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List of works by Chumei Li

A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features ⬇️

scientific article published on 01 November 2010

A prenatally recognizable malformation syndrome associated with a recurrent post‐zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21) ⬇️

scientific article published on 01 September 2010

Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome

scientific article published on 31 January 2017

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

scientific article published on 13 February 2018

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature ⬇️

scientific article published on March 25, 2013

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