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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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Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication

Egyptian Journal of Medical Human Genetics, 2024-09, Vol.25 (1), p.99, Article 99

2024

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Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions

Genetics in Medicine Open, 2023, Vol.1 (1), p.100781, Article 100781

2023

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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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Biomarkers of carcinogenesis and tumour growth in patients with cutaneous melanoma and obstructive sleep apnoea

The European respiratory journal, 2018-03, Vol.51 (3), p.1701885-1701885

2018

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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, 2022-12, Vol.11 (1), p.12

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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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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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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Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges

Endocrine, metabolic & immune disorders drug targets, 2023-12, Vol.24

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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Measurement of asthma control according to Global Initiative for Asthma guidelines: a comparison with the Asthma Control Questionnaire

Respiratory research, 2012-06, Vol.13 (1), p.50-50, Article 50

2012

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Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital

Endocrine, metabolic & immune disorders drug targets, 2023-09, Vol.23

2023

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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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Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene Pleiotropy

European Endocrinology, 2020, Vol.16 (1), p.66-68

2020

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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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The contribution of 7q33 copy number variations for intellectual disability

Neurogenetics, 2018-01, Vol.19 (1), p.27-40

2018

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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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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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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

Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication

Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions

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

Biomarkers of carcinogenesis and tumour growth in patients with cutaneous melanoma and obstructive sleep apnoea

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)

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

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

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

Pre-implantation Genetic Testing in Inherited Metabolic Diseases? Stateof- the-art and current challenges

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

Measurement of asthma control according to Global Initiative for Asthma guidelines: a comparison with the Asthma Control Questionnaire

Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital

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

Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease – A Rare Case Concerning PMM2 Gene Pleiotropy

Genomic imbalances defining novel intellectual disability associated loci

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

Long-term effect of obstructive sleep apnoea management on blood pressure in patients with resistant hypertension: the SARAH study

The contribution of 7q33 copy number variations for intellectual disability

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

The Effect of Obstructive Sleep Apnea on Subclinical Target Organ Damage in Patients With Resistant Hypertension

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

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