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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.
[ALFA-1 antitrypsin deficiency, a commonly missed cause of chronic liver disease in theadult: presentation of 9 cases with review of current literature]. / Déficit de Alfa-1 antitripsina, una causa de hepatopatía crónica comúnmente insospechada en el adulto: presentación de 9 casos con revisión de literature.
Rev Gastroenterol Peru
; 39(2): 127-131, 2019.
Article
in Spanish
| MEDLINE | ID: mdl-31333228
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.
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.
Nutrients
; 13(8)2021 Jul 27.
Article
in English
| MEDLINE | ID: mdl-34444728
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
6.
Déficit de Alfa-1 antitripsina, una causa de hepatopatía crónica comúnmente insospechada en el adulto: presentación de 9 casos con revisión de literatura / ALFA-1 antitrypsin deficiency, a commonly missed cause of chronic liver disease in the adult: presentation of 9 cases with review of current literature
Rev. gastroenterol. Perú
; 39(2): 127-131, abr.-jun. 2019. tab
Article
in Spanish
| LILACS | ID: biblio-1058503
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