31
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
32
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
33
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
34
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
35
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
36
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
37
TITLE: Transient diabetes insipidus in pregnancy
AUTHORS: Pedro Marques; Kavinga Gunawardana; Ashley Grossman;
PUBLISHED: 2015, SOURCE: ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS
INDEXED IN: WOS CrossRef
38
TITLE: Ipilimumab-Induced Autoimmune Hypophysitis: Diagnostic and Management Challenges Illustrated by a Clinical Case  Full Text
AUTHORS: Pedro Marques; Ashley Grossman;
PUBLISHED: 2015, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 28, ISSUE: 6
INDEXED IN: WOS
39
TITLE: Hypothyroidism Associated to TSH Hormone-Receptor Autoantibodies with Blocking Activity Assessed In Vitro  Full Text
AUTHORS: Pedro Marques; Karim Chikh; Anne Charrie; Rosa Pina; Maria Joao Bugalho; Lurdes Lopes;
PUBLISHED: 2015, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 28, ISSUE: 5
INDEXED IN: WOS
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