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Pachydysostosis of the fibula in a case of familial adenomatous polyposis

European journal of medical genetics, 2024-04, Vol.68, p.104913, Article 104913

2024

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

European journal of medical genetics, 2017-08, Vol.60 (8), p.426-432

2017

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Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism

Anais brasileiros de dermatología, 2016-12, Vol.91 (6), p.837-839

2016

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12q21.2q22 deletion: A new patient

American journal of medical genetics. Part A, 2015-08, Vol.167A (8), p.1877-1883

2015

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

Journal of genetic counseling, 2013-08, Vol.22 (4), p.448-454

2013

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

European journal of human genetics : EJHG, 2007-08, Vol.15 (8), p.902-904

2007

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Síndrome de Marfan

Nascer e crescer, 2016-12, Vol.25 (suppl 1), p.07-07

Venâncio, Margarida

2016

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Expressão fenotípica da miocardiopatia hipertrófica e realce tardio na ressonância magnética cardíaca

Revista portuguesa de cardiologia, 2014-05, Vol.33 (5), p.261-267

2014

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

Annals of Pediatric Endocrinology & Metabolism, 2019, 24(4), , pp.262-266

2019

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

Journal of medical genetics, 2014-09, Vol.51 (9), p.605-613

2014

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

European journal of medical genetics, 2015-09, Vol.58 (9), p.455-465

2015

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

Journal of child neurology, 2009-01, Vol.24 (1), p.49-55

2009

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Simpson‐Golabi‐Behmel syndrome: One family, same mutation, different outcome

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2502-2506

2021

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Left ventricular noncompaction: analysis of a pediatric population

Revista portuguesa de cardiologia, 2011-03, Vol.30 (3), p.295-311

2011

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Influência do Tempo de Tratamento Térmico Pós-Polimerização na Microdureza de Resinas Bis-Acrílicas

Venâncio, Margarida Maria Roque

2020

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

Molecular cytogenetics, 2015-12, Vol.8 (105), p.103-103, Article 103

2015

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

Prenatal diagnosis, 2005-04, Vol.25 (4), p.292-295

2005

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

Annals of pediatric endocrinology & metabolism, 2019-12, p.262-266

2019

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

ISRN obstetrics and gynecology, 2011, Vol.2011, p.458120-5

2011

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

Molecular cytogenetics, 2012-05, Vol.5 (1), p.25-25

2012

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Autosomal Recessive Axonal Neuropathy With Neuromyotonia: A Rare Entity

Pediatric neurology, 2014, Vol.50 (1), p.104-107

2014

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Intellectual disability, unusual facial morphology and hand anomalies in sibs

American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2401-2406

2013

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

Revista portuguesa de cardiologia, 2014-05, Vol.33 (5), p.261-267

2014

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

Journal of human genetics, 2010-01, Vol.55 (1), p.55-58

2010

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Clinical dividends from the molecular genetic diagnosis of craniosynostosis

American journal of medical genetics. Part A, 2006-12, Vol.140A (23), p.2631-2639

2006

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Pachydysostosis of the fibula in a case of familial adenomatous polyposis

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

Do you know this syndrome? Dyspigmentation along the Blaschko lines caused by trisomy 7 mosaicism

12q21.2q22 deletion: A new patient

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

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

Síndrome de Marfan

Expressão fenotípica da miocardiopatia hipertrófica e realce tardio na ressonância magnética cardíaca

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

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

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

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

Simpson‐Golabi‐Behmel syndrome: One family, same mutation, different outcome

Left ventricular noncompaction: analysis of a pediatric population

Influência do Tempo de Tratamento Térmico Pós-Polimerização na Microdureza de Resinas Bis-Acrílicas

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

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

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

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

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

Autosomal Recessive Axonal Neuropathy With Neuromyotonia: A Rare Entity

Intellectual disability, unusual facial morphology and hand anomalies in sibs

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

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

Clinical dividends from the molecular genetic diagnosis of craniosynostosis

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