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Mutation detection

A Novel Mutation of DAX-1 Associated with Secretory Azoospermia

Lisha Mou, Nie Xie, [ ... ], Yaoting Gui

Comprehensive Molecular Analysis of NSCLC; Clinicopathological Associations

Ilenia Chatziandreou, Panagiota Tsioli, [ ... ], Angelica A. Saetta

Precise Classification of Cervical Carcinomas Combined with Somatic Mutation Profiling Contributes to Predicting Disease Outcome

Vivian M. Spaans, Marjolijn D. Trietsch, [ ... ], Ekaterina S. Jordanova

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

Berta Almoguera, Jiankang Li, [ ... ], Carmen Ayuso

Genetic Variants Associated with Port-Wine Stains

Alice Frigerio, Karol Wright, [ ... ], Pinar Bayrak-Toydemir

Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens

Christoph B. Geier, Alexander Piller, [ ... ], Hermann M. Wolf

Indexing Arbitrary-Length k-Mers in Sequencing Reads

Tomasz Kowalski, Szymon Grabowski, Sebastian Deorowicz

Association between MEFV Mutations M694V and M680I and Behçet’s Disease: A Meta-Analysis

Ziyan Wu, Shulan Zhang, [ ... ], Yongzhe Li

Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by Hereditary Hemorrhagic Telangiectasia

Ferdos Alaa el Din, Sylvie Patri, [ ... ], Alain Kitzis

A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome

Barshagul T. Baikara, Elena V. Zholdybayeva, [ ... ], Yerlan M. Ramanculov

Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis

Wei Xin, Xueshan Xiao, [ ... ], Qingjiong Zhang

Mutant IDH1 Dysregulates the Differentiation of Mesenchymal Stem Cells in Association with Gene-Specific Histone Modifications to Cartilage- and Bone-Related Genes

Yonghui Jin, Hassan Elalaf, [ ... ], Junya Toguchida

A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1

Irene Johnsrud, Mari Ann Kulseth, [ ... ], Ketil Heimdal

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