11
TITLE: Clinico-radiological features of acromegaly-related cutis verticis gyrata
AUTHORS: Roque, Joao; Marques, Pedro;
PUBLISHED: 2022, SOURCE: HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
INDEXED IN: Scopus WOS
12
TITLE: Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases  Full Text
AUTHORS: Costa e Castro, Ana; Maia, Raquel; Batalha, Sara; Freixo, Joao Parente; Martins, Catarina; Neves, Conceicao; Cordeiro, Ana Isabel; Neves, Joao Farela;
PUBLISHED: 2022, SOURCE: FRONTIERS IN IMMUNOLOGY, VOLUME: 13
INDEXED IN: WOS
13
TITLE: Biochemical discrepancies in the evaluation of the somatotroph axis: Elevated GH or IGF-1 levels do not always diagnose acromegaly  Full Text
AUTHORS: Peixe, Carolina; Sanchez Garcia, Miriam; Grossman, Ashley B.; Korbonits, Marta; Marques, Pedro;
PUBLISHED: 2022, SOURCE: GROWTH HORMONE & IGF RESEARCH, VOLUME: 64
INDEXED IN: Scopus WOS
14
TITLE: Acromegaly-related cutis verticis gyrata
AUTHORS: Roque, Joao; Marques, Pedro;
PUBLISHED: 2022, SOURCE: GROWTH HORMONE & IGF RESEARCH, VOLUME: 66
INDEXED IN: Scopus WOS
15
TITLE: Recurrent pyogenic infections caused by a novel Gln1420*mutation in the C3 gene
AUTHORS: Coelho, Pedro Simao; Gouveia, Catarina; Pinto, Marta Valente; Neves, Conceicao; Cordeiro, Ana Isabel; Neves, Joao Farela;
PUBLISHED: 2022, SOURCE: FRONTIERS IN PEDIATRICS, VOLUME: 10
INDEXED IN: Scopus WOS
16
TITLE: Precision medicine: The use of tailored therapy in primary immunodeficiencies  Full Text
AUTHORS: Pinto, Marta Valente; Neves, Joao Farela;
PUBLISHED: 2022, SOURCE: FRONTIERS IN IMMUNOLOGY, VOLUME: 13
INDEXED IN: WOS
17
TITLE: GIANT MULTINODULAR GOITER IN COWDEN SYNDROME  Full Text
AUTHORS: Roque, J.; Marques, P.; Aparicio, D.; Dupont, J.; Reis, D.; Bugalho, M. J.;
PUBLISHED: 2022, SOURCE: ACTA ENDOCRINOLOGICA-BUCHAREST, VOLUME: 18, ISSUE: 3
INDEXED IN: Scopus WOS
18
TITLE: A Novel TRAF3IP2 Mutation Causing Chronic Mucocutaneous Candidiasis  Full Text
AUTHORS: Marujo, F; Pelham, SJ; Freixo, J; Cordeiro, AI; Martins, C; Casanova, JL; Lei, WT; Puel, A; Neves, JF;
PUBLISHED: 2021, SOURCE: JOURNAL OF CLINICAL IMMUNOLOGY
INDEXED IN: Scopus WOS
19
TITLE: Case Report: Primary Immunodeficiencies, Massive EBV plus T-Cell Lympoproliferation Leading to the Diagnosis of ICF2 Syndrome  Full Text
AUTHORS: Padeira, GL; Araujo, C; Cordeiro, AI; Freixo, J; Martins, CG; Neves, JF;
PUBLISHED: 2021, SOURCE: FRONTIERS IN IMMUNOLOGY, VOLUME: 12
INDEXED IN: Scopus WOS
20
TITLE: Osteogenesis imperfecta-related skin features mimicking Cushing's syndrome  Full Text
AUTHORS: Matos, T; Marques, P;
PUBLISHED: 2021, SOURCE: ENDOCRINE
INDEXED IN: Scopus WOS
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