[Inequalities in time to diagnosis of Down Syndrome in Bolivia]. [PDF]
Linares Terrazas D +2 more
europepmc +1 more source
Male patient 46,XX SRY-negative and unambiguous genitalia: A case report [PDF]
Casas-Vargas A +5 more
europepmc +1 more source
Thoracic kidney and diaphragmatic hernia: prenatal diagnosis and successful management. Case report and review of the literature [PDF]
Ortega-Mafla MF +2 more
europepmc +1 more source
First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes. [PDF]
Böttcher AK +7 more
europepmc +1 more source
Jacobsen syndrome associated with Shone's complex: a case report. [PDF]
Brum A +3 more
europepmc +1 more source
Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021. [PDF]
Carvalho EA +10 more
europepmc +1 more source
Spatio-Temporal Image Correlation: Three-Dimensional Imaging for Fetal Cardiac Screening and Congenital Heart Disease Assessment. [PDF]
Malho A +3 more
europepmc +1 more source
Bilateral ulnar longitudinal deficiency with oligodactyly in newborn. [PDF]
Simão SCM +5 more
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Myelodysplastic syndrome: validation of flow cytometry multilineage score system. [PDF]
Araújo HV +11 more
europepmc +1 more source
An integrated approach for rare disease detection and classification in Spanish pediatric medical reports. [PDF]
Duque A +5 more
europepmc +1 more source

