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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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Prevalence, Characteristics, and Association of Obstructive Sleep Apnea with Blood Pressure Control in Patients with Resistant Hypertension

Annals of the American Thoracic Society, 2019-11, Vol.16 (11), p.1414-1421

2019

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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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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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A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)

Biomedicines, 2023-01, Vol.11 (1), p.12

2023

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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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Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

Clinical case reports, 2020-12, Vol.8 (12), p.2476-2482

2020

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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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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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Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V

Pediatric research, 2024-07, Vol.96 (2), p.365-371

2024

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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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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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Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

Molecular genetics & genomic medicine, 2015-05, Vol.3 (3), p.203-214

2015

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Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

JIMD Reports, Volume 26, 2016-01, Vol.26, p.53-60

2016

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

Prevalence, Characteristics, and Association of Obstructive Sleep Apnea with Blood Pressure Control in Patients with Resistant Hypertension

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

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

A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1)

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

Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEB

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

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

Diagnostic accuracy and the first genotype–phenotype correlation in glycogen storage disease type V

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

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

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels

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

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