Search details
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.
Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.
Am J Med Genet A
; 170(3): 712-6, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26647099
4.
Multiple endocrine neoplasia type 1 familial case in a patient with insulinoma and primary hyperparathyroidism: First report in literature and in the Costa Rican population of the c.1224_1225insGTCC pathogenic variant.
Clin Case Rep
; 11(3): e7041, 2023 Mar.
Article
in English
| MEDLINE | ID: mdl-36911651
5.
Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.
Am J Med Genet A
; 158A(6): 1344-54, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22581468
6.
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
7.
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
8.
Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency.
Brain Dev
; 37(1): 168-70, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-24726568
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