Search Results - "next generation sequencing"

miRNome profiling of LSC-enriched CD34+CD38−CD26+ fraction in Ph+ CML-CP samples from Argentinean patients: a potential new pharmacogenomic tool by María Sol Ruiz, María Belén Sánchez, Simone Bonecker, Carolina Furtado, Daniel Koile, Patricio Yankilevich, Santiago Cranco, María del Rosario Custidiano, Josefina Freitas, Beatriz Moiraghi, Mariel Ana Pérez, Carolina Pavlovsky, Ana Inés Varela, Verónica Ventriglia, Julio César Sánchez Ávalos, Irene Larripa, Ilana Zalcberg, José Mordoh, José Mordoh, José Mordoh, Peter Valent, Peter Valent, Michele Bianchini

Connect to this object online.

A nonsense variant in FBN1 caused autosomal dominant Marfan syndrome in a Chinese family: a case report by Yuping Niu, Sexin Huang, Zeyu Wang, Peiwen Xu, Lijuan Wang, Jie Li, Ming Gao, Xuan Gao, Yuan Gao

Connect to this object online.

A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report by Guilian Sun, Fang Yao, Zhuoling Tian, Tianjiao Ma, Zhiliang Yang

Connect to this object online.

Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy by Meng Dong, Tianyu Zhang, Ruimei Hu, Meng Li, Guan Wang, Xinjie Liu

Connect to this object online.

Meta-Qtest: meta-analysis of quadratic test for rare variants by Jieun Ka, Jaehoon Lee, Yongkang Kim, Bermseok Oh, T2D-GENES Consortium, Taesung Park

Connect to this object online.

Regulation of hepatic microRNAs in response to early stage Echinococcus multilocularis egg infection in C57BL/6 mice. by Ghalia Boubaker, Sebastian Strempel, Andrew Hemphill, Norbert Müller, Junhua Wang, Bruno Gottstein, Markus Spiliotis

Connect to this object online.

The Delta variant wave in Tunisia: Genetic diversity, spatio-temporal distribution and evidence of the spread of a divergent AY.122 sub-lineage by Sondes Haddad-Boubaker, Sondes Haddad-Boubaker, Sondes Haddad-Boubaker, Marwa Arbi, Marwa Arbi, Oussema Souiai, Anissa Chouikha, Anissa Chouikha, Anissa Chouikha, Wasfi Fares, Wasfi Fares, Wasfi Fares, Kate Edington, Sam Sims, Cesare Camma, Alessio Lorusso, Moussa Moïse Diagne, Amadou Diallo, Ilhem Boutiba Ben Boubaker, Ilhem Boutiba Ben Boubaker, Sana Ferjani, Sana Ferjani, Maha Mastouri, Maha Mastouri, Salma Mhalla, Salma Mhalla, Hela Karray, Saba Gargouri, Olfa Bahri, Abdelhalim Trabelsi, Ouafa Kallala, Naila Hannachi, Yassine Chaabouni, Yassine Chaabouni, Hanen Smaoui, Hanen Smaoui, Hanen Smaoui, Khaoula Meftah, Khaoula Meftah, Khaoula Meftah, Sophia Besbes Bouhalila, Soumaya Foughali, Mariem Zribi, Asma Lamari, Asma Lamari, Henda Touzi, Henda Touzi, Henda Touzi, Mouna Safer, Nissaf Ben Alaya, Nissaf Ben Alaya, Alia Ben Kahla, Mariem Gdoura, Mariem Gdoura, Mariem Gdoura, Mariem Gdoura, Henda Triki, Henda Triki, Henda Triki, Henda Triki

Connect to this object online.

Transmission ecology of Trypanosoma cruzi by Rhodnius prolixus (Reduviidae: Triatominae) infesting palm-tree species in the Colombian Orinoco, indicates risks to human populations. by Plutarco Urbano, Carolina Hernández, Natalia Velásquez-Ortiz, Nathalia Ballesteros, Luisa Páez-Triana, Laura Vega, Vanessa Urrea, Angie Ramírez, Marina Muñoz, Carlos N Ibarra-Cerdeña, Camila González, Juan David Ramírez

Connect to this object online.

Whole genome sequencing of M.tuberculosis in Kazakhstan: preliminary data by Ulykbek Kairov, Ulan Kozhamkulov, Saule Rakhimova, Ayken Askapuli, Maxat Zhabagin, Venera Bismilda, Leyla Chingissova, Zhaxybay Zhumadilov, Ainur Akilzhanova

Connect to this object online.

Molecular characterisation of human rabies in Tanzania and Kenya: a case series report and phylogenetic investigation by Gurdeep Jaswant, Kathryn Campbell, Anna Czupryna, Athman Mwatondo, Brian Ogoti, Carmen W. E. Embregts, Corine H. GeurtsvanKessel, Charles Kayuki, Davis Kuchaka, Gati Wambura, James Oigo, Joel Changalucha, Julius O. Oyugi, Kennedy Lushasi, Lwitiko Sikana, Marco van Zwetselaar, Marieke C. J. Dekker, Mathew Muturi, Marybeth Maritim, Mumbua Mutunga, Rowan Durrant, Tom Abala, Veronicah Chuchu, Kirstyn Brunker, S. M. Thumbi, Katie Hampson

Connect to this object online.

MicroRNA-96 Promotes Vascular Repair in Oxygen-Induced Retinopathy-A Novel Uncovered Vasoprotective Function by Michel Desjarlais, Maëlle Wirth, José Carlos Rivera, José Carlos Rivera, Isabelle Lahaie, Rabah Dabouz, Samy Omri, Pakiza Ruknudin, Celine Borras, Sylvain Chemtob, Sylvain Chemtob

Connect to this object online.

Biomarkers and prognostic factors of PD-1/PD-L1 inhibitor-based therapy in patients with advanced hepatocellular carcinoma by Nan Zhang, Xu Yang, Mingjian Piao, Ziyu Xun, Yunchao Wang, Cong Ning, Xinmu Zhang, Longhao Zhang, Yanyu Wang, Shanshan Wang, Jiashuo Chao, Zhenhui Lu, Xiaobo Yang, Hanping Wang, Haitao Zhao

Connect to this object online.

Combined miRNA and SERS urine liquid biopsy for the point-of-care diagnosis and molecular stratification of bladder cancer by Tudor Moisoiu, Mihnea P. Dragomir, Stefania D. Iancu, Simon Schallenberg, Giovanni Birolo, Giulio Ferrero, Dan Burghelea, Andrei Stefancu, Ramona G. Cozan, Emilia Licarete, Alessandra Allione, Giuseppe Matullo, Gheorghita Iacob, Zoltán Bálint, Radu I. Badea, Alessio Naccarati, David Horst, Barbara Pardini, Nicolae Leopold, Florin Elec

Connect to this object online.

Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia by Ching-Yuan Wang, Yen-An Tang, I-Wen Lee, Fong-Ming Chang, Chun-Wei Chien, Hsien-An Pan, H. Sunny Sun

Connect to this object online.

Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge by Erwin Brosens, Nina C. J. Peters, Kim S. van Weelden, Kim S. van Weelden, Kim S. van Weelden, Charlotte Bendixen, Rutger W. W. Brouwer, Rutger W. W. Brouwer, Frank Sleutels, Hennie T. Bruggenwirth, Wilfred F. J. van Ijcken, Wilfred F. J. van Ijcken, Danielle C. M. Veenma, Danielle C. M. Veenma, Suzan C. M. Cochius-Den Otter, Rene M. H. Wijnen, Alex J. Eggink, Marieke F. van Dooren, Heiko Martin Reutter, Heiko Martin Reutter, Robbert J. Rottier, Robbert J. Rottier, J. Marco Schnater, Dick Tibboel, Annelies de Klein

Connect to this object online.

PIK3CA mutation correlates with mTOR pathway expression but not clinical and pathological features in Fibfibroipose vascular anomaly (FAVA) by Yumiko Hori, Katsutoshi Hirose, Michio Ozeki, Kenji Hata, Daisuke Motooka, Shinichiro Tahara, Takahiro Matsui, Masaharu Kohara, Hiroki Higashihara, Yusuke Ono, Kaishu Tanaka, Satoru Toyosawa, Eiichi Morii

Connect to this object online.

The molecular epidemiology of a dengue virus outbreak in Taiwan: population wide versus infrapopulation mutation analysis. by You-Yuan Tsai, Dayna Cheng, Sheng-Wen Huang, Su-Jhen Hung, Ya-Fang Wang, Yih-Jyh Lin, Huey-Pin Tsai, Justin Jang Hann Chu, Jen-Ren Wang

Connect to this object online.

11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies by Xuejiao Chen, Huihui Xu, Weiwu Shi, Feng Wang, Fenfen Xu, Yang Zhang, Jun Gan, Xiong Tian, Baojun Chen, Meizhen Dai

Connect to this object online.

Discovery of novel rhabdoviruses in the blood of healthy individuals from West Africa. by Matthew H Stremlau, Kristian G Andersen, Onikepe A Folarin, Jessica N Grove, Ikponmwonsa Odia, Philomena E Ehiane, Omowunmi Omoniwa, Omigie Omoregie, Pan-Pan Jiang, Nathan L Yozwiak, Christian B Matranga, Xiao Yang, Stephen K Gire, Sarah Winnicki, Ridhi Tariyal, Stephen F Schaffner, Peter O Okokhere, Sylvanus Okogbenin, George O Akpede, Danny A Asogun, Dennis E Agbonlahor, Peter J Walker, Robert B Tesh, Joshua Z Levin, Robert F Garry, Pardis C Sabeti, Christian T Happi

Connect to this object online.

Investigation of in vitro susceptibility and resistance mechanisms to amikacin among diverse carbapenemase-producing Enterobacteriaceae by Xiaoyan Wu, Xiaosi Li, Junjie Yu, Chenliang Fan, Mengli Shen, Xiangchen Li

Connect to this object online.