Results 111 to 120 of about 772 (167)

Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome. [PDF]

open access: yesEur J Hum Genet
Mitchell LA   +13 more
europepmc   +1 more source

Microspherophakia with an atypical temporal iris coloboma in a young female. [PDF]

open access: yesBMJ Case Rep
Shah A   +3 more
europepmc   +1 more source

From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel <i>KRT2</i> variant in superficial epidermolytic ichthyosis with excellent retinoid response. [PDF]

open access: yesJAAD Int
Bobica AC   +12 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy