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The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Biallelic variants in CENPF causing a phenotype distinct from Stromme syndrome
DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (vol 6, 92, 2021)
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder