Search Results - "Molecular Genetics"

Kv7-specific activators hyperpolarize resting membrane potential and modulate human iPSC-derived sensory neuron excitability by Mark Estacion, Mark Estacion, Shujun Liu, Shujun Liu, Xiaoyang Cheng, Xiaoyang Cheng, Sulayman Dib-Hajj, Sulayman Dib-Hajj, Stephen G. Waxman, Stephen G. Waxman

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Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report by Katarína Brennerová, Martina Škopková, Mária Ostrožlíková, Jana Šaligová, Juraj Staník, Vladimír Bzdúch, Daniela Gašperíková

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Peculiarities of expression of HIF-1Α and HIF-3Α in hypothalamus of Wistar rats under the influence of intermittent hypobaric hypoxia by A. V. Abramov, V. A. Shamenko

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Newborn weight is associated with the maternal F13A1 gene rs5985 polymorphism by O. V. Golovchenko, M. Yu. Abramova, I. V. Ponomarenko, M. I. Churnosov

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Improving the prediction of the immune status state dynamics in children with HIV infection by V. B. Denisenko, E. M. Simovanyan

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The Place and Prognostic Value of TERT Promoter Mutation in Molecular Classification in Grade II-III Glial Tumors and Primary Glioblastomas by Neslihan Kaya TERZI, Ismail YILMAZ, Aysim Buge OZ

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Isolation of dengue virus from the upper respiratory tract of four patients with dengue fever. by Nai-Ming Cheng, Cheng Len Sy, Bao-Chen Chen, Tsi-Shu Huang, Susan Shin-Jung Lee, Yao-Shen Chen

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Genetic diversity and spatial-temporal distribution of Yersinia pestis in Qinghai Plateau, China. by Xiaoqing Xu, Yujun Cui, Youquan Xin, Xiaoyan Yang, Qingwen Zhang, Yong Jin, Haihong Zhao, Jian He, Xing Jin, Cunxiang Li, Juan Jin, Xiang Li, Haisheng Wu, Zhizhen Qi

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Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients by Anna V. Degtyareva, Tatiana Y. Proshlyakova, Marina S. Gautier, Dmitry N. Degtyarev, Elena A. Kamenets, Galina V. Baydakova, Denis V. Rebrikov, Ekaterina Y. Zakharova

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Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study by Bhola Shama L, Creemers Johan, Go Attie, Hoffer Mariëtte VJ, Huijsdens Karin, Kooper Angelique JA, Macville Merryn VE, Nijhuis Jan G, van Oppen Carla AC, Oepkes Dick, Schuring-Blom Heleen G, Wildschut Hajo I, Birnie Erwin, Boormans Elisabeth MA, Bilardo Katia M, Suijkerbuijk Ron, Bouman Katelijne, Galjaard Robert-Jan H, Bonsel Gouke J, van Lith Jan MM

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Examination of Y-chromosomal microdeletions and partial microdeletions in idiopathic infertility in East Hungarian patients by Attila Mokánszki, Anikó Ujfalusi, Éva Gombos, István Balogh

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THANATOPHORIC DYSPLASIA: LITERATURE REVIEW AND CLINICAL CASE IN MONOCHORIC DIAMNIOTIC TWINS by І. Ластівка, А. Бабінцева, В. Анцупова, Л. Брішевац, О. Юрків, І. Малєєва

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The Effect of the Vitamin D Receptor on Bone Metabolism Disorders in Premature Infants Born Using In Vitro Fertilization by Natalia A. Druzhinina, Dinara R. Merzlyakova, Naila R. Hafizova, Valentina Yu. Gorbunova, Lilia R. Imaeva, Gulnaz A. Vahitova, Lilia R. Khalikova

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Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report by Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang, Shiguo Liu

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The features of transcriptional activity of K-RAS gene and expression of ErbB family receptors in intestinal-type gastric adenocarcinoma by V. A. Tumanskiy, T. A. Khrystenko

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Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis by Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal, Gönül Büyükyılmaz, Riza Taner Baran, Mehmet Nuri Özbek, Khalid Hussain

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Biodistribution and trafficking of hydrogel nanoparticles in adult mosquitoes. by Cynthia C H Paquette, Yashdeep Phanse, Jillian L Perry, Irma Sanchez-Vargas, Paul M Airs, Brendan M Dunphy, Jing Xu, Jonathan O Carlson, J Christopher Luft, Joseph M DeSimone, Lyric C Bartholomay, Barry J Beaty

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A <it>SRY</it>-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient by Batra Swaraj, Haque Shameemul, Khalil Hesham, Dhillon Varinderpal S, Shahid Mohammad, Husain Syed, Looijenga LHJ

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Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis by Nipaporn Deejai, Nunghathai Sawasdee, Choochai Nettuwakul, Wanchai Wanachiwanawin, Suchai Sritippayawan, Pa-thai Yenchitsomanus, Nanyawan Rungroj

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<i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case by Nikolay N. Murashkin, Roman V. Epishev, Olesya D. Dubenko, Alexander I. Materikin, Leonid A. Opryatin, Roman A. Ivanov, Alena A. Savelova, Maria A. Leonova

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