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Deletion mutation

Novel genes and mutations in patients affected by recurrent pregnancy loss

Paula Quintero-Ronderos, Eric Mercier, [ ... ], Paul Laissue

CT characteristics in pulmonary adenocarcinoma with epidermal growth factor receptor mutation

Jing Zhao, Julien Dinkel, [ ... ], Claus Peter Heussel

Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing

Yihua Yao, Xuedong Zheng, [ ... ], Yihua Zhu

Overall survival in EGFR mutated non-small-cell lung cancer patients treated with afatinib after EGFR TKI and resistant mechanisms upon disease progression

A. J. van der Wekken, J. L. Kuiper, [ ... ], H. J. M. Groen

Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

Beata S. Lipska-Ziętkiewicz, Jutta Gellermann, [ ... ], on behalf of The PodoNet Consortium

Exome sequencing in schizophrenic patients with high levels of homozygosity identifies novel and extremely rare mutations in the GABA/glutamatergic pathways

Edoardo Giacopuzzi, Massimo Gennarelli, [ ... ], Chiara Magri

Beyond disease-progression: Clinical outcomes after EGFR-TKIs in a cohort of EGFR mutated NSCLC patients

Roxana Alina Tudor, Adrijana D'Silva, [ ... ], Dafydd Gwyn Bebb

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia

Joel Fedida, Veronique Fressart, [ ... ], Estelle Gandjbakhch

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

Ebun Omoyinmi, Ariane Standing, [ ... ], Paul A. Brogan

Modeling the dynamics of chromosomal alteration progression in cervical cancer: A computational model

Augusto Cabrera-Becerril, Cruz Vargas-De-León, [ ... ], Raúl Peralta

Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling

Swati Tomar, Raman Sethi, [ ... ], Poh San Lai

Sex initiates adaptive evolution by recombination between beneficial loci

Thomas Scheuerl, Claus-Peter Stelzer

The percentage of Epidermal Growth Factor Receptor (EGFR)-mutated neoplastic cells correlates to response to tyrosine kinase inhibitors in lung adenocarcinoma

Dario de Biase, Giovenzio Genestreti, [ ... ], Alba A. Brandes

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