jean-Laurent CASANOVA, Zahra POURPAK, Jacinta BUSTAMANTE, Mostafa MOIN

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Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome Yazar: Pengjiang Kang, Weihua Zhang, Jinquan Wen, Jiming Zhang, Fei Li, Wuxia Sun

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UGT1A1 gene polymorphisms and jaundice in Indonesian neonates Yazar: Rinawati Rohsiswatmo, Radhian Amandito, Andiani Wanda Putri, Nilam Sartika, Amarila Malik

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Role of GDNF, GFRα1 and GFAP in a Bifidobacterium-Intervention Induced Mouse Model of Intestinal Neuronal Dysplasia Yazar: Wei Liu, Tingting Zhou, Jinqiu Tian, Xiaofang Yu, Chuantao Ren, Chuantao Ren, Zengcai Cao, Peimin Hou, Qiangye Zhang, Aiwu Li

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Impact of 719Trp>Arg Polymorphism of KIF 6 Gene on Contrast Induced Nephropathy in Patients Undergoing Coronary Angiography or Percutaneous Coronary Intervention Yazar: Lucia Barbieri, Monica Verdoia, Harry Suryapranata, Stefano Carugo, Giuseppe De Luca

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Association of NOTCH4 Gene Polymorphism with the Susceptibility to Psoriasis Vulgaris in Pakistan Yazar: Waqas Ahmad, Sara Sadiq, Ambreen Barkat, Muhammad Fazal Hussain Qureshi

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Genetic risk-factors for anxiety in healthy individuals: polymorphisms in genes important for the HPA axis Yazar: Heléne Lindholm, India Morrison, Alexandra Krettek, Dan Malm, Giovanni Novembre, Linda Handlin

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Long non-coding RNA HOTAIR polymorphism and susceptibility to cancer: an updated meta-analysis Yazar: Juan Li, Zhigang Cui, Hang Li, Xiaoting Lv, Min Gao, Zitai Yang, Yanhong Bi, Baosen Zhou, Zhihua Yin

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Regional Prevalence of Hemoglobin C Across Saudi Arabia: An Epidemiological Survey Yazar: Mansour Aljabry, Suha Sulimani, Ghazi Alotaibi, Hassan Aljabri, Shaker Alomary, Izzeldin Adam, Omar Aljabri, Mansour Khater Alzahrani, Abdulrahman Alsultan

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the Prevalence of UGT1A1*93 and ABCC5 Polymorphisms in Cancer Patients Receiving Irinotecan-Based Chemotherapy at Al-Najaf Al-Ashraf Yazar: ahmed F. al_talkani, Sarmed H. Kathem

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Phenotypic and Genetic Characterization of a Cohort of Pediatric Wilson Disease Patients Yazar: Elnaghy Suzan, Elsayed Solaf M, Abdel Ghaffar Tawhida Y, Shadeed Ahmed, Elsobky Ezzat S, Schmidt Hartmut

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