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
Descrição
PDF) Menke–Hennekam Syndrome: A Literature Review and a New Case
PDF) Menke–Hennekam Syndrome: A Literature Review and a New Case
KRIT1 mutations in three Japanese pedigrees with hereditary
Association of novel mutation in TRPV4 with familial nonsyndromic
De novo ANKRD11 and KDM1A gene mutations in a male with features
Extending the phenotype associated with the CSNK2A1‐related Okur
Whole exome sequencing in congenital pain insensitivity identifies
TTC5 syndrome: Clinical and molecular spectrum of a severe and
Further delineation of an entity caused by CREBBP and EP300
Genes, Free Full-Text
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
PDF) TTC5 syndrome: Clinical and molecular spectrum of a severe
de
por adulto (o preço varia de acordo com o tamanho do grupo)
