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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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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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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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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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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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Restoring the epigenome in Alzheimer's disease: advancing HDAC inhibitors as therapeutic agents

Drug discovery today, 2024-07, Vol.29 (7), p.104052, Article 104052

2024

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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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Risk factors for mortality in patients with COVID-19 needing extracorporeal respiratory support

The European respiratory journal, 2022-02, Vol.59 (2), p.2102463

2022

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Design of a Rheumatology Transition Clinic for a Resource-Constrained Setting

Indian journal of pediatrics, 2023, Vol.90 (1), p.29-37

2023

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Effectiveness of a 16-month multi-component and environmental school-based intervention for recovery of poor income overweight/obese children and adolescents: study protocol of the health multipliers program

BMC public health, 2017-09, Vol.17 (1), p.708-708, Article 708

2017

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Human parechovirus and enterovirus initiate distinct CNS innate immune responses: Pathogenic and diagnostic implications

Journal of clinical virology, 2017-01, Vol.86, p.39-45

2017

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Association between nailfold capillaroscopy findings and pulmonary function tests in patients with systemic sclerosis

Journal of rheumatology, 2015-02, Vol.42 (2), p.222-227

2015

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Coordinated program between primary care and sleep unit for the management of obstructive sleep apnea

NPJ primary care respiratory medicine, 2019-11, Vol.29 (1), p.39-5, Article 39

2019

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Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium

European journal of medical genetics, 2020-12, Vol.63 (12), p.104093-104093, Article 104093

2020

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Discrepancies in reporting the CAG repeat lengths for Huntington's disease

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.20-26

2012

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Assistance in family health from the perspective of users

Revista latino-americana de enfermagem, 2010-05, Vol.18 (3), p.436-443

2010

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T Cell Numbers Relate to Bone Involvement in Gaucher Disease

Blood cells, molecules, & diseases, 1999-04, Vol.25 (2), p.130-138

1999

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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

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

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

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

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

Restoring the epigenome in Alzheimer's disease: advancing HDAC inhibitors as therapeutic agents

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

Risk factors for mortality in patients with COVID-19 needing extracorporeal respiratory support

Design of a Rheumatology Transition Clinic for a Resource-Constrained Setting

Effectiveness of a 16-month multi-component and environmental school-based intervention for recovery of poor income overweight/obese children and adolescents: study protocol of the health multipliers program

Human parechovirus and enterovirus initiate distinct CNS innate immune responses: Pathogenic and diagnostic implications

Association between nailfold capillaroscopy findings and pulmonary function tests in patients with systemic sclerosis

Coordinated program between primary care and sleep unit for the management of obstructive sleep apnea

Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium

Discrepancies in reporting the CAG repeat lengths for Huntington's disease

Assistance in family health from the perspective of users

T Cell Numbers Relate to Bone Involvement in Gaucher Disease

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