6 results on '"Tilemis, Faidon‐Nikolaos"'
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2. Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome
3. Combined exome analysis and exome depth assessment achieves a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms
4. Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7
5. A novel pathogenicATP6V1B2variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype
6. 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
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