Pedro Louro


AuthID: R-00K-SPD

Confirmed Publications: 19



11
TITLE: Cancer challenges: common pathogenic ATM variants  Full Text
AUTHORS: Pedro Louro ; Patricia Machado; Ana Clara; Ana Luis; Isalia Miguel; Sandra Bento; Sidonia Santos; Sofia Fragoso; Fatima Rodrigues; Irina Coelho; Joana Parreira; Paula Rodrigues; Fatima Vaz;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
12
TITLE: Wiedemann-Steiner Syndrome - clinical and molecular characterization of 9 patients from four national hospital centers  Full Text
AUTHORS: Sofia Fernandes; Mariana Soeiro E Sa; Ines Carvalho; Marcia Rodrigues; Renata Oliveira; Pedro Louro ; Joaquim Sa; Patricia Dias; Jorge M Saraiva; Sergio B Sousa; Celia Soares; Gabriela Soares;
PUBLISHED: 2019, SOURCE: 22nd Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 98, ISSUE: 26
INDEXED IN: WOS
13
TITLE: Woodhouse-Sakati Syndrome: First report of a Portuguese case  Full Text
AUTHORS: Louro, P ; Duraes, J; Oliveira, D; Paiva, S; Ramos, L; Macario, MC;
PUBLISHED: 2019, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 179, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 7
IN MY: ORCID
14
TITLE: Occipital Horn Syndrome Case Report: Multidisciplinary Approach of a Rare Entity  Full Text
AUTHORS: Mafalda Mendes-Pinto; Carolina Figueira; Ester Pereira; Margarida Henriques; Pedro Louro ; Paula Gouveia; Ricardo Veiga; Paula Garcia;
PUBLISHED: 2018, SOURCE: Journal of Medical Cases, VOLUME: 9, ISSUE: 7
INDEXED IN: CrossRef
IN MY: ORCID
15
TITLE: Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals
AUTHORS: Kharbanda, M; Pilz, DT; Tomkins, S; Chandler, K; Saggar, A; Fryer, A; McKay, V; Louro, P ; Smith, JC; Burn, J; Kini, U; De Burca, A; FitzPatrick, DR; Kinning, E;
PUBLISHED: 2017, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 60, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 35
IN MY: ORCID
16
TITLE: Endocrine manifestations of Woodhouse-Sakati Syndrome - a Portuguese case
AUTHORS: Diana Oliveira; Sandra Paiva; Pedro Louro ; Carmo C Macario; Joao Duraes; Diana Martins; Mara Ventura; Adriana Lages; Nelson Cunha; Francisco Carrilho;
PUBLISHED: 2017, SOURCE: Endocrine Abstracts
INDEXED IN: CrossRef
IN MY: ORCID
17
TITLE: Phenotyping GABA transaminase deficiency: a case description and literature review  Full Text
AUTHORS: Pedro Louro ; Lina Ramos; Conceicao Robalo; Candida Cancelinha; Alexandra Dinis; Ricardo Veiga; Raquel Pina; Olinda Rebelo; Ana Pop; Luisa Diogo; Gajja S Salomons; Paula Garcia;
PUBLISHED: 2016, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
18
TITLE: Further delineation of the KBG syndrome caused by ANKRD11 aberrations (vol 23, pg 1176, 2015)  Full Text
AUTHORS: Ockeloen, CW; Willemsen, MH; de Munnik, S; van Bon, BWM; de Leeuw, N; Verrips, A; Kant, SG; Jones, EA; Brunner, HG; van Loon, RLE; Smeets, EEJ; van Haelst, MM; van Haaften, G; Nordgren, A; Malmgren, H; Grigelioniene, G; Vermeer, S; Louro, P ; Ramos, L; Maal, TJJ; van Heumen, CC; Yntema, HG; Carels, CEL; Kleefstra, T; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 9
INDEXED IN: WOS CrossRef: 12
IN MY: ORCID
19
TITLE: Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
AUTHORS: Charlotte W Ockeloen; Marjolein H Willemsen; Sonja de Munnik; Bregje W M van Bon; Nicole de Leeuw; Aad Verrips; Sarina G Kant; Elizabeth A Jones; Han G Brunner; Rosa L E van Loon; Eric E J Smeets; Mieke M van Haelst; Gijs van Haaften; Ann Nordgren; Helena Malmgren; Giedre Grigelioniene; Sascha Vermeer; Pedro Louro ; Lina Ramos; Thomas J J Maal; Celeste C van Heumen; Helger G Yntema; Carine E L Carels; Tjitske Kleefstra; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
Page 2 of 2. Total results: 19.

footer slogan

Useful Links

Get Help

© 2024 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service