Search Results - "mutation"

Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing by Anett Illés, Henriett Pikó, Kristóf Árvai, Veronika Donka, Olívia Szepesi, János Kósa, Péter Lakatos, Artúr Beke

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Novel Compound Heterozygous Variants in CCDC40 Associated with Primary Ciliary Dyskinesia and Multiple Morphological Abnormalities of the Sperm Flagella by Xu Y, Yang B, Lei C, Yang D, Ding S, Lu C, Wang L, Guo T, Wang R, Luo H

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Comprehensive Analysis of SLC35A2 in Pan-Cancer and Validation of Its Role in Breast Cancer by Sun X, Yuan Z, Zhang L, Ren M, Yang J, Xu Y, Hao J

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Tumor germinal mixto con componentes de disgerminoma y coriocarcinoma de ovario en mujer adolescente con ataxiatelangiectasia by Eduardo Augusto Gálvez-Cuitiva, Cecilia Ridaura-Sanz, Marco Antonio Yamazaki-Nakashimada, Carlos Leal-Leal, Marta Zapata-Tarrés

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Assessment of <i>MC1R</i> and <i>&#945;</i><i>-MSH</i> gene sequences in Iranian vitiligo patients by Eskandani M, Hasannia S, Vandghanooni S, Pirooznia N, Golchai J

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The Cannabinoid-Like Compound, VSN16R, Acts on Large Conductance, Ca²⁺-Activated K⁺ Channels to Modulate Hippocampal CA1 Pyramidal Neuron Firing by Setareh Tabatabaee, David Baker, David L. Selwood, Benjamin J. Whalley, Gary J. Stephens

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Fatores de risco ambientais para o câncer gástrico: a visão do toxicologista Environmental risk factors for gastric cancer: the toxicologist's standpoint by Maria Regina Gomes-Carneiro, Luís Felipe Ribeiro-Pinto, Francisco José Roma Paumgartten

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Adjuvant Therapy in Acral Melanoma: A Systematic Review by Zhu Z, Liu M, Zhang H, Zheng H, Li J

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Targeted agents plus CHOP compared with CHOP as the first-line treatment for newly diagnosed patients with peripheral T-cell lymphoma (GUIDANCE-03): an open-label, multicentre phas... by Ming-Ci Cai, Shu Cheng, Hong-Mei Jing, Yan Liu, Guo-Hui Cui, Ting Niu, Jian-Zhen Shen, Liang Huang, Xin Wang, Yao-Hui Huang, Li Wang, Peng-Peng Xu, Wei-Li Zhao

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Pharmacological Assessment of the Antiprotozoal Activity, Cytotoxicity and Genotoxicity of Medicinal Plants Used in the Treatment of Malaria in the Greater Mpigi Region in Uganda by Fabien Schultz, Fabien Schultz, Ogechi Favour Osuji, Anh Nguyen, Godwin Anywar, John R. Scheel, John R. Scheel, Guy Caljon, Luc Pieters, Leif-Alexander Garbe, Leif-Alexander Garbe

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Breakthrough cases of Omicron and Delta variants of SARS-CoV-2 during the fifth wave in Pakistan by Zunera Jamal, Murtaza Haider, Aamer Ikram, Muhammad Salman, Muhammad Suleman Rana, Zaira Rehman, Syed Adnan Haider, Muhammad Ammar, Nadia Nisar, Massab Umair

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WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome by Hui Dong Lim, So Min Lee, Ye Jin Yun, Dae Hee Lee, Jun Ho Lee, Seung-Ha Oh, Sang-Yeon Lee

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In Vitro and In Vivo Antiviral Studies of New Heteroannulated 1,2,3-Triazole Glycosides Targeting the Neuraminidase of Influenza A Viruses by Omnia Kutkat, Ahmed Kandeil, Yassmin Moatasim, Yaseen A. M. M. Elshaier, Wael A. El-Sayed, Samir T. Gaballah, Ahmed El Taweel, Mina Nabil Kamel, Mohamed El Sayes, Mohammed A. Ramadan, Rabeh El-Shesheny, Farouk M. E. Abdel-Megeid, Richard Webby, Ghazi Kayali, Mohamed A. Ali

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Long‐term human IgG treatment improves heart and muscle function in a mouse model of Duchenne muscular dystrophy by Jana Zschüntzsch, Pia Vanessa Jouvenal, Yaxin Zhang, Florian Klinker, Malte Tiburcy, David Liebetanz, Dörthe Malzahn, Heinrich Brinkmeier, Jens Schmidt

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Knockout of TSC2 in Nav1.8+ neurons predisposes to the onset of normal weight obesity by Jennifer M. Brazill, David Shin, Kristann Magee, Anurag Majumdar, Ivana R. Shen, Valeria Cavalli, Erica L. Scheller

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Transcription start site‐level expression of thyroid transcription factor 1 isoforms in lung adenocarcinoma and its clinicopathological significance by Kei Sano, Takuo Hayashi, Yoshiyuki Suehara, Masaki Hosoya, Kazuya Takamochi, Shinji Kohsaka, Satsuki Kishikawa, Monami Kishi, Satomi Saito, Fumiyuki Takahashi, Kazuo Kaneko, Kenji Suzuki, Takashi Yao, Muneaki Ishijima, Tsuyoshi Saito

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A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report by Anna Zlotina, Olesia Melnik, Yulia Fomicheva, Rostislav Skitchenko, Alexey Sergushichev, Elena Shagimardanova, Oleg Gusev, Guzel Gazizova, Tatiana Loevets, Tatiana Vershinina, Ivan Kozyrev, Mikhail Gordeev, Elena Vasichkina, Tatiana Pervunina, Anna Kostareva

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Genetic variation of <it>NEDD4L </it>is associated with essential hypertension in female Kazakh general population: a case-control study by Luo Wenli, Guo Yanying, Hong Jing, Zhou Ling, Yang Jin, Wang Hongmei, Li Nanfang, Chang Jianhang

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Economic evaluation of first-line and maintenance treatments for advanced non-small cell lung cancer: a systematic review by Chouaïd C, Crequit P, Borget I, Vergnenegre A

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ANALISIS KANDUNGAN FENOLFTALEIN PADA JAMU PELANGSING by Rina Anugrah, Mira Andam Dewi, Agung Subekti

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