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1.
Rubinstein-Taybi syndrome in diverse populations.
Am J Med Genet A
; 182(12): 2939-2950, 2020 12.
Article
in English
| MEDLINE | ID: mdl-32985117
2.
Williams-Beuren syndrome in diverse populations.
Am J Med Genet A
; 176(5): 1128-1136, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29681090
3.
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.
J Thromb Haemost
; 20(7): 1712-1719, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35325493
4.
[Clinical profile of patients with chronic urticaria in a tertiary care hospital of the social security system in Costa Ricas]. / Perfil clínico de los pacientes con urticaria crónica en un hospital de tercer nivel de atención del sistema de seguridad social de Costa Rica.
Rev Alerg Mex
; 68(4): 225-232, 2021.
Article
in Spanish
| MEDLINE | ID: mdl-34904558
5.
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization.
JIMD Rep
; 52(1): 55-62, 2020 Mar.
Article
in English
| MEDLINE | ID: mdl-32154060
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