anuarioHDE
GERMLINE ABL1 VARIANT IDENTIFIED IN A NEPALESE GIRL WITH CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME: A CASE REPORT
Mafalda Melo1, Tiago Rito2, Isabel Freitas2, Jorge Pinto-Basto3, Teresa Kay1, Diana Antunes1
GENETICS OF ATTENTION DEFICIT HYPERACTIVITY DISORDER
Diana Branco Vieira1
GENETIC MODULATORS OF FETAL HEMOGLOBINA EXPRESSION AND ISCHEMIC STROKE OCCURENCE IN AFRICAN DESCENDENTE CHILDREN WITH SICKLE CELL ANEMIA
Marta Nicolau1, Sofia Vargas1, Marisa Silva1, Andreia Coelho1, Emanuel Ferreira1, Joana Mendonça1, Luís Vieira1,2, Paula Kjöllerström3, Raquel Maia3, Rita Silva4, Alexandra Dias5, Teresa Ferreira5, Anabela Morais6, Isabel Mota Soares7, João Lavinha1,8, Paula Faustino9,10,11
FUSOBACTERIUM NECROPHORUM: UM AGENTE A CONSIDERAR NO DIAGNÓSTICO DE MENINGITE BACTERIANA
Ana Pereira Lemos1, Tiago Silva1, Herédio Sousa2, Flora Candeias1, Maria João Brito1
FEVER IN A PATIENT WHO COMES FROM ANGOLA
Gabriela Reis1, Tiago Silva2, Maria João Brito2
FATAL MENINGITIS IN PATIENT WITH X-LINKED CHRONIC GRANULOMATOUS DISEASE CAUSED BY VIRULENT GRANULIBACTER BETHESDENSIS
Mafalda Rebelo1, Li Ding2, Ana Isabel Cordeiro1, Conceição Neves1, Maria João Simões3, Adrian M. Zelazny2, Steven M. Holland2, João Farela Neves1,4
FATAL CENTRAL NERVOUS SYSTEM LYMPHOCYTIC VASCULITIS AFTER TREATMENT FOR BURKITT LYMPHOMA IN A PATIENT WITH A SH2D1A MUTATION
João Farela Neves1,2, Lamberto Torralba Raga3, Samuel C. Chiang3, Bianca Tesi4,5, José Pedro Vieira6, Ana Isabel Cordeiro1, Luis Borrego2,7, Yenan T. Bryceson3
FANCONI SYNDROME AFTER IFOSFAMIDE EXPOSURE -CASE REPORT
Sónia M. Gomes1, Ana M. Garcia1, Telma Francisco1, Gilda Teixeira2, Maria J. Ribeiro3, Ana P. Serrão1
Factores associados à não inclusão escolar de crianças com paralisia cerebral em Portugal.
Ana João Santos, Teresa Folha, Daniel Virella.
EXOME SEQUENCING AS A DIAGNOSTIC TOOL IN A CASE OF UNDIAGNOSED MAN1B1-CDG
Mafalda Melo1, Ana Moreira2, Ana Martins2, Conceição Trigo3, Basto J4, Ana Ferreira5, Diana Antunes1