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1.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Article
in English
| MEDLINE | ID: mdl-34186028
2.
Effectiveness of isolation measures with app support to contain COVID-19 epidemics: a parametric approach.
J Math Biol
; 83(5): 46, 2021 10 02.
Article
in English
| MEDLINE | ID: mdl-34599662
3.
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
J Inherit Metab Dis
; 29(4): 546-50, 2006 Aug.
Article
in English
| MEDLINE | ID: mdl-16736096
4.
Newborn screening of homocystinuria: quantitative analysis of total homocyst(e)ine on dried blood spot by liquid chromatography with fluorimetric detection.
J Chromatogr B Analyt Technol Biomed Life Sci
; 785(2): 219-26, 2003 Mar 05.
Article
in English
| MEDLINE | ID: mdl-12554134
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