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
PDF) Menke–Hennekam Syndrome: A Literature Review and a New Case
The novel and recurrent variants in exon 31 of CREBBP in Japanese
Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing
De novo ANKRD11 and KDM1A gene mutations in a male with features
Community‐based recruitment and exome sequencing indicates high
Novel exon-skipping variant disrupting the basic domain of HCFC1
A novel rasopathy caused by recurrent de novo missense mutations
Effectiveness of exome and genome sequencing guided by acuity of
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
Novel CLTC variants cause new brain and kidney phenotypes
A Novel Channelopathy in Pulmonary Arterial Hypertension
Novel CLTC variants cause new brain and kidney phenotypes
Menke-Hennekam syndrome
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