Purificacao Tavares

Porto, Portugal

Last Updated: 09/26/2026

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Found 14 publications

Genomic imbalances defining novel intellectual disability associated loci.

Genomic imbalances defining novel intellectual disability associated loci.

Journal: Orphanet journal of rare diseases

Published: January 16, 2019

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Journal: Neuropediatrics

Published: April 10, 2018

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review.

Journal: Frontiers in genetics

Published: April 10, 2018

DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine.

DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine.

Journal: Neuromuscular disorders : NMD

Published: October 11, 2017

The contribution of 7q33 copy number variations for intellectual disability.

The contribution of 7q33 copy number variations for intellectual disability.

Journal: Neurogenetics

Published: May 22, 2017

BCR-ABL V280G Mutation, Potential Role in Imatinib Resistance: First Case Report.

BCR-ABL V280G Mutation, Potential Role in Imatinib Resistance: First Case Report.

Journal: Clinical Medicine Insights. Oncology

Published: November 28, 2016

Different manifestations of class II division 2 incisor retroclination and their association with dental anomalies.

Different manifestations of class II division 2 incisor retroclination and their association with dental anomalies.

Journal: Journal of orthodontics

Published: December 04, 2013

Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

Cat eye syndrome and growth hormone deficiency with pituitary anomalies: a case report and review of the literature.

Journal: Gene

Published: June 20, 2013

Piebaldism and neurofibromatosis: state of knowledge.

Piebaldism and neurofibromatosis: state of knowledge.

Journal: Dermatology online journal

Published: February 05, 2013

Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene.

Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene.

Journal: BMJ case reports

Published: July 04, 2012

Microarray for skeletal dysplasias: thanatophoric dysplasia diagnosed in utero using microarray technology.

Microarray for skeletal dysplasias: thanatophoric dysplasia diagnosed in utero using microarray technology.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: June 30, 2012

Instability of mRNA expression signatures of drug transporters in chronic myeloid leukemia patients resistant to imatinib.

Instability of mRNA expression signatures of drug transporters in chronic myeloid leukemia patients resistant to imatinib.

Journal: Oncology reports

Published: June 29, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026