The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
Por um escritor misterioso
Last updated 20 setembro 2024
The novel and recurrent variants in exon 31 of CREBBP in Japanese
TTC5 syndrome: Clinical and molecular spectrum of a severe and
A novel rasopathy caused by recurrent de novo missense mutations
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
Extending the phenotype associated with the CSNK2A1‐related Okur
De novo ANKRD11 and KDM1A gene mutations in a male with features
The novel and recurrent variants in exon 31 of CREBBP in Japanese
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
Facial morphology of the presently described patient with the
Okamoto syndrome has features overlapping with Au–Kline syndrome
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
Consolidating the association of biallelic MAPKAPK5 pathogenic
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