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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 new tool to screen patients with severe obstructive sleep apnea in the primary care setting: a prospective multicenter study

BMC pulmonary medicine, 2022-01, Vol.22 (1), p.38-38, Article 38

2022

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A Randomized Controlled Trial of Continuous Positive Airway Pressure on Glucose Tolerance in Obese Patients with Obstructive Sleep Apnea

Sleep (New York, N.Y.), 2016-01, Vol.39 (1), p.35-41

2016

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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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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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Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases

Acta medica portuguesa, 2019-08, Vol.32 (7-8), p.529-535

2019

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Impact of OSA on biological markers in morbid obesity and metabolic syndrome

Journal of clinical sleep medicine, 2014-03, Vol.10 (3), p.263-270

2014

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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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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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Predicting factors of neurodevelopmental performance in children with phenylketonuria

American journal of medical genetics. Part A, 2023-06, Vol.191 (6), p.1525-1529

2023

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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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A randomized controlled trial: branched‐chain amino acid levels and glucose metabolism in patients with obesity and sleep apnea

Journal of sleep research, 2017-12, Vol.26 (6), p.773-781

2017

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Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center

JBRA assisted reproduction, 2023, Vol.27 (2), p.180-184

2023

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Genomic imbalances defining novel intellectual disability associated loci

Orphanet journal of rare diseases, 2019-07, Vol.14 (1), p.164-164, Article 164

2019

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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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Measurement of fraction of exhaled nitric oxide with the portable NIOX-MINO monitor in healthy adults

Archivos de bronconeumología, 2007-03, Vol.43 (3), p.176-179

2007

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Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

Journal of medical genetics, 2010-03, Vol.47 (3), p.169-175

2010

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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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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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Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis

Prenatal diagnosis, 1998-06, Vol.18 (6), p.611-617

1998

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Diagnosing congenital cytomegalovirus infections using archived dried blood spots: A 15-year observational study, Portugal

Journal of clinical virology, 2023-08, Vol.165, p.105516-105516, Article 105516

2023

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A Stepwise Framework for the Systematic Development of Lipid Nanoparticles

Biomolecules (Basel, Switzerland), 2022-01, Vol.12 (2), p.223

2022

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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Molecular psychiatry, 2023-02, Vol.28 (2), p.668-697

2023

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Sleep-Disordered Breathing Is Independently Associated With Increased Aggressiveness of Cutaneous Melanoma: A Multicenter Observational Study in 443 Patients

Chest, 2018-12, Vol.154 (6), p.1348-1358

2018

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

A new tool to screen patients with severe obstructive sleep apnea in the primary care setting: a prospective multicenter study

A Randomized Controlled Trial of Continuous Positive Airway Pressure on Glucose Tolerance in Obese Patients with Obstructive Sleep Apnea

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

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

Subtelomeric Rearrangements: Presentation of 21 Probands with Emphasis on Familial Cases

Impact of OSA on biological markers in morbid obesity and metabolic syndrome

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

Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience

Predicting factors of neurodevelopmental performance in children with phenylketonuria

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

A randomized controlled trial: branched‐chain amino acid levels and glucose metabolism in patients with obesity and sleep apnea

Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center

Genomic imbalances defining novel intellectual disability associated loci

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

Measurement of fraction of exhaled nitric oxide with the portable NIOX-MINO monitor in healthy adults

Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

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

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

Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis

Diagnosing congenital cytomegalovirus infections using archived dried blood spots: A 15-year observational study, Portugal

A Stepwise Framework for the Systematic Development of Lipid Nanoparticles

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Asthma outcomes improve with continuous positive airway pressure for obstructive sleep apnea

Sleep-Disordered Breathing Is Independently Associated With Increased Aggressiveness of Cutaneous Melanoma: A Multicenter Observational Study in 443 Patients

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