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Frameshift mutation

Two novel mutations in MSX1 causing oligodontia

Le Yang, Jia Liang, Haitang Yue, Zhuan Bian

published 08 Jan 2020

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Expression of mutant mRNA and protein in pancreatic cells derived from MODY3- iPS cells

Shigeharu G. Yabe, Junko Nishida, Satsuki Fukuda, Fujie Takeda, Kiyoko Nasiro, Kazuki Yasuda, Naoko Iwasaki, Hitoshi Okochi

published 30 May 2019

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Splice donor site sgRNAs enhance CRISPR/Cas9-mediated knockout efficiency

Ignacio García-Tuñón, Verónica Alonso-Pérez, Elena Vuelta, Sandra Pérez- Ramos, María Herrero, Lucía Méndez, Jesús María Hernández-Sánchez, Marta Martín-Izquierdo, Raquel Saldaña, Julián Sevilla, Fermín Sánchez- Guijo, Jesús María Hernández-Rivas, Manuel Sánchez-Martín

published 09 May 2019

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Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world

Samuel Guan Wei Ow, Pei Yi Ong, Soo-Chin Lee

published 15 Mar 2019

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Molecular epidemiology and expression of capsular polysaccharides in Staphylococcus aureus clinical isolates in the United States

Naglaa Mohamed, Yekaterina Timofeyeva, Dorota Jamrozy, Eduardo Rojas, Li Hao, Natalie C. Silmon de Monerri, Julio Hawkins, Guy Singh, Bing Cai, Paul Liberator, Shite Sebastian, Robert G. K. Donald, Ingrid L. Scully, C. Hal Jones, C. Buddy Creech, Isaac Thomsen, Julian Parkhill, Sharon J. Peacock, Kathrin U. Jansen, Matthew T. G. Holden, Annaliesa S. Anderson

published 14 Jan 2019

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A novel truncating variant of GLI2 associated with Culler-Jones syndrome impairs Hedgehog signalling

Fabiola Valenza, Davide Cittaro, Elia Stupka, Donatella Biancolini, Maria Grazia Patricelli, Dario Bonanomi, Dejan Lazarević

published 10 Jan 2019

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Prevalence of elevated microsatellite alterations at selected tetranucleotide repeats in pancreatic ductal adenocarcinoma

Taiki Mori, Yasushi Hamaya, Takahiro Uotani, Mihoko Yamade, Moriya Iwaizumi, Takahisa Furuta, Hiroaki Miyajima, Satoshi Osawa, Ken Sugimoto

published 07 Dec 2018

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New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J. Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V. Cervera, Jose M. Millan, Laia Pedrola

published 05 Dec 2018

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Adaptation of Pseudomonas aeruginosa to the chronic phenotype by mutations in the algTmucABD operon in isolates from Brazilian cystic fibrosis patients

Natália Candido Caçador, Carolina Paulino da Costa Capizzani, Lídia Alice Gomes Monteiro Marin Torres, Renata Galetti, Oana Ciofu, Ana Lúcia da Costa Darini, Niels Høiby

published 29 Nov 2018

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Discovery of a Streptococcus pneumoniae serotype 33F capsular polysaccharide locus that lacks wcjE and contains a wcyO pseudogene

Sam Manna, Eileen M. Dunne, Belinda D. Ortika, Casey L. Pell, Mike Kama, Fiona M. Russell, Tuya Mungun, E. Kim Mulholland, Jason Hinds, Catherine Satzke

published 05 Nov 2018

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Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds

Fabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, Sylvain Hanein, Marie-Claude Stolzenberg, Zhi Li, Sandra Pellegrini, Nicolas Garcelon, Marc Jeanpierre, Bénédicte Neven, Isabelle Loge, Capucine Picard, Jérémie Rosain, Jacinta Bustamante, Marc Le Lorc’h, Bénédicte Pigneur, Alicia Fernandes, GENIUS Group , Frédéric Rieux-Laucat, Jorge Amil Dias, Frank M. Ruemmele, Nadine Cerf-Bensussan

published 26 Oct 2018

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Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants

Marina Andjelkovic, Predrag Minic, Misa Vreca, Maja Stojiljkovic, Anita Skakic, Aleksandar Sovtic, Milan Rodic, Vesna Skodric-Trifunovic, Nina Maric, Jelena Visekruna, Vesna Spasovski, Sonja Pavlovic

published 09 Oct 2018

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Whole-exome sequencing capture kit biases yield false negative mutation calls in TCGA cohorts

Victor G. Wang, Hyunsoo Kim, Jeffrey H. Chuang

published 03 Oct 2018

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