Search filters

List of works by Oana Moldovan

A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome w

scientific article published on 10 August 2011

Caffey disease in neonatal period: the importance of the family!

scientific article published on 9 October 2012

Cardiac Anderson-Fabry disease: lessons from a 25-year-follow up

scientific article published on 01 April 2014

Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.

scientific article

Macrodactyly in tuberous sclerosis complex: Case report and review of the literature

scientific article published on 26 April 2016

Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

scientific article

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

scientific article published on 23 November 2011

Puffy feet in a female neonate.

scientific article published on 10 August 2016

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes

scientific article published on 26 March 2014

Paulina is supported by:

About Paulina

Help