Search Results - "next generation sequencing"

Performance of whole-genome promoter nucleosome profiling of maternal plasma cell-free DNA for prenatal noninvasive prediction of fetal macrosomia: a retrospective nested case-cont... by Qianwen Lu, Zhiwei Guo, Jun Zhang, Ke Wang, Qi Tian, Siping Liu, Kun Li, Cailing Xu, Caimin Li, Zenglu Lv, Zhigang Zhang, Xuexi Yang, Fang Yang

Connect to this object online.

Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report by Kristy Iskandar, Sunartini, Farida Niken Astari, Rizki Amalia Gumilang, Nissya Ilma, Ni Putu Shartyanie, Guritno Adistyawan, Grace Tan, Gunadi, Poh San Lai

Connect to this object online.

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report by Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai

Connect to this object online.

Co-mutations of TP53 and KRAS serve as potential biomarkers for immune checkpoint blockade in squamous-cell non-small cell lung cancer: a case report by Cheng Fang, Chu Zhang, Wei-Qing Zhao, Wen-Wei Hu, Jun Wu, Mei Ji

Connect to this object online.

Echocardiographic Findings and Genotypes in Autosomal Dominant Polycystic Kidney Disease by Ryohei Miyamoto, Akinari Sekine, Takuya Fujimaru, Tatsuya Suwabe, Hiroki Mizuno, Eiko Hasegawa, Masayuki Yamanouchi, Motoko Chiga, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Naoki Sawa, Yoshifumi Ubara, Junichi Hoshino

Connect to this object online.

Copy number variations of chromosome 17p11.2 region in children with development delay and in fetuses with abnormal imaging findings by Yuanyuan Zhang, Xiaoliang Liu, Haiming Gao, Rong He, Guoming Chu, Yanyan Zhao

Connect to this object online.

Use of Dried Blood Spots to Elucidate Full-Length Transmitted/Founder HIV-1 Genomes by Jesus F. Salazar-Gonzalez, Maria G. Salazar, Damien C. Tully, Colin B. Ogilvie, Gerald H. Learn, Todd M. Allen, Sonya L. Heath, Paul Goepfert, Katharine J. Bar

Connect to this object online.

Primary erythromelalgia caused by SCN9A gene mutation: A case report and literature review by Cuicui SUN, Sai YANG, Hang ZHENG, Yunsheng LIANG, Zhimiao LIN, Yongfeng CHEN

Connect to this object online.

Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease by Haifa Mansour, Haifa Mansour, Babajan Banaganapalli, Babajan Banaganapalli, Khalidah Khalid Nasser, Khalidah Khalid Nasser, Khalidah Khalid Nasser, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Noor Ahmad Shaik, Noor Ahmad Shaik, Omar Ibrahim Saadah, Omar Ibrahim Saadah, Ramu Elango, Ramu Elango

Connect to this object online.

Colistin and Carbapenem-Resistant <i>Acinetobacter baumannii</i> Aci46 in Thailand: Genome Analysis and Antibiotic Resistance Profiling by Nalumon Thadtapong, Soraya Chaturongakul, Sunhapas Soodvilai, Padungsri Dubbs

Connect to this object online.

Mobilising Collaboration among Stakeholders to Optimise the Growing Potential of Data for Tackling Cancer by Denis Horgan, Marc Van den Bulcke, Umberto Malapelle, Nicola Normanno, Ettore D. Capoluongo, Arsela Prelaj, Carmelo Rizzari, Aliki Stathopoulou, Jaya Singh, Marta Kozaric, France Dube, Manuel Ottaviano, Stefania Boccia, Gabriella Pravettoni, Ivana Cattaneo, Núria Malats, Reinhard Buettner, Karim Lekadir, Francesco de Lorenzo, Catherine Alix-Panabieres, Sara Badreh, Paul Hofman, Ruggero De Maria, Eric Solary

Connect to this object online.

Genetic Characterization of Carbapenem-Resistant <i>Klebsiella pneumoniae</i> Clinical Isolates in a Tertiary Hospital in Greece, 2018-2022 by Charalampos Zarras, Theodoros Karampatakis, Styliani Pappa, Elias Iosifidis, Eleni Vagdatli, Emmanuel Roilides, Anna Papa

Connect to this object online.

Functional identification of the terpene synthase family involved in diterpenoid alkaloids biosynthesis in Aconitum carmichaelii by Liuying Mao, Baolong Jin, Lingli Chen, Mei Tian, Rui Ma, Biwei Yin, Haiyan Zhang, Juan Guo, Jinfu Tang, Tong Chen, Changjiangsheng Lai, Guanghong Cui, Luqi Huang

Connect to this object online.

Effect of praziquantel on the differential expression of mouse hepatic genes and parasite ATP binding cassette transporter gene family members during Schistosoma mansoni infection. by Melissa C Sanchez, Katina V Krasnec, Amalia S Parra, Christian von Cabanlong, Geoffrey N Gobert, Boris Umylny, Pauline M Cupit, Charles Cunningham

Connect to this object online.

Unraveling the pathogenic mechanism of a novel filamin a frameshift variant in periventricular nodular heterotopia by Chunran Xue, Yishu Wang, Jing Peng, Sisi Feng, Yangtai Guan, Yong Hao

Connect to this object online.

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias by Jacqueline S. Dron, Jian Wang, Adam D. McIntyre, Michael A. Iacocca, John F. Robinson, Matthew R. Ban, Henian Cao, Robert A. Hegele

Connect to this object online.

Primary Signet Ring Cell/Histiocytoid Carcinoma of the Eyelid: Clinicopathologic Analysis with Evaluation of the E-Cadherin/β-Catenin Complex and Associated Genetic Alterations by Maria Del Valle Estopinal, Lavinia P. Middleton, Bita Esmaeli, Keyur P. Patel, Sara Nowroozizadeh, Michelle D. Williams

Connect to this object online.

An investigation of conventional microbial culture for the Naja atra bite wound, and the comparison between culture-based 16S Sanger sequencing and 16S metagenomics of the snake or... by Yan-Chiao Mao, Han-Ni Chuang, Chien-Hung Shih, Han-Hsueh Hsieh, Yu-Han Jiang, Liao-Chun Chiang, Wen-Loung Lin, Tzu-Hung Hsiao, Po-Yu Liu

Connect to this object online.

What is new in genetics and osteogenesis imperfecta classification? by Eugênia R. Valadares, Túlio B. Carneiro, Paula M. Santos, Ana Cristina Oliveira, Bernhard Zabel

Connect to this object online.

SCHOOL: Software for Clinical Health in Oncology for Omics Laboratories by Chelsea K. Raulerson, Erika C. Villa, Jeremy A. Mathews, Benjamin Wakeland, Yan Xu, Jeffrey Gagan, Brandi L. Cantarel

Connect to this object online.