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Mutation detection

Molecular Dissection of the Basal Clades in the Human Y Chromosome Phylogenetic Tree

Rosaria Scozzari, Andrea Massaia, [ ... ], Fulvio Cruciani

Induced Tauopathy in a Novel 3D-Culture Model Mediates Neurodegenerative Processes: A Real-Time Study on Biochips

Diana Seidel, Dana Krinke, [ ... ], Andrea Robitzki

Multi-Purpose Utility of Circulating Plasma DNA Testing in Patients with Advanced Cancers

Geraldine Perkins, Timothy A. Yap, [ ... ], Johann S. de Bono

Mutation Frequency and Spectrum of Mutations Vary at Different Chromosomal Positions of Pseudomonas putida

Triinu Juurik, Heili Ilves, [ ... ], Maia Kivisaar

Efficient Detection of Mediterranean β-Thalassemia Mutations by Multiplex Single-Nucleotide Primer Extension

Biljana Atanasovska, Georgi Bozhinovski, Dijana Plaseska-Karanfilska, Lyubomira Chakalova

Mutation Analysis of BRCA1, BRCA2, PALB2 and BRD7 in a Hospital-Based Series of German Patients with Triple-Negative Breast Cancer

Franziska Pern, Natalia Bogdanova, [ ... ], Thilo Dörk

Naturally Occurring Precore/Core Region Mutations of Hepatitis B Virus Genotype C Related to Hepatocellular Carcinoma

Dong-Won Kim, Seoung-Ae Lee, [ ... ], Bum-Joon Kim

Differential In Vitro Kinetics of Drug Resistance Mutation Acquisition in HIV-1 RT of Subtypes B and C

Rodrigo D. Cunha, Celina M. Abreu, [ ... ], Amilcar Tanuri

Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism

Masaki Takagi, Tomohiro Ishii, [ ... ], Tomonobu Hasegawa

Novel HRPT2/CDC73 Gene Mutations and Loss of Expression of Parafibromin in Chinese Patients with Clinically Sporadic Parathyroid Carcinomas

Ou Wang, Chunyan Wang, [ ... ], Xiaoping Xing

U2AF1 Mutations in Chinese Patients with Acute Myeloid Leukemia and Myelodysplastic Syndrome

Jun Qian, Dong-ming Yao, [ ... ], Xing-xing Chen

A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

Tiecheng Liu, Xin Jin, [ ... ], Weifeng Wang

Functional Effects of Different Medium-Chain Acyl-CoA Dehydrogenase Genotypes and Identification of Asymptomatic Variants

Marga Sturm, Diran Herebian, [ ... ], Ute Spiekerkoetter

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