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List of works by Isabella Lopes Monlleó

17p13.3 Microdeletion: Insights on Genotype-Phenotype Correlation.

scientific article published on 25 November 2016

A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis

scientific article published on 24 March 2016

A clinical study of 77 patients with mucopolysaccharidosis type II

scientific article

A multicentric association study between 39 genes and nonsyndromic cleft lip and palate in a Brazilian population.

scientific article published on 13 August 2015

Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome

scientific article published on 09 November 2020

Clinical Features in Patients With 22q11.2 Deletion Syndrome Ascertained by Palatal Abnormalities

scientific article published on 7 May 2014

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency ⬇️

scientific article published on November 1, 2012

Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature.

scientific article published on 26 February 2013

Diagnostic implications of associated defects in patients with typical orofacial clefts.

scientific article published on 4 June 2015

Evaluation of craniofacial care outside the Brazilian reference network for craniofacial treatment

scientific article published on 23 July 2008

Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature

scientific article published on 07 December 2015

Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.

scientific article published on 13 November 2014

Local strategies to address health needs of individuals with orofacial clefts in alagoas, Brazil

scientific article published on 11 January 2012

Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

scientific article published in September 2013

Ocular and craniofacial phenotypes in a large Brazilian family with congenital aniridia

article

Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate

scientific article

Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system

scientific article published on 9 October 2015

Study of IRF6 and 8q24 region in non-syndromic oral clefts in the Brazilian population.

scientific article

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