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See Latest ArticlesLocus heterogeneity of Dents disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations
Pediatric Nephrology, 07/14/09
Tosetto E et al. - OCRL1 is involved in the functional defects characteristic of Dent’s disease and suggest that patients carrying missense mutations in exons where many Lowe mutations are mapped may represent a phenotypic variant of Lowe syndrome.
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Today in Basic Science/Genetics...keeping you current
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Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI
Diabetes, 11/25/09
Axenfeld-Rieger ocular anomaly and retinoblastoma caused by constitutional chromosome 13q deletion
Pediatric Blood & Cancer, 11/25/09
The development and piloting of the ISPCAN Child Abuse Screening Tool-Parent version (ICAST-P)
Child Abuse and Neglect, 11/24/09
Today in Nephrology/Urology...keeping you current
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Newborn Population Screening for Classic Homocystinuria by Determination of Total Homocysteine from Guthrie Cards
The Journal of Pediatrics, 11/23/09
Hypospadias repair and glans augmentation using a modified Mathieu technique
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