Results 71 to 80 of about 835 (101)

[Inequalities in time to diagnosis of Down Syndrome in Bolivia]. [PDF]

open access: yesSalud Colect
Linares Terrazas D   +2 more
europepmc   +1 more source

Male patient 46,XX SRY-negative and unambiguous genitalia: A case report [PDF]

open access: yesBiomedica, 2019
Casas-Vargas A   +5 more
europepmc   +1 more source

First report of hypoplastic left heart syndrome in 3p- syndrome and review of candidate genes. [PDF]

open access: yesRev Paul Pediatr
Böttcher AK   +7 more
europepmc   +1 more source

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

open access: yesRev Paul Pediatr
Brum A   +3 more
europepmc   +1 more source

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

open access: yesEpidemiol Serv Saude
Carvalho EA   +10 more
europepmc   +1 more source

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

open access: yesRev Paul Pediatr
Simão SCM   +5 more
europepmc   +1 more source

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

open access: yesEinstein (Sao Paulo), 2020
Araújo HV   +11 more
europepmc   +1 more source

An integrated approach for rare disease detection and classification in Spanish pediatric medical reports. [PDF]

open access: yesSci Rep
Duque A   +5 more
europepmc   +1 more source

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