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- 2021
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Mark
Rare, Damaging DNA Variants in CORIN and Risk of Coronary Artery Disease : Insights From Functional Genomics and Large-Scale Sequencing Analyses
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- Contribution to journal › Article
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Mark
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
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- Contribution to journal › Article
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Mark
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy
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- Contribution to journal › Article
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Mark
Diagnostic approach to paediatric movement disorders : a clinical practice guide
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- Contribution to journal › Article
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Mark
Complete Genome Sequence of an Antimicrobial-Producing Bacillus velezensis Sam8H1 Isolate from the Makgadikgadi Saltpans of Botswana
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- Contribution to journal › Article
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Mark
Genetic basis of lacunar stroke : a pooled analysis of individual patient data and genome-wide association studies
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- Contribution to journal › Article
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Mark
Novel single nucleotide deletion in ART4 accounts for the Gy(a-) phenotype in a woman of Lebanese origin
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- Contribution to journal › Article
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Mark
Challenges in Clinicogenetic Correlations : One Phenotype – Many Genes
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- Contribution to journal › Scientific review
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Mark
Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium
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- Contribution to journal › Article
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Mark
DNA repair gene polymorphisms and chromosomal aberrations in healthy, nonsmoking population
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- Contribution to journal › Article