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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 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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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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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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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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An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy

Neurological sciences, 2023-09, Vol.44 (9), p.3303-3305

2023

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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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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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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

2017

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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

2017

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Determinación de óxido nítrico en aire espirado (FE NO) mediante un equipo portátil (NIOX-MINO ® Aerocrine) en población sana

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

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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Craniofrontonasal syndrome: case report

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

2014

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The clinical and neurocognitive features of Digeorge syndrome patients of Centro de Genética Médica Doutor Jacinto Magalhães

Nascer e crescer, 2016-12, Vol.25 (suppl 1), p.20-20

2016

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

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)

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

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

An SPG7 mutation as a novel cause of monogenic progressive muscular atrophy

Predicting factors of neurodevelopmental performance in children with phenylketonuria

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

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

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

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

Determinación de óxido nítrico en aire espirado (FE NO) mediante un equipo portátil (NIOX-MINO ® Aerocrine) en población sana

The contribution of 7q33 copy number variations for intellectual disability

Craniofrontonasal syndrome: case report

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

The clinical and neurocognitive features of Digeorge syndrome patients of Centro de Genética Médica Doutor Jacinto Magalhães

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

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