Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect
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A novel de novo KCNB1 variant altering channel characteristics in
Current and upcoming therapies to modulate skin scarring and
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
A MT-TL1 variant identified by whole exome sequencing in an
Rubinstein‐Taybi Syndrome in a Fetus: Contribution of 2‐ and 3
Frameshift Mutation in Polar Rich Domain (PRD) of PQBP1 Gene
Anatomical and functional abnormalities on MRI in kabuki syndrome
PRRT2 mutation in a Japanese woman: Adult-onset focal epilepsy
Bi-allelic loss-of-function variants in TMEM147 cause moderate to
Bi-allelic loss-of-function variants in TMEM147 cause moderate to
Frontiers Identifying and Predicting Autism Spectrum Disorder
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