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Publications by Leonardo Caires dos Santos
Rare Single‐nucleotide Variants in Oculo‐auriculo‐vertebral Spectrum (OAVS)
Molecular genetics & genomic medicine
Genetics
Molecular Biology
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Oculo-Auriculo-Vertebral (Goldenhar's) Syndrome.
British Journal of Ophthalmology
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Ear Abnormalities in Patients With Oculo-Auriculo-Vertebral Spectrum (Goldenhar Syndrome)
Brazilian Journal of Otorhinolaryngology
Otorhinolaryngology
Chiari I Malformation, Syringomyelia and Papilledema: A Malformative Complex Connected to Oculo-Auriculo-Vertebral Spectrum
Journal of Biological Research (Italy)
Biochemistry
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Detection of Rare Single Nucleotide Variants Affecting Genes in the DNA Repair Pathways in Hereditary Breast Cancer
BMC Genomics
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Accurate Identification of Single-Nucleotide Variants in Whole-Genome-Amplified Single Cells
Nature Methods
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Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-Qt Syndrome
Circulation: Cardiovascular Genetics
An Intellectual Disability Syndrome With Single-Nucleotide Variants in O-GlcNAc Transferase
European Journal of Human Genetics
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High-Throughput Sequencing Reveals Single Nucleotide Variants in Longer-Kernel Bread Wheat
Frontiers in Plant Science
Plant Science
Reconstituting the Frequency Spectrum of Ascertained Single-Nucleotide Polymorphism Data
Genetics
Genetics
