Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study by Klára Veres, Benedek Nagy, Zsófia Ember, Judit Bene, Kinga Hadzsiev, Márta Medvecz, László Szabó, Zsuzsanna Zsófia Szalai

Subjects: Get full text

Case report: a rare case of diffusely metastatic BRAF V600E-mutated colorectal cancer with concomitant infiltration of the skin and parotid gland by Aristeidis E. Boukouris, Ioannis Kokkinakis, Elias Drakos, Maria Sfakianaki, Maria Tzardi, Dimitrios Mavroudis, Dimitrios Mavroudis, John Souglakos, John Souglakos

Subjects: Get full text

Relation of JAK2 V617F allele burden and coronary calcium score in patients with essential thrombocythemia by Drofenik Ajda, Blinc Ales, Bozic Mijovski Mojca, Pajic Tadej, Vrtovec Matjaz, Sever Matjaz

Subjects: Get full text

Colorectal cancer in Lynch syndrome families: consequences of gene germline mutations and the gut microbiota by Xuexin Wang, Zhijun Zheng, Dongliang Yu, Xiaojue Qiu, Ting Yang, Ruoran Li, Jing Liu, Xin Wang, Peng Jin, Jianqiu Sheng, Nan Qin, Na Li, Junfeng Xu

Subjects: Get full text

Efficient multiplayer battle game optimizer for numerical optimization and adversarial robust neural architecture search by Rui Zhong, Yuefeng Xu, Chao Zhang, Jun Yu

Subjects: Get full text

Dynamic router and wavelength algorithm based on a VMC-genetic algorithm and dynamic network load balance in optical network by LI Wei 1, HUANG De-xiu 2, LIU De-ming 1, HE Jun1

Subjects: Get full text

Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant by Vagta Ram, Kunal Kumar, Krishnan Rajeshwari, Deepak Kumar

Subjects: Get full text

Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks by Laura Miguel Berenguel, Carla Gianelli, Carla Gianelli, Carla Gianelli, Elisabet Matas Pérez, Teresa del Rosal, Ana Méndez Echevarría, Ángel Robles Marhuenda, Marta Feito Rodríguez, Maria Teresa Caballero Molina, Maria Teresa Caballero Molina, Lorena Magallares García, Brenda Sánchez Garrido, Samantha Hita Díaz, Luis Allende Martínez, Luis Allende Martínez, Pilar Nozal Aranda, Pilar Nozal Aranda, Pilar Nozal Aranda, Carmen Cámara Hijón, Carmen Cámara Hijón, Carmen Cámara Hijón, Eduardo López Granados, Eduardo López Granados, Eduardo López Granados, Rebeca Rodríguez Pena, Rebeca Rodríguez Pena, Rebeca Rodríguez Pena, María Bravo García-Morato, María Bravo García-Morato, María Bravo García-Morato

Subjects: “…splicing mutations…”
Get full text

First Detection and Genomic Characterization of Linezolid-Resistant <i>Enterococcus faecalis</i> Clinical Isolates in Bulgaria by Tanya V. Strateva, Preslava Hristova, Temenuga J. Stoeva, Hristina Hitkova, Slavil Peykov

Subjects: Get full text

Bayesian Analysis of Complex Mutations in HBV, HCV, and HIV Studies by Bing Liu, Shishi Feng, Xuan Guo, Jing Zhang

Subjects: Get full text

A Cross-sectional Survey of Physicians to Understand Biomarker Testing and Treatment Patterns in Patients with Prostate Cancer in the USA, EU5, Japan, and China by Christian Gratzke, Himani Aggarwal, Jeri Kim, Holly Chaignaud, Sabine Oskar

Subjects: “…Homologous recombination repair mutation…”
Get full text

Corrigendum: Set of 15 SNP-SNP markers for detection of unbalanced degraded DNA mixtures and noninvasive prenatal paternity testing by Ranran Zhang, Yu Tan, Li Wang, Hui Jian, Jing Zhu, Yuanyuan Xiao, Mengyu Tan, Jiaming Xue, Fan Yang, Fan Yang, Weibo Liang

Subjects: “…amplification-refractory mutation system PCR…”
Get full text

Regard critique sur le relativisme éthique à une époque des mutations profondes by François TSHIONYI KAZADI

Subjects: Get full text

Set of 15 SNP-SNP Markers for Detection of Unbalanced Degraded DNA Mixtures and Noninvasive Prenatal Paternity Testing by Ranran Zhang, Yu Tan, Li Wang, Hui Jian, Jing Zhu, Yuanyuan Xiao, Mengyu Tan, Jiaming Xue, Fan Yang, Fan Yang, Weibo Liang

Subjects: “…amplification-refractory mutation system PCR…”
Get full text

Enhanced grey wolf optimization for maximum power point tracking in photovoltaic systems with hybrid battery-supercapacitor storage by Chirine Benzazah, Najoua Mrabet, Ahmed ElAkkary, Fathallah Rerhrhaye

Subjects: Get full text

Predictive Clinical-Biological Markers Over the First 3 Years of Nusinersen Treatment in SMA Type 1 Patients by Mihaela Badina, Andrada Mirea, Corina Sporea, Gabriel Cristian Bejan

Subjects: Get full text

Impact of landscape patterns on river water quality: Spatial-scale effects across an agricultural-urban interface by Kun Mei, Haonan Shi, Yupeng Wu, Randy A. Dahlgren, Xiaoliang Ji, Minmin Yang, Yueru Guan

Subjects: Get full text

The AβA2V paradigm: From molecular insights to therapeutic strategies in Alzheimer’s disease and primary tauopathies by Luisa Diomede, Andrea Conz, Michele Mosconi, Tatiana Stoilova, Matteo Paloni, Matteo Salvalaglio, Alfredo Cagnotto, Laura Colombo, Marcella Catania, Giuseppe Di Fede, Fabrizio Tagliavini, Mario Salmona

Subjects: Get full text

L’animation socioculturelle française en 2030, au filtre du sablier du temps qui passe… by Luc Greffier

Subjects: Get full text

OAT BREEDING IN THE KUBAN REGION by T. E. Kuznetsova, S. A. Levshtanov, N. V. Serkin

Subjects: Get full text