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

European Endocrinology, 2020-03, Vol.16 (1), p.66-68

2020

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Craniofrontonasal syndrome: case report

Nascer e crescer, 2014-03, Vol.23 (suppl 1), p.16-16

2014

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Síndrome de Noonan: revisão da casuística do Centro de Genética Médica Dr. Jacinto de Magalhães - CHP

Nascer e crescer, 2014-11, Vol.23 (suppl 3), p.11-11

2014

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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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Translocação (X;10) aparentemente equilibrada de novo no sexo feminino: caso clínico

Nascer e crescer, 2014-03, Vol.23 (suppl 1), p.16-16

2014

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MX-linked centronuclear myopathy: from clinical diagnosis to genetic counseling

Nascer e crescer, 2014-03, Vol.23 (suppl 1), p.18-18

2014

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Distal XQ27->Q28 duplication and functional disomy: clinical and cytogenetic characterization

Nascer e crescer, 2014-03, Vol.23 (suppl 1), p.21-21

2014

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Respuesta de los autores

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

2008

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Determinación de la concentración de óxido nítrico alveolar en aire espirado: procedimiento y valores de referencia en personas sanas

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

2009

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Efectividad de la reacción en cadena de la polimerasa en tiempo real (PCR-RT) e Inmunodot en el diagnóstico temprano de leptospirosis: análisis comparativo con la prueba de Microaglutinación (MAT)

Ciencia y Salud (Santo Domingo. En línea), 2022-02, Vol.6 (1), p.17-24

2022

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Aplicação de uma técnica inovadora de FISH na investigação do atraso mental idiopático

Arquivos de Medicina, 2006-02, Vol.20 (1-2), p.19-24

2006

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Diagnóstico pré-natal de Síndrome de Smith-Lemli-Opitz

Arquivos de Medicina, 2005-01, Vol.19 (1-2), p.23-27

2005

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Effect of obstructive sleep apnoea and its treatment with continuous positive airway pressure on the prevalence of cardiovascular events in patients with acute coronary syndrome (ISAACC study): a randomised controlled trial

The lancet respiratory medicine, 2020-04, Vol.8 (4), p.359-367

2020

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The Coherence of the European Union Marine Natura 2000 Network for Wide-Ranging Charismatic Species: A Mediterranean Case Study

Frontiers in Marine Science, 2018-10, Vol.5

2018

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Taxonomic revision of Rhynchosia Lour. (Leguminosae, Papilionoideae, Phaseoleae) in South America

Phytotaxa, 2024-04, Vol.643 (1), p.1-67

2024

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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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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

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

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

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

Genomic imbalances defining novel intellectual disability associated loci

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

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

Craniofrontonasal syndrome: case report

Síndrome de Noonan: revisão da casuística do Centro de Genética Médica Dr. Jacinto de Magalhães - CHP

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

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

Translocação (X;10) aparentemente equilibrada de novo no sexo feminino: caso clínico

MX-linked centronuclear myopathy: from clinical diagnosis to genetic counseling

Distal XQ27->Q28 duplication and functional disomy: clinical and cytogenetic characterization

Respuesta de los autores

Determinación de la concentración de óxido nítrico alveolar en aire espirado: procedimiento y valores de referencia en personas sanas

Efectividad de la reacción en cadena de la polimerasa en tiempo real (PCR-RT) e Inmunodot en el diagnóstico temprano de leptospirosis: análisis comparativo con la prueba de Microaglutinación (MAT)

Aplicação de uma técnica inovadora de FISH na investigação do atraso mental idiopático

Diagnóstico pré-natal de Síndrome de Smith-Lemli-Opitz

Effect of obstructive sleep apnoea and its treatment with continuous positive airway pressure on the prevalence of cardiovascular events in patients with acute coronary syndrome (ISAACC study): a randomised controlled trial

The Coherence of the European Union Marine Natura 2000 Network for Wide-Ranging Charismatic Species: A Mediterranean Case Study

Taxonomic revision of Rhynchosia Lour. (Leguminosae, Papilionoideae, Phaseoleae) in South America

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

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