31
TITLE: Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused by Virulent Granulibacter bethesdensis  Full Text
AUTHORS: Mafalda Rebelo; Li Ding; Ana Isabel Cordeiro; Conceicao Neves; Maria Joao Simoes; Adrian M Zelazny; Steven M Holland; Joao Farela Neves;
PUBLISHED: 2019, SOURCE: EMERGING INFECTIOUS DISEASES, VOLUME: 25, ISSUE: 5
INDEXED IN: WOS
32
TITLE: Novel IL2RG Mutation Causes Leaky (TB+NK+)-B-LOW SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation
AUTHORS: Joao F Neves; Catarina Martins; Ana I Cordeiro; Conceicao Neves; Vicent Plagnol; James Curtis; Monique Fabre; Shahnaz Bibi; Luis M Borrego; Despina Moshous; Sergey Nejentsev; Kimberly Gilmour;
PUBLISHED: 2019, SOURCE: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, VOLUME: 41, ISSUE: 4
INDEXED IN: WOS
34
TITLE: Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease
AUTHORS: Joao Farela Neves; Isabel Afonso; Luis Borrego; Catarina Martins; Ana Isabel Cordeiro; Conceicao Neves; Caroline Lacoste; Catherine Badens; Alexandre Fabre;
PUBLISHED: 2018, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 61, ISSUE: 4
INDEXED IN: WOS
35
TITLE: Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa  Full Text
AUTHORS: Joao Farela Neves; Rainer Doffinger; Gabriela Barcena Morales; Catarina Martins; Olivier Papapietro; Vincent Plagnol; James Curtis; Marta Martins; Dinakantha Kumararatne; Ana Isabel Cordeiro; Conceicao Neves; Luis Miguel Borrego; Matilda Katan; Sergey Nejentsev;
PUBLISHED: 2018, SOURCE: FRONTIERS IN IMMUNOLOGY, VOLUME: 9
INDEXED IN: Scopus WOS
36
TITLE: Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea  Full Text
AUTHORS: Britt Sabina Petersen; Dietrich August; Renate Abt; Moudjahed Alddafari; Lida Atarod; Safa Baris; Hemant Bhavsar; Florian Brinkert; Mary Buchta; Alla Bulashevska; Ronnie Chee; Ana I Cordeiro; Naghi Dara; Gregor Duckers; Aisha Elmarsafy; Natalie Frede; Nermeen Galal; Patrick Gerner; Erik Oliver Glocker; Sigune Goldacker; Jutta Hammermann; Peter Hasselblatt; Zuzana Havlicekova; Katrin Hubscher; Milos Jesenak; Neslihan E Karaca; Elif Karakoc Aydiner; Mahboubeh M Kharaghani; Sara S Kilic; Ayca Kiykim; Christoph Klein; Christian Klemann; Robin Kobbe; Daniel Kotlarz; Martin W Laass; Ronan R Leahy; Mehrnaz Mesdaghi; Sally Mitton; Joao F Neves; Birol Ozturk; Luis F Pereira; Jan Rohr; Jessica L R Restrepo; Gunda Ruzaike; Nadia Saleh; Suranjith Seneviratne; Ebru Senol; Carsten Speckmann; Daniel Tegtmeyer; Paul Thankam; Jutte Van der Werff ten Bosch; Horst von Bernuth; Sebastian Zeissig; Yvonne Zeissig; Andre Franke; Bodo Grimbacher; ...More
PUBLISHED: 2017, SOURCE: INFLAMMATORY BOWEL DISEASES, VOLUME: 23, ISSUE: 12
INDEXED IN: WOS
37
TITLE: Diplopia, Convergent Strabismus, and Eye Abduction Palsy in a 12-Year-Old Boy with Autoimmune Thyroiditis  Full Text
AUTHORS: Pedro Marques; Sandra Jacinto; Maria do Carmo Pinto; Catarina Limbert; Lurdes Lopes;
PUBLISHED: 2016, SOURCE: CASE REPORTS IN PEDIATRICS, VOLUME: 2016
INDEXED IN: WOS CrossRef
38
TITLE: Male infertility in haematological malignancies survivors submitted to allogeneic bone marrow transplant: clinical relevance and diagnostic-therapeutical challenges
AUTHORS: Pedro Marques; Carmo Martins; Joana Simoes Pereira; Margarida da Silva Vieira; Daniel Macedo; Maria Joao Bugalho; Conceicao Pereira;
PUBLISHED: 2016, SOURCE: REVISTA PORTUGUESA DE ENDOCRINOLOGIA DIABETES E METABOLISMO, VOLUME: 11, ISSUE: 2
INDEXED IN: WOS
39
TITLE: Clinico-biochemical characteristics of 229 Portuguese infertile women with polycystic ovary syndrome: clinical relevance and relationship with fertility treatment results
AUTHORS: Marques, P; Ferreira, F; Soares, AP; Nunes, J; Sousa, S; Aguiar, A; Calhaz Jorge, C;
PUBLISHED: 2016, SOURCE: CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY, VOLUME: 43, ISSUE: 6
INDEXED IN: WOS
40
TITLE: Hemophagocytic lymphohistiocytosis secondary to Falciparum malaria in a 5 year-old boy  Full Text
AUTHORS: Joana Almeida Santos; Joao Farela Neves; Paulo Venancio; Catarina Gouveia; Luis Varandas;
PUBLISHED: 2015, SOURCE: ANNALS OF HEMATOLOGY, VOLUME: 94, ISSUE: 1
INDEXED IN: WOS CrossRef
Page 4 of 5. Total results: 49.