Neonatal meconium aspiration syndrome associated with ABCA3 gene mutation and mycoplasma infection: a case report by Oliver Stelzig, Beatrix Mühlegger, Anna Zschocke, Ursula Kiechl-Kohlendorfer, Elke Griesmaier

Subjects: Get full text

A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments by Qing Li, Yichi Wu, Fucheng Meng, Zhuxi Li, Di Zhan, Xiaoping Luo

Subjects: Get full text

Co-isolation of human donor eye cells and development of oncogene-mutated melanocytes to study uveal melanoma by Yunxi Chen, Eva Jin, Mohamed Abdouh, Éric Bonneil, Daniel Alexander Jimenez Cruz, Thupten Tsering, Qianqian Zhou, Aurélie Fuentes-Rodriguez, Alexandra Bartolomucci, Alicia Goyeneche, Solange Landreville, Miguel N. Burnier, Julia V. Burnier

Subjects: Get full text

CaGe: A Web-Based Cancer Gene Annotation System for Cancer Genomics by Young-Kyu Park, Tae-Wook Kang, Su-Jin Baek, Kwon-Il Kim, Seon-Young Kim, Doheon Lee, Yong Sung Kim

Subjects: Get full text

D-loop mutations in mitochondrial DNA are a risk factor for chemotherapy resistance in esophageal cancer by Takashi Harino, Koji Tanaka, Daisuke Motooka, Yasunori Masuike, Tsuyoshi Takahashi, Kotaro Yamashita, Takuro Saito, Kazuyoshi Yamamoto, Tomoki Makino, Yukinori Kurokawa, Kiyokazu Nakajima, Hidetoshi Eguchi, Yuichiro Doki

Subjects: Get full text

A phase II trial of anlotinib plus EGFR-TKIs in advanced non-small cell lung cancer with gradual, oligo, or potential progression after EGFR-TKIs treatment (CTONG-1803/ALTER-L001) by Hua-Jun Chen, Hai-Yan Tu, Yanping Hu, Yun Fan, Guowu Wu, Shundong Cang, Yi Yang, Nong Yang, Rui Ma, Gaowa Jin, Ximing Xu, Anwen Liu, Shubin Tang, Ying Cheng, Yan Yu, Chong-Rui Xu, Qing Zhou, Yi-Long Wu

Subjects: “…EGFR mutation…”
Get full text

Treatment and Genotypic Characteristics of Patients with Rheumatoid Arthritis by Norbutoev Olimjon, Akhmedov Khalmurad, Abdurakhmanova Nargiza, Turaev Ikhtiyor

Subjects: Get full text

Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family by Y. N. Khan, M. Imad A.M. Mahmud, N. Othman, H. M. Radzuan, S. Basit

Subjects: Get full text

Robot welding trajectory optimization based on intersecting line welds by FAN Chenhui, LIU Huan, LIU Xuan, TANG Xiang

Subjects: Get full text

Impact of MSI-H/dMMR on clinicopathological characteristics and prognosis of patients with BRAF V600E-mutated resectable colorectal cancer by LI Jun, LU Tingwei, FANG Xuqian

Subjects: “…|colorectal cancer|braf v600e mutation|mismatch repair deficiency|microsatellite instability|prognosis…”
Get full text

Association between the rifampicin resistance mutations and rifabutin susceptibility in Mycobacterium tuberculosis: A meta-analysis by Wenli Wang, Hongjuan Zhou, Long Cai, Tingting Yang

Subjects: “…Rifampicin resistance mutation…”
Get full text

Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene by Biao Zhang, Xiao-li Huang, Xin-xin Lu, Heng-bin Huang, Yan-an Wu

Subjects: Get full text

MIRAGE syndrome: a case report of de novo SAMD9 c.884del p.(Pro295GlnfsTer104) variant and a novel phenotype of pyloric stenosis by Mohamad M. Assker, Mahdia Al Haidar, Marwan Faris, Ahmed Emara, Yousef Al Abrach, Maryam Al Shehhi

Subjects: Get full text

Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15 by Jianyan Pan, Hua Teng, Fang Liu, Siyi Chen, Yaning Liu, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu

Subjects: Get full text

Identification of the RHD novel allele c. 801+2T>G and study of its effect on RhD phenotype in vitro by JIA Shuangshuang, WEN Jizhi, WEI Ling, ZHANG Runqing, LUO Guangping, JI Yanli

Subjects: Get full text

TMBocelot: an omnibus statistical control model optimizing the TMB thresholds with systematic measurement errors by Xin Lai, Shaoliang Wang, Xuanping Zhang, Xiaoyan Zhu, Yuqian Liu, Zhili Chang, Zhili Chang, Xiaonan Wang, Xiaonan Wang, Yang Shao, Yang Shao, Jiayin Wang, Yixuan Wang

Subjects: “…tumor mutation burden…”
Get full text

Molecular mechanisms impact on fluoroquinolone resistance among E.coli from enteric carriage monitoring before prostate biopsy and earliest description of qnrB81 by Rehaiem Amel, Bouzouita Abderrazek, Ferjani Sana, Saadi Ahmed, Zrelli Mariem, Kanzari Lamia, Ferjani Asma, Mohamed Riadh Ben Slama, Boutiba Ben Boubaker Ilhem

Subjects: Get full text

Hybrid Harmony Search Algorithm Integrating Differential Evolution and Lévy Flight for Engineering Optimization by Feng Qin, Azlan Mohd Zain, Kai-Qing Zhou, Norfadzlan Bin Yusup, Didik Dwi Prasetya, Rozita Abdul Jalil, Zaheera Zainal Abidin, Mahadi Bahari, Yusri Kamin, Mazlina Abdul Majid

Subjects: Get full text

Early Onset Colorectal Cancer: Molecular Underpinnings Accelerating OccurrenceSummary by Atehkeng Zinkeng, F. Lloyd Taylor, Samuel H. Cheong, Heyu Song, Juanita L. Merchant

Subjects: Get full text

Resistance-Associated Substitutions (RAS) and Clinical Factors as Determinants of Sofosbuvir-Daclatasvir Treatment Outcomes in Chronic Hepatitis C Patients by Juferdy Kurniawan, Anugrah Dwi Handayu, Gita Aprilicia, Darlene Raudhatul Bahri, Irsan Hasan

Subjects: Get full text