Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A by Mujahed I. Mustafa, Naseem S. Murshed, Abdelrahman H. Abdelmoneim, Miyssa I. Abdelmageed, Nafisa M. Elfadol, Abdelrafie M. Makhawi

“…It is the second most frequent type of HSP which is characterized by progressive bilateral and mostly symmetric spasticity and weakness of the legs. SPG3A gene mutations and the phenotype-genotype correlations have not yet been recognized. …”
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Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the GBA Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia by Ekta Bhutada, Timothy Pyragius, Scott G. Petersen, Frans Niemann, Admire Matsika

“…DNA extracted from fetal tissue was submitted for analysis by next generation sequencing which revealed homozygosity for the RecNcil mutation in the GBA gene. Both parents were found to be heterozygous for the variant. …”
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Gallois Florence, Une approche régulationniste des mutations de la configuration institutionnelle française des services à la personne by Florence Gallois

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Promising Response with PI3K Inhibitor for a Patient with Heavily Pretreated PIK3CA Mutation Head-and-Neck Cancer by Ming-Jing Lee, Hsiang-Fong Kao

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Detection of mutations in plasma cell-free DNA of colorectal cancer patients and comparison with cancer panel data for tissue samples of the same cancers by Suji Min, Sun Shin, Yeun-Jun Chung

“…When we examined the KRAS mutations using the plasma cfDNA of the three CRC patients by dPCR, all three mutations were consistently identified. …”
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Case of phenotype of optic nerve atrophy due to mutation in С19orf12 gene (neurodegeneration with the brain iron accumulation (nbia)) by M.E. Ivanova, V.V. Kadyshev, D.S. Atarshchikov, I.V. Zolnikova, N.P. Akchurina, N.K. Serova, F.A. Konovalov, E.R. Lozier, E.A. Pomerantseva, N.V. Vetrova, D. Barh, L.M. Balashova, J.M. Salmasi

“…Case of phenotype of optic nerve atrophy due to mutation in С19orf12 gene (neurodegeneration with the brain iron accumulation (nbia)). …”
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EGFR-Mutated Lung Adenocarcinoma With Li–Fraumeni Syndrome: The Imperative for Germline Testing in Patients With a Family History, a Case Report by Hiroyuki Fujii, MD, Yusuke Okuma, MD, PhD, Makoto Hirata, MD, PhD, Yuki Shinno, MD, PhD, Tatsuya Yoshida, MD, PhD, Yasushi Goto, MD, PhD, Hidehito Horinouchi, MD, PhD, Noboru Yamamoto, MD, PhD, Yuichiro Ohe, MD, PhD

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Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency by Katja Dumic, Tony Yuen, Zorana Grubic, Vesna Kusec, Ingeborg Barisic, Maria I. New

“…Both patients are compound heterozygous for a novel p.E67fs (c.199delG) mutation in exon 1 and a p.R448H (c.1343G>A) mutation in exon 8. …”
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Regards sur le Mozambique contemporain by Fabrice Folio

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Current methods for detecting and assessing HIV-1 antibody resistance by Stanley Odidika, Stanley Odidika, Stanley Odidika, Martin Pirkl, Martin Pirkl, Thomas Lengauer, Thomas Lengauer, Thomas Lengauer, Philipp Schommers, Philipp Schommers, Philipp Schommers

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On a data model associated with antitrust behaviors by Weiguang Zhou, Guangxin Wang, Jixiao Lu, Hongxin Ruan, Jun Wang, Rui Zhang

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Genes and light: many years later by A. O. Ruvinsky

Subjects: “…mutation, gene kit…”
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Genomic Evidence for the Purging of Deleterious Genetic Variation in the Endangered North Atlantic Right Whale by Richard W. Orton, Philip K. Hamilton, Timothy R. Frasier

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Fine mapping and expression characteristics analysis of male-sterile gene BrRNR1 in Chinese cabbage (Brassica rapa L. ssp. pekinensis) by Meihui Xue, Jiahang Li, Ruiqi Liao, Junjie Xu, Mingwei Zhou, Runpeng Yao, Zhiyong Liu, Hui Feng, Shengnan Huang

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Revealing the biological features of the axolotl pancreas as a new research model by Hui Ma, Hui Ma, Hui Ma, Guangcong Peng, Yan Hu, Binbin Lu, Binbin Lu, Yiying Zheng, Yingxian Wu, Weimin Feng, Yu Shi, Xiangyu Pan, Li Song, Ina Stützer, Yanmei Liu, Jifeng Fei, Jifeng Fei, Jifeng Fei

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Case report: A co-existing case of ulcerative colitis and dysferlinopathy in a male patient by Limin Li, Qiong Yan, Mingming Deng, Muhan Lü, Tiejun Zhou, Xiaolin Zhong

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Analysis of Variation Characteristics of Precipitation Series from 1970 to 2019 in Qingyuan City by LIU Xuanxuan

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A SINGULAR INTERVAL RECONSTRUCTION LOCAL MEAN DECOMPOSITION AND ITS APPLICATION IN BEARING FAULT DIAGNOSIS OF RECIPROCATING COMPRESSOR (MT) by ZHAO HaiYang, LI Xue, LIU ZuJian, WANG JinDong, FENG Shuai

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STR profiling in a cohort of Saudi patients with acute leukemia by Husein A. Alhatim, PhD Student, Muhammad NH Abdullah, PhD, Suhaili A. Jamaludin, PhD, Armania B. Nurdin, PhD, Sayed A. Amer, PhD

Subjects: “…Genetic mutation…”
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Genomic insights into the dynamic antibiotic resistance landscape of Vibrio cholerae during the Cholera outbreak 2022 in Odisha, India by Debasish Samal, Jyotirmayee Turuk, Smruti Ranjan Nayak, Swatishree Pany, Bibhuti Bhusan Pal, Sanghamitra Pati

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