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List of works by Juliana F Mazzeu

50 years of Robinow syndrome

scientific article published on 21 July 2020

Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form

scientific article published on 05 September 2020

Genotype and phenotype correlation in a family with a 2q37 deletion downstream of HDAC4

scientific article published on 20 May 2020

Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome

scientific article published on 28 July 2019

Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome

scientific article published on 21 September 2020

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

scientific article published on 13 October 2020

RYK Is Not Mutated in Autosomal Dominant Robinow Syndrome ⬇️

scientific article published on January 25, 2013

Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16) ⬇️

scientific article published on November 1, 2012

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