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Insertion mutation

Copy Number of the Transposon, Pokey, in rDNA Is Positively Correlated with rDNA Copy Number in Daphnia obtusa

Kaitlynn LeRiche, Shannon H. C. Eagle, Teresa J. Crease

Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

Michel Guipponi, Federico A. Santoni, [ ... ], Stylianos E. Antonarakis

Inactivation of SAM-Methyltransferase is the Mechanism of Attenuation of a Historic Louse Borne Typhus Vaccine Strain

Yan Liu, Bin Wu, [ ... ], Xue-jie Yu

The Generation of Successive Unmarked Mutations and Chromosomal Insertion of Heterologous Genes in Actinobacillus pleuropneumoniae Using Natural Transformation

Janine T. Bossé, Denise M. Soares-Bazzolli, [ ... ], on behalf of the BRaDP1T Consortium

Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

Stefania Zampieri, Ezio Bianchi, [ ... ], Andrea Dardis

A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro

Guoyan Mo, Qin Ding, [ ... ], Guohua Yin

Presence of C1-Inhibitor Polymers in a Subset of Patients Suffering from Hereditary Angioedema

Daniel Elenius Madsen, Søren Hansen, [ ... ], Johannes Jakobsen Sidelmann

The NPM1 Mutation Type Has No Impact on Survival in Cytogenetically Normal AML

Friederike Pastore, Philipp A. Greif, [ ... ], Karsten Spiekermann

Molecular Pathology of Rare Bleeding Disorders (RBDs) in India: A Systematic Review

Bipin P. Kulkarni, Sona B. Nair, [ ... ], Kanjaksha Ghosh

Complex Analysis of Urate Transporters SLC2A9, SLC22A12 and Functional Characterization of Non-Synonymous Allelic Variants of GLUT9 in the Czech Population: No Evidence of Effect on Hyperuricemia and Gout

Olha Hurba, Andrea Mancikova, [ ... ], Blanka Stibůrková

First Report of a Deletion Encompassing an Entire Exon in the Homogentisate 1,2-Dioxygenase Gene Causing Alkaptonuria

Mohammad Zouheir Habbal, Tarek Bou-Assi, [ ... ], Farid F. Chehab

Wolfram Syndrome in the Japanese Population; Molecular Analysis of WFS1 Gene and Characterization of Clinical Features

Kimie Matsunaga, Katsuya Tanabe, [ ... ], Yukio Tanizawa

Prognostic Value Analysis of Mutational and Clinicopathological Factors in Non-Small Cell Lung Cancer

Chenguang Li, Ligang Hao, [ ... ], Changli Wang

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