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Epidermal second-hit mutation in MVK gene associated with linear porokeratosis.
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Supplement: mmc3.xlsx › standard
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
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Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
Targeted Resequencing of Otosclerosis Patients from Different Populations Replicates Results from a Previous Genome-Wide Association Study.
Tavernier LJM et al.
Journal of Clinical Medicine, 2022
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR
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
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.
Monticelli M et al.
European Journal of Medical Genetics, 2021
33872774 (PubMed )
Supplement: mmc2.xlsx › Foglio1
Minor variant of AHSG gene 767C>G polymorphism may decrease the risk of gestational diabetes mellitus.
Akbas H et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 2020
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
26075876 (PubMed )
Supplement: kaup-11-06-1043077-s001.zip › 1043077_supplemental_files › TABLE_S6.xlsx › results
SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.
Chelala C et al.
Bioinformatics (oxford, England), 2009
Alterations in SAMD9, AHSG, FRG2C, and FGFR4 Genes in a Case of Late-Onset Massive Tumoral Calcinosis.
Leow MKS et al.
Aace Clinical Case Reports, 0
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