ProfileOfResearchers

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TITLE: A novel homozygous deletion in CCDC32 gene causing cardiofacioneurodevelopmental syndrome: the fourth patient reported
AUTHORS: da Rocha, Diogo Fernandes; Quental, Rita; Grangeia, Ana ; Carla Pinto Moura ;
PUBLISHED: 2024, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 33, ISSUE: 3

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TITLE: Acute Encephalopathy in a 10-Year-Old Patient With Maple Syrup Urine Disease: A Challenging Diagnosis
AUTHORS: Miragaia, Pedro; Grangeia, Ana ; Rodrigues, Esmeralda; Sousa, Raquel; Ribeiro, Augusto;
PUBLISHED: 2024, SOURCE: CUREUS JOURNAL OF MEDICAL SCIENCE, VOLUME: 16, ISSUE: 1

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TITLE: COL4A1 and Intraventricular Hemorrhage Full Text
AUTHORS: De Almeida, Laura Leite; Grangeia, Ana ; Sampaio, Luisa; Vilan, Ana;
PUBLISHED: 2024, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 37, ISSUE: 9

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TITLE: Prenatal Diagnosis of Poretti-Boltshauser Syndrome - a Case Report of a Molar Tooth Sign Mimic Full Text
AUTHORS: Pereira Macedo, Miguel; Grangeia, Ana ; Braga, Ana Costa; Rolim, Ricardo; Matias, Alexandra;
PUBLISHED: 2024, SOURCE: CEREBELLUM

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TITLE: Copy number variations on chromosome 2: impact on human phenotype, a cross-sectional study
AUTHORS: Beatriz Sousa; Ana Grangeia ; Joel Pinto; Helena Santos; Sofia Dória ;
PUBLISHED: 2023, SOURCE: Porto Biomedical Journal, VOLUME: 8, ISSUE: 1

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TITLE: Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case Series
AUTHORS: Vilan, Ana ; Grangeia, Ana ; Ribeiro, Jose Mendes; Cilio, Maria Roberta; de Vries, Linda S.;
PUBLISHED: 2023, SOURCE: NEUROPEDIATRICS, VOLUME: 55, ISSUE: 01

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ORCID |

TITLE: Expanding the genetic spectrum of ALKU syndrome: Compound heterozygosity for two deleterious variants in <i>SMG8</i> gene Full Text
AUTHORS: Fernandes, Andre Aires; Grangeia, Ana ; Dias, Leonor; Guimaraes, Joana;
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 191, ISSUE: 8

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ORCID |

TITLE: Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome
AUTHORS: Pereira Nunes, Joana; Vilan, Ana ; Grangeia, Ana ; d'Oliveira, Renata;
PUBLISHED: 2023, SOURCE: JOURNAL OF INVESTIGATIVE MEDICINE HIGH IMPACT CASE REPORTS, VOLUME: 11

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CrossRef: 1

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ORCID |

TITLE: Ocular severe involvement in oculofaciocardiodental syndrome: Description of a case series
AUTHORS: Moleiro, Ana Filipa ; Oliveira, Joana Santos; Grangeia, Ana ; Faria, Pedro; Falcao Reis, Fernando; Magalhaes, Augusto; Silva, Sergio Estrela;
PUBLISHED: 2023, SOURCE: EUROPEAN JOURNAL OF OPHTHALMOLOGY, VOLUME: 34, ISSUE: 1

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ORCID |