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

The missing link between genetic association and regulatory

Confirmation of a new phenotype in an individual with a variant in

The novel and recurrent variants in exon 31 of CREBBP in Japanese

TTC5 syndrome: Clinical and molecular spectrum of a severe and

Genotype–phenotype specificity in Menke–Hennekam syndrome caused

PDF) Menke–Hennekam Syndrome: A Literature Review and a New Case

The novel and recurrent variants in exon 31 of CREBBP in Japanese

A novel SYNJ1 homozygous variant causing developmental and

Frontiers Case Report: Exome and RNA Sequencing Identify a Novel

KRIT1 mutations in three Japanese pedigrees with hereditary

Novel CLTC variants cause new brain and kidney phenotypes

Frontiers Novel Gross Deletion Mutations in NTRK1 Gene
de
por adulto (o preço varia de acordo com o tamanho do grupo)