Pedro Louro
AuthID: R-00K-SPD
1
TITLE: National newborn screening for sickle cell disease and communication of carrier status
AUTHORS: Diogo Fernandes da Rocha; Laura Vilarinho; Pedro Louro;
PUBLISHED: 2023, SOURCE: Revista Portuguesa de Clínica Geral, VOLUME: 39, ISSUE: 1
AUTHORS: Diogo Fernandes da Rocha; Laura Vilarinho; Pedro Louro;
PUBLISHED: 2023, SOURCE: Revista Portuguesa de Clínica Geral, VOLUME: 39, ISSUE: 1
2
TITLE: Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
AUTHORS: Francesca Peluso; Stefano G Caraffi; Gianluca Contrò; Lara Valeri; Manuela Napoli; Giorgia Carboni; Alka Seth; Roberta Zuntini; Emanuele Coccia; Guja Astrea; Anne-Marie Bisgaard; Ivan Ivanovski; Silvia Maitz; Elise Brischoux-Boucher; Melissa T Carter; Maria Lisa Dentici; Koenraad Devriendt; Melissa Bellini; Maria Cristina Digilio; Asif Doja; ...More
PUBLISHED: 2023, SOURCE: Journal of Medical Genetics, VOLUME: 60, ISSUE: 12
AUTHORS: Francesca Peluso; Stefano G Caraffi; Gianluca Contrò; Lara Valeri; Manuela Napoli; Giorgia Carboni; Alka Seth; Roberta Zuntini; Emanuele Coccia; Guja Astrea; Anne-Marie Bisgaard; Ivan Ivanovski; Silvia Maitz; Elise Brischoux-Boucher; Melissa T Carter; Maria Lisa Dentici; Koenraad Devriendt; Melissa Bellini; Maria Cristina Digilio; Asif Doja; ...More
PUBLISHED: 2023, SOURCE: Journal of Medical Genetics, VOLUME: 60, ISSUE: 12
3
TITLE: Diagnosis, follow up and clinical management of individuals identified with a TP53 pathogenic variant
AUTHORS: Sofia Fernandes; Sofia Fragoso; Bruno Filipe; Sidonia Santos; Teresa Duarte; Sandra Bento; Beatriz Mira; Ana Luis; Isalia Miguel; Cecilia Moura; Jose Marques; Isabel Claro; Ines Carvalho; Pedro Louro; Joana Parreira; Paula Rodrigues; Fatima Vaz;
PUBLISHED: 2022, SOURCE: Medical Research Archives, VOLUME: 10, ISSUE: 7
AUTHORS: Sofia Fernandes; Sofia Fragoso; Bruno Filipe; Sidonia Santos; Teresa Duarte; Sandra Bento; Beatriz Mira; Ana Luis; Isalia Miguel; Cecilia Moura; Jose Marques; Isabel Claro; Ines Carvalho; Pedro Louro; Joana Parreira; Paula Rodrigues; Fatima Vaz;
PUBLISHED: 2022, SOURCE: Medical Research Archives, VOLUME: 10, ISSUE: 7
4
TITLE: ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome
AUTHORS: Zain Awamleh; Sanaa Choufani; Cheryl Cytrynbaum; Fowzan S Alkuraya; Stephen Scherer; Sofia Fernandes; Catarina Rosas; Pedro Louro; Patricia Dias; Mariana Tomásio Neves; Sérgio B Sousa; Rosanna Weksberg;
PUBLISHED: 2022, SOURCE: Human Molecular Genetics, VOLUME: 32, ISSUE: 9
AUTHORS: Zain Awamleh; Sanaa Choufani; Cheryl Cytrynbaum; Fowzan S Alkuraya; Stephen Scherer; Sofia Fernandes; Catarina Rosas; Pedro Louro; Patricia Dias; Mariana Tomásio Neves; Sérgio B Sousa; Rosanna Weksberg;
PUBLISHED: 2022, SOURCE: Human Molecular Genetics, VOLUME: 32, ISSUE: 9
