Results 131 to 140 of about 3,131 (193)

PURA syndrome in a child with severe developmental delay: a challenging diagnosis. [PDF]

Rev Neurol, 2022
Nogueira M, Melo C, Grangeia A, Magalhães T, Soares C, Dias R, Fonseca J, Sampaio M, Sousa R.   +8 more
europepmc   +1 more source

Jacobsen syndrome associated with Shone's complex: a case report. [PDF]

Rev Paul Pediatr
Brum A, Laskoski LV, Matos FGOA, d'Arce LPG.   +3 more
europepmc   +1 more source

Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021. [PDF]

Epidemiol Serv Saude
Carvalho EA, Hopker RDC, Pedroso GH, Almeida LS, Pacher JAT, Antônio ALM, Souza J, Zeny MS, Santos MLSF, Valle DAD, Andrade FA.   +10 more
europepmc   +1 more source

Spatio-Temporal Image Correlation: Three-Dimensional Imaging for Fetal Cardiac Screening and Congenital Heart Disease Assessment. [PDF]

Arq Bras Cardiol
Malho A, Ximenes RS, Bravo-Valenzuela NJ, Araujo Júnior E.   +3 more
europepmc   +1 more source

Myelodysplastic syndrome: validation of flow cytometry multilineage score system. [PDF]

Einstein (Sao Paulo), 2020
Araújo HV, Correia RP, Bento LC, Vaz ADC, Sousa FA, Alexandre AM, Schimidell D, Pedro EC, Ioshida MR, Barroso RS, Bacal NS, Bacal NS.   +11 more
europepmc   +1 more source

Bilateral ulnar longitudinal deficiency with oligodactyly in newborn. [PDF]

Rev Paul Pediatr
Simão SCM, Silva JAPD, Miranda AO, Costa RS, Ferreira CSM, Saito RY.   +5 more
europepmc   +1 more source

[Rare diseases in a medical genetics service of population with social security]. [PDF]

Rev Med Inst Mex Seguro Soc
Jiménez-Pérez B, Juárez-Melchor D, Guzmán-Santiago AA, Sánchez-Ortega A, Vera-Loaiza A, Flores-Martínez C, Aguilar-Cózatl I.   +6 more
europepmc   +1 more source

Metabolic dysfunction-associated liver disease and biliary lithiasis in children with Down Syndrome: a retrospective study. [PDF]

Rev Paul Pediatr
Nisihara R, Fuga NH, Maia L, Mansur MG, Liberatti F, Rossasi M, Oliveira N.   +6 more
europepmc   +1 more source