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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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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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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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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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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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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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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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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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Brugada syndrome: a 9 year retrospective analysis

Nascer e crescer, 2016-12, Vol.25 (suppl 1), p.13-13

2016

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

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

2014

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REMOVED: Identification of novel genetic causes of Rett syndrome-like phenotypes by whole exome sequencing

International journal of developmental neuroscience, 2015-12, Vol.47 (Pt A), p.99-99

2015

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ISDN2014_0322: REMOVED: Identification of novel genetic causes of Rett syndrome‐like phenotypes by whole exome sequencing

International journal of developmental neuroscience, 2015-12, Vol.47 (Part_A), p.99-99

2015

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Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement: PRENATAL FOETAL DIAGNOSIS OF PARTIAL TRISOMY 3Q AND MONOSOMY 13P

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

2005

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Frontotemporal dementia and neuronal ceroid lipofuscinosis

Nascer e crescer, 2015-02, Vol.24 (suppl 1), p.26-26

2015

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Pachydysostosis of the fibula in a case of familial adenomatous polyposis

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

2024

Volltextzugriff (PDF)

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, Vol.24 (4), p.262-266

2019

Volltextzugriff (PDF)

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

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

2021

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

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

2016

Volltextzugriff (PDF)

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Pachydysostosis of the fibula in a case of familial adenomatous polyposis

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

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

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

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

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

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

Brugada syndrome: a 9 year retrospective analysis

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

REMOVED: Identification of novel genetic causes of Rett syndrome-like phenotypes by whole exome sequencing

ISDN2014_0322: REMOVED: Identification of novel genetic causes of Rett syndrome‐like phenotypes by whole exome sequencing

Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement: PRENATAL FOETAL DIAGNOSIS OF PARTIAL TRISOMY 3Q AND MONOSOMY 13P

Frontotemporal dementia and neuronal ceroid lipofuscinosis

Pachydysostosis of the fibula in a case of familial adenomatous polyposis

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

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

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

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