12 results on '"Veltra, Danai"'
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2. A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?
3. The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review
4. Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast heterogeneous DMD gene variants.
5. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
6. Combined exome analysis and exome depth assessment achieves a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms
7. A novel pathogenicATP6V1B2variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype
8. CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
9. Ovarian insufficiency and secondary amenorrhea in a patient with a novel variant within GDF9 gene
10. Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders
11. Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype
12. Clinical utility of Whole Exome Sequencing for rare Mendelian disorders: phenotypic-driven strategy for a high diagnostic yield and identification of 48 novel variants
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