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Whole‐Exome Sequencing for Variant Discovery in Blepharospasm
Missense variant of endoplasmic reticulum region of WFS1 gene causes autosomal dominant hearing loss without syndromic phenotype
Nkx2.3 Transcription factor is a key regulator of mucous cell identity in salivary glands
Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4
Ouabain induces transcript changes and activation of RhoA/ROCK signaling in cultured epithelial cells (MDCK)
A missense variation in PHACTR2 associates with impaired actin dynamics, dilated cardiomyopathy, and left ventricular non-compaction in humans
Genetic load of alternations of transcription factor genes in non-syndromic deafness and the associated clinical phenotypes: experience from two tertiary referral centers
Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome
Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup
Search for a genetic cause in children with unilateral isolated microtia and congenital aural atresia
