Associated Papers
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability-An Exception or a Necessity?
Ilic N et al.
Genes, 2024
38927725 (PubMed )
Supplement: genes-15-00789-s001.zip › genes-3017928-supplementary.pdf
A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.
Shangguan H et al.
European Journal of Pediatrics, 2024
Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.
Shangguan H et al.
Frontiers in Pediatrics, 2022
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