Associated Papers
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Heterozygosity in factor XIII genes and the manifestation of mild inherited factor XIII deficiency.
Singh S et al.
Journal of Thrombosis and Haemostasis : Jth, 2024
Identification of a novel mutation in the factor XIII A subunit in a patient with inherited factor XIII deficiency.
Yan L et al.
International Journal of Hematology, 2023
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).
Parsopoulou F et al.
Frontiers in Allergy, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M et al.
Diagnostics (basel, Switzerland), 2021
Important roles of the human leukocyte antigen class I and II molecules and their associated genes in the autoimmune coagulation factor XIII deficiency via whole-exome sequencing analysis.
Osaki T et al.
Plos One, 2021
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement.
Ma S et al.
Orphanet Journal of Rare Diseases, 2019
Factor XIII mutation spectrum in Iranian patients with hereditary factor XIII deficiency: Detection of 3 novel mutations.
Mirakhorli M et al.
International Journal of Laboratory Hematology, 2019
X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.
Khan MJ et al.
Scientific Reports, 2018
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data.
Koko M et al.
Bmc Genomics, 2018
Factor XIII levels and factor XIII B subunit polymorphisms in patients with venous thromboembolism.
Mezei ZA et al.
Thrombosis Research, 2017
Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.
Gonzalez-Covarrubias V et al.
Frontiers in Pharmacology, 2017
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015