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

Novel CLTC variants cause new brain and kidney phenotypes

Genotype–phenotype specificity in Menke–Hennekam syndrome caused

De novo ANKRD11 and KDM1A gene mutations in a male with features

Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki

The missing link between genetic association and regulatory

Genotype–phenotype specificity in Menke–Hennekam syndrome caused

Community‐based recruitment and exome sequencing indicates high

177Lu-3BP-227 for Neurotensin Receptor 1–Targeted Therapy of

De novo heterozygous Hb G-Waimanalo (α64(E13)Asp>Asn, CTG>CCG

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with

Okamoto syndrome has features overlapping with Au–Kline syndrome

Novel NTRK1 mutations in Chinese patients with congenital

A novel CCBE1 mutation leading to a mild form of hennekam syndrome