Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients by Doudou Chen, Tao Yang, Siquan Zhu

“…Panel-based exome sequencing was performed with the Illumina HiSeq X-Ten platform, and then the identified variants were confirmed with Sanger sequencing and evaluated according to the American College of Medical Genetics and Genomics (ACMG) criteria. Results. Three likely pathogenic variants were found. …”
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The PIC Cystogram: Its Place in the Treatment Algorithm of Recurrent Febrile UTIs by Jennifer A. Hagerty, Max Maizels, Earl Y. Cheng

“…In patients with febrile UTIs and negative VCUGs, the PIC cystogram has been demonstrated to identify occult reflux (PIC-VUR). …”
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Diagnosis and Management of Atypical Chronic Myeloid Leukemia with a t(2;13)(q33;q12) Translocation by John S. Wang, Omar Elghawy, Brett R. Kurpiel, Michael G. Douvas

“…Atypical chronic myeloid leukemia (aCML) is a rare myeloproliferative disorder that shares clinical features with chronic myeloid leukemia but lacks the classic t(9;22) BCR-ABL1 translocation and features prominent dysgranulopoiesis and granulocytic dysplasia. …”
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Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome by Rama Krishna Sanjeev, Seema Kapoor, Manisha Goyal, Rajiv Kapur, Joseph Gerard Gleeson

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Soluble Markers of Antibody Secreting Cell Function as Predictors of Infection Risk in Rheumatoid Arthritis by Maria J. Gutierrez, Stephen V. Desiderio, Nae-Yuh Wang, Erika Darrah, Laura Cappelli, Gustavo Nino, Michelle Jones, Clifton O. Bingham

“…We identified that (1) serum levels of soluble BCMA, APRIL, CD40, and CD40L were significantly decreased in RA patients relative to healthy individuals; (2) serum soluble BCMA, predominantly released by ASC, correlated with serum concentrations of class-switched immunoglobulins, IgG and IgA; and (3) RA patients with a history of infections had significantly lower soluble BCMA levels compared with healthy donors and with RA patients without infections. …”
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Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome by Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi

“…All variants were interpreted as pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines and confirmed through Sanger sequencing. …”
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Custom exome panel revealed new mutations in MAPK14 and novel mutation in RUNX2 gene in patients with PCOS by Yunus Arikan, Taylan Onat

“…We compared the minor allele frequency (MAF) values of different variants with our results and calculated deleterious scores of newly found variants using various web-based prediction tools and ACMG pathogenicity criteria. We found a novel missense mutation (p.Thr355Ile) in the RUNX2 gene in one patient and heterozygous mutations in the MAPK14 gene (c.306_5delT and c.*8G > T) in another patient with PCOS. …”
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Design and Implementation of 3U CubeSat Platform Architecture by Sua Song, Hongrae Kim, Young-Keun Chang

“…The performance of KAUSAT-5 adopting standard platform was verified by mounting the VSCMG (Variable Speed Control Moment Gyro), which is one payload for technical demonstration, at the bottom of the platform and the infrared (IR) camera, which is the other payload for science mission, on the top. …”
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2019–2020 Florida Citrus Production Guide: Canopy Management by Tripti Vashisth, Mongi Zekri, Fernando M. Alferez

“…Alferez. and published by the Horticultural Sciences Department, March 2019. CMG16/HS1303: 2022–2023 Florida Citrus Production Guide: Canopy Management (ufl.edu) …”
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2019–2020 Florida Citrus Production Guide: Canopy Management by Tripti Vashisth, Mongi Zekri, Fernando M. Alferez

“…Alferez. and published by the Horticultural Sciences Department, March 2019. CMG16/HS1303: 2022–2023 Florida Citrus Production Guide: Canopy Management (ufl.edu) …”
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An Analytical Multimodulus Algorithm for Blind Demodulation in a Time-Varying MIMO Channel Context by Steredenn Daumont, Daniel Le Guennec

“…These algorithms, named adaptive-AMMA and adaptive-ASCMA, respectively, are compared with the adaptive (Analytical Constant Modulus Algorithm) ACMA and the MMA (Multi-Modulus Algorithm). The adaptive-AMMA and adaptive-ASCMA achieve a lower residual intersymbol interference and bit error rate than those of the adaptive-ACMA and MMA.…”
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CHIMERIC ANTIGEN RECEPTOR T CELLS FOR THE TREATMENT OF MULTIPLE MYELOMA by Ugo Testa, Elvira Pelosi, Germana Castelli

“…Anti-B-cell maturation antigen (BCMA) CAR-T cells have revolutionized the treatment of MM patients with relapsed/refractory disease and their clinical use was approved for the treatment of these patients. …”
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Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families by Pengcheng Xu, Jun Xu, Hu Peng, Tao Yang

“…The two novel mutations identified in this study, p.M413T in TMC1 and p.R1407T in MYO15A, are classified as likely pathogenic according to the guidelines of ACMG. Our study expanded the mutation spectrums of TMC1 and MYO15A and illustrated that genotype-phenotype correlation in combination with next-generation sequencing may improve the accuracy for genetic diagnosis of deafness.…”
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2019–2020 Florida Citrus Production Guide: Root Health Management by Evan G. Johnson, James H. Graham, Kelly T. Morgan

Subjects: “…CG094…”
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2019–2020 Florida Citrus Production Guide: Root Health Management by Evan G. Johnson, James H. Graham, Kelly T. Morgan

Subjects: “…CG094…”
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Maroteaux-Lamy综合征的ARSB基因分析及新突变的致病性鉴定 by 郭东炜, 潘伟绵, 杜敏联, 郭奕斌

“…2）新突变鉴定结果：对正常ARSB酶蛋白和p.S94L突变酶蛋白的空间构 象的预测比对结果显示，两者有明显区别；跨物种保守性分析结果显示， p.94突变点所在氨基酸（S）在物种进化 过程中具有高度保守性；PROVEAN、SIFT和PolyPhen-2软件对p.S94L预测结果分别为：Deleterious、Damaging和 Probablydamaging。用上述方法对p.S460F的预测结果及ACMG的综合分析结果也显示该突变可能是致病性 的。【结论】1）家系4的p.S94L和家系6的p.S460F新突变可能都是新的致病性突变，有可能都是引起患儿发病 的内在原因之一。…”
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Genetic Variations in the Human Angiotensin-ConvertingEnzyme 2 and Susceptibility to Coronavirus Disease-19 by Taravat Talebi, Tannaz Masoumi, Katayoun Heshmatzad, Mahshid Hesami, Majid Maleki, Samira Kalayinia

“…We evaluated the identified variants based on the predictive performance of 5 deleteriousness-scoring methods and the 2015 American College of Medical Genetics and Genomics (ACMG) guidelines. The results indicated 299 variants within the ACE2 gene. …”
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Case Report: A 3’ splice site variation in RORB exon 3 associated with idiopathic generalized epilepsy in a child by Dandan Shi, Nannan Li, Caifang Fan, Qiang Luo

“…This c.94-1G>A variant disrupts normal mRNA splicing, leading to the premature termination of the RORB protein. According to ACMG guidelines, this variant is classified as “likely pathogenic”. …”
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Complexity Analysis of New Future Video Coding (FVC) Standard Technology by Soulef Bouaafia, Randa Khemiri, Seifeddine Messaoud, Fatma Elzahra Sayadi

“…FVC was developed by the Joint Video Exploration Team (JVET), formed through collaboration between the ISO/IEC MPEG and ITU-T VCEG. New tools emerging with the FVC bring in super resolution implementation schemes that are being recommended for Ultra-High-Definition (UHD) video coding in both SDR and HDR images. …”
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PSI Methodologies for Nuclear Data Uncertainty Propagation with CASMO-5M and MCNPX: Results for OECD/NEA UAM Benchmark Phase I by W. Wieselquist, T. Zhu, A. Vasiliev, H. Ferroukhi

“…Using standard uncertainty propagation, the sensitivity coefficients are folded with variance/covariance matrices (VCMs) leading to a local first-order UQ method. The complementary SS technique samples uncertain inputs according to their joint probability distributions and provides a global, all-order UQ method. …”
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