Ana Isabel Fernandes Grangeia


AuthID: R-000-K8X

Confirmed Publications: 46



1
TITLE: A Newborn Presenting with Alternating Bradycardia and Tachycardia
AUTHORS: Tiago Magalhães; Marisa Pereira; Renato Santos Silva; Luísa Sampaio; Ana Grangeia ; João Antunes Sarmento ; Ana Vilan;
PUBLISHED: 2025, SOURCE: NeoReviews, VOLUME: 26, ISSUE: 5
INDEXED IN: Scopus CrossRef
2
TITLE: A NOVEL FRAMESHIFT VARIANT IN NADSYN1 GENE ASSOCIATED WITH VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3  Full Text
AUTHORS: Rodrigues, Marisa; Dias, Leonor; Correia Costa, Ana; Grangeia, Ana ; Leao, Miguel;
PUBLISHED: 2025, SOURCE: MEDICINE, VOLUME: 104, ISSUE: 4
INDEXED IN: WOS
3
TITLE: Atypical parkinsonism with dystonia and bulbar dysfunction with a ATP1A3 gene disease-causing variant  Full Text
AUTHORS: Rita Nunes Rato; André Aires Fernandes; Daniela Ferro; Ana Grangeia ; Renata Oliveira; Sara Morais; João Parente Freixo; Jorge Oliveira; Rui Araújo;
PUBLISHED: 2025, SOURCE: Parkinsonism and Related Disorders
INDEXED IN: Scopus CrossRef
4
TITLE: Exploring the phenotypic spectrum of the <i>YARS1</i> p.(Arg367Trp) variant - first European family and literature review
AUTHORS: Fernandes da Rocha, Diogo; Franco, Roberto Mendes; Santos, Vera M. F.; Grangeia, Ana ; Freixo, Joao Parente; Leao, Miguel;
PUBLISHED: 2025, SOURCE: CLINICAL DYSMORPHOLOGY, VOLUME: 34, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
5
TITLE: A case of dystrophic epidermolysis bullosa with a rare COL7A1 variant
AUTHORS: Amoedo, Patricia; Grangeia, Ana ; Peralta, Ligia; Mota, Alberto ;
PUBLISHED: 2024, SOURCE: ANAIS BRASILEIROS DE DERMATOLOGIA, VOLUME: 99, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
6
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
INDEXED IN: Scopus WOS CrossRef: 1
IN MY: ORCID | CIÊNCIAVITAE
7
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
INDEXED IN: WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
8
TITLE: Caso de epidermólise bolhosa distrófica com variante rara do gene COL7A1
AUTHORS: Patrícia Amoedo; Ana Grangeia ; Lígia Peralta; Alberto Mota ;
PUBLISHED: 2024, SOURCE: Anais Brasileiros de Dermatologia (Versão em Português), VOLUME: 99, ISSUE: 3
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
9
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
INDEXED IN: WOS CrossRef
10
TITLE: Impact of recurrent 17q12 microdeletion across three generations: a family with complete penetrance
AUTHORS: Beleza, Ines; Vilan, Ana; Doria, Sofia ; Grangeia, Ana ;
PUBLISHED: 2024, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 32
INDEXED IN: WOS
Page 1 of 5. Total results: 46.

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