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 25 outubro 2024
Menke-Hennekam syndrome
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
Novel exon-skipping variant disrupting the basic domain of HCFC1
Novel NTRK1 mutations in Chinese patients with congenital
De novo heterozygous Hb G-Waimanalo (α64(E13)Asp>Asn, CTG>CCG
PDF) Menke–Hennekam Syndrome: A Literature Review and a New Case
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
The novel and recurrent variants in exon 31 of CREBBP in Japanese
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
Diagnosis of Menke‐Hennekam syndrome by prenatal whole exome
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
TTC5 syndrome: Clinical and molecular spectrum of a severe and
Genotype–phenotype specificity in Menke–Hennekam syndrome caused
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