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New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

Journal of human genetics, 2015-06, Vol.60 (6), p.305-312

2015

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A Novel Domain‐Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone

Journal of bone and mineral research, 2016-04, Vol.31 (4), p.874-881

2016

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Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

Biomedicines, 2022-11, Vol.10 (12), p.3078

2022

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Exhaled nitric oxide fraction as an add-on to ACQ-7 for not well controlled asthma detection

PloS one, 2013-10, Vol.8 (10), p.e77085-e77085

2013

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Rationale and Methodology of the SARAH Trial: Long-Term Cardiovascular Outcomes in Patients With Resistant Hypertension and Obstructive Sleep Apnea

Archivos de bronconeumología (English ed.), 2018-10, Vol.54 (10), p.518-523

2018

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A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

Journal of clinical medicine, 2014-07, Vol.3 (3), p.838-848

2014

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An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy

Neurological sciences, 2023-09, Vol.44 (9), p.3303-3305

2023

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Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

The Journal of pediatrics, 2021-04, Vol.231, p.148-156

2021

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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

American journal of human genetics, 2022-02, Vol.109 (2), p.345-360

2022

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Diagnostic utility of inflammatory biomarkers in asthma: Exhaled nitric oxide and induced sputum eosinophil count

Respiratory medicine, 2007-11, Vol.101 (11), p.2416-2421

2007

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The contribution of 7q33 copy number variations for intellectual disability

Neurogenetics, 2018, Vol.19 (1), p.27-40

2018

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Determinación de óxido nítrico en aire espirado (FE NO) mediante un equipo portátil (NIOX-MINO ® Aerocrine) en población sana

Archivos de bronconeumología, 2007, Vol.43 (3), p.176-179

2007

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Dominant mutations in ROR2 , encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

Nature genetics, 2000-03, Vol.24 (3), p.275-278

2000

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The clinical and neurocognitive features of Digeorge syndrome patients of Centro de Genética Médica Doutor Jacinto Magalhães

Nascer e crescer, 2016-12, Vol.25 (suppl 1), p.20-20

2016

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Determining the alveolar component of nitric oxide in exhaled air: procedures and reference values for healthy persons

Archivos de bronconeumología, 2009-03, Vol.45 (3), p.145-149

2009

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A novel missense mutation in the alphatropomyosin (TPM1) gene in a family affected with hypertrophic cardiomyopathy

Nascer e crescer, 2016-12, Vol.25 (suppl 1), p.15-15

2016

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Síndrome de deleção 22q11.2: diagnóstico em idade adulta - experiência do Centro de Genética Médica Doutor Jacinto Magalhães - CHP

Nascer e crescer, 2015-02, Vol.24 (suppl 1), p.14-14

2015

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Phenotypic spectrum of DCX pathogenic mutations in females: from childhood to adulthood clinical onset

Nascer e crescer, 2015-02, Vol.24 (suppl 1), p.23-24

2015

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Rationale and Methodology of the SARAH Trial: Long-Term Cardiovascular Outcomes in Patients With Resistant Hypertension and Obstructive Sleep Apnea

Archivos de bronconeumología (English ed.), 2018-10, Vol.54 (10), p.518-523

2018

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Authors' Reply to “Statistical Methods for Comparing Methods of Measurement”

Archivos de bronconeumología (English ed.), 2008, Vol.44 (10), p.580-580

2008

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Measurement of Fraction of Exhaled Nitric Oxide With the Portable NIOX-MINO Monitor in Healthy Adult

Archivos de bronconeumología (English ed.), 2007, Vol.43 (3), p.176-179

2007

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Determining the Alveolar Component of Nitric Oxide in Exhaled Air: Procedures and Reference Values for Healthy Persons

Archivos de bronconeumología (English ed.), 2009-03, Vol.45 (3), p.143-147

2009

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Sugar-Lowering Drugs for Type 2 Diabetes Mellitus and Metabolic Syndrome-Review of Classical and New Compounds: Part-I

Pharmaceuticals (Basel, Switzerland), 2019-10, Vol.12 (4), p.152

2019

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Rethinking carbamazepine oral delivery using polymer-lipid hybrid nanoparticles

International journal of pharmaceutics, 2019-01, Vol.554, p.352-365

2019

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Constrained and virtually traveling? Exploring the effect of travel constraints on intention to use virtual reality in tourism

Technology in society, 2022-11, Vol.71, p.102091, Article 102091

2022

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New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

A Novel Domain‐Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone

Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication

Exhaled nitric oxide fraction as an add-on to ACQ-7 for not well controlled asthma detection

Rationale and Methodology of the SARAH Trial: Long-Term Cardiovascular Outcomes in Patients With Resistant Hypertension and Obstructive Sleep Apnea

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy

Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

Diagnostic utility of inflammatory biomarkers in asthma: Exhaled nitric oxide and induced sputum eosinophil count

The contribution of 7q33 copy number variations for intellectual disability

Determinación de óxido nítrico en aire espirado (FE NO) mediante un equipo portátil (NIOX-MINO ® Aerocrine) en población sana

Dominant mutations in ROR2 , encoding an orphan receptor tyrosine kinase, cause brachydactyly type B

The clinical and neurocognitive features of Digeorge syndrome patients of Centro de Genética Médica Doutor Jacinto Magalhães

Determining the alveolar component of nitric oxide in exhaled air: procedures and reference values for healthy persons

A novel missense mutation in the alphatropomyosin (TPM1) gene in a family affected with hypertrophic cardiomyopathy

Síndrome de deleção 22q11.2: diagnóstico em idade adulta - experiência do Centro de Genética Médica Doutor Jacinto Magalhães - CHP

Phenotypic spectrum of DCX pathogenic mutations in females: from childhood to adulthood clinical onset

Rationale and Methodology of the SARAH Trial: Long-Term Cardiovascular Outcomes in Patients With Resistant Hypertension and Obstructive Sleep Apnea

Authors' Reply to “Statistical Methods for Comparing Methods of Measurement”

Measurement of Fraction of Exhaled Nitric Oxide With the Portable NIOX-MINO Monitor in Healthy Adult

Determining the Alveolar Component of Nitric Oxide in Exhaled Air: Procedures and Reference Values for Healthy Persons

Sugar-Lowering Drugs for Type 2 Diabetes Mellitus and Metabolic Syndrome-Review of Classical and New Compounds: Part-I

Rethinking carbamazepine oral delivery using polymer-lipid hybrid nanoparticles

Constrained and virtually traveling? Exploring the effect of travel constraints on intention to use virtual reality in tourism

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