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growth retardation
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DLG4-related synaptopathy
Development, behaviour and autism in individuals with SMC1A variants
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains
Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database
Phenotypes and genotypes in individuals with SMC1A variants
A germline chromothripsis event stably segregating in 11 individuals through three generations
Refinement of Genotype-Phenotype Correlation in 18 Patients Carrying a 1q24q25 Deletion
Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-Convergence on axonal guidance