Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect
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A MT-TL1 variant identified by whole exome sequencing in an
Two Pathogenic Variants in Two Ultra Rare Syndromes; Smith
Genetic and clinical heterogeneity in Korean patients with
Bi-allelic loss-of-function variants in TMEM147 cause moderate to
Rubinstein–Taybi syndrome: New neuroradiological and
IJMS, Free Full-Text
Rubinstein–Taybi syndrome in diverse populations - Tekendo
Cureus Rubinstein-Taybi Syndrome Associated with Pituitary
PDF) Chemical and genetic rescue of an ep300 knockdown model for
Chemical and genetic rescue of an ep300 knockdown model for
Is Asian type MS an MS phenotype, an NMO spectrum disorder, or a
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por adulto (o preço varia de acordo com o tamanho do grupo)
