Results 111 to 120 of about 5,203 (149)

[Neurodevelopmental and Movement Disorder Due to a Mutation in the GNAO1 Gene: A Case Report]. [PDF]

Rev Neurol
Hernández Yeneris SM, González-Solano MA, Lince-Rivera I, Rojas-Martínez JA, Ramón-Gómez JL.   +4 more
europepmc   +1 more source

Karyotype Description of Two Andean Species of the guarani Group of Drosophila (Díptera: Drosophilidae) and Cytological Notes. [PDF]

J Insect Sci, 2021
Vela D, Villavicencio E.
europepmc   +1 more source

Fertilidade na Síndrome de Turner [PDF]

, 2015
Catarina Ribeiro Costa
core  

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

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

Salud Colect
Linares Terrazas D, Luna Barrón B, Taboada López G.   +2 more
europepmc   +1 more source

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

Biomedica, 2019
Casas-Vargas A, Galvis J, Blanco J, Rengifo L, Usaquén W, Velasco H.   +5 more
europepmc   +1 more source

Thoracic kidney and diaphragmatic hernia: prenatal diagnosis and successful management. Case report and review of the literature [PDF]

Rev Colomb Obstet Ginecol, 2023
Ortega-Mafla MF, Viveros-Gonzalez V, Saldarriaga-Gil W.   +2 more
europepmc   +1 more source

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

Rev Paul Pediatr
Böttcher AK, Siqueira MB, Malgarezi N, Nunes MR, Mergener R, Kalil LP, Trevisan P, Zen PRG.   +7 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