M. Venâncio

发表

An explanation for another familial case of Rett syndrome: maternal germline mosaicism

P. Maciel, M. Venâncio, Mónica Santos, 2007, European Journal of Human Genetics.

Clinical dividends from the molecular genetic diagnosis of craniosynostosis †

J. Hurst, A. Seller, A. Wilkie, 2007, American journal of medical genetics. Part A.

Clinical dividends from the molecular genetic diagnosis of craniosynostosis

J. Hurst, A. Seller, A. Wilkie, 2006, American Journal of Medical Genetics. Part A.

Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region

M. Venâncio, J. Saraiva, I. Carreira, 2012, Molecular Cytogenetics.

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes

Malene B. Rasmussen, N. Tommerup, C. Lourenço, 2014, Journal of Medical Genetics.

Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male Patients

G. Oliveira, P. Maciel, A. Medeira, 2009, Journal of child neurology.

Neurodevelopmental Phenotype in Male Patients Gene Are Not a Major Cause of Rett Syndrome-Like or RelatedMECP 2 Mutations in the

G. Oliveira, P. Maciel, A. Medeira, 2008 .

Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients

F. Caramelo, M. Venâncio, J. Saraiva, 2015, Molecular Cytogenetics.

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

J. Clayton-Smith, M. Tassabehji, W. Newman, 2015, European journal of medical genetics.

Accuracy of Prenatal Diagnosis in Elective Termination of Pregnancy: 385 Cases from 2000 to 2007

S. Maia, J. Saraiva, M. Venâncio, 2010, ISRN obstetrics and gynecology.

Copy number variants prioritization after array-CGH analysis – a cohort of 1000 patients

Joana Barbosa de Melo, F. Caramelo, M. Venâncio, 2015, Molecular Cytogenetics.

Intellectual disability, unusual facial morphology and hand anomalies in sibs

R. Hennekam, P. Beales, G. Moore, 2013, American journal of medical genetics. Part A.

Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS.

J. Casanova, F. Regateiro, L. Diogo, 2017, European journal of medical genetics.

Non-syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents’ Beliefs About the Cause of Their Children’s Deafness

J. Sequeiros, M. Paneque, M. Venâncio, 2013, Journal of Genetic Counseling.

Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement

S. Castedo, J. Saraiva, M. Venâncio, 2005, Prenatal diagnosis.

12q21.2q22 deletion: A new patient

M. Venâncio, J. Saraiva, J. Melo, 2015, American journal of medical genetics. Part A.

Phenotypic expression in hypertrophic cardiomyopathy and late gadolinium enhancement on cardiac magnetic resonance

M. Venâncio, J. Trigo, A. Botelho, 2014 .

Phenotypic expression in hypertrophic cardiomyopathy and late gadolinium enhancement on cardiac magnetic resonance

M. Venâncio, J. Trigo, A. Botelho, 2014 .

Identification of novel L2HGDH gene mutations and update of the pathological spectrum

A. Amorim, L. Diogo, L. Vilarinho, 2010, Journal of Human Genetics.

Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature

M. Venâncio, L. Ramos, M. Cascais, 2019, Annals of pediatric endocrinology & metabolism.

Pachydysostosis of the fibula in a case of familial adenomatous polyposis.

M. Venâncio, Daniela Oliveira, Sofia Maia, 2024, European journal of medical genetics.