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2009 SEP 1 ... to the lysosomal compartment. A point mutation in mouse Vps33a (Buff mouse) causes albinism and bleeding (Hermansky-Pudlak syndrome) because of abnormalities in the trafficking of ...
2009 MAR 23 ... NATIONAL NEUROFIBROMATOSIS FOUNDATION
NATIONAL ORGANIZATION FOR ALBINISM AND HYPOPIGMENTATION (NOAH)
NATIONAL ORGANIZATION FOR RARE DISORDERS ...
2009 MAY 25 ... family are involved in skin and hair coloring. When they are mutated, they can cause albinism – the loss of coloring in skin and hair. Produced over abundantly, they are associated ...
2009 APR 27 ... OCA genes and to calculate the birth prevalence in patients with autosomal recessive albinism. Mutation analysis using dHPLC or direct DNA sequencing of TYR, OCA2, TYRP1, and MATP ...
2009 OCT 5 ... and treatment of babies suspected of having a wide range of retinal diseases including albinism and retinal injury. Keywords: Biomedical Engineering, Engineering, ...
2009 MAY 5 ... According to recent research from the United States, "Oculocutaneous albinism type 2 is caused by defects in the gene OCA2, encoding a pigment cell-specific, ...
2009 JUL 20 ... and initiating melanization in wound healing. Mutation or overexpression of PO can cause albinism or melanoma, respectively." "SDS can convert inactive PO and the oxygen ...
2009 SEP 7 ... The solute carrier family members include SLC45A2, which is mutated in oculocutaneous albinism type IV, SLC24A4 and SLC24A5, proteins implicated in the control of eye, hair, and skin ...
2009 AUG 17 ... United States, "HPS is an autosomal recessive disorder characterized by oculocutaneous albinism and prolonged bleeding. Eight human genes are described resulting in the HPS subtypes ...
2009 JUN 16 ... According to recent research from the United States, "Human albinism is a genetic condition associated with visual impairment that affects many aspects of ...
2009 SEP 22 ... According to recent research from San Giovanni Rotondo, Italy, "X-linked ocular albinism type 1 (OA1) is caused by mutations in G protein-coupled receptor 143 (GPR143) gene, ...
2009 JUL 13 ... syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding disorder, and, in some patients, granulomatous colitis and/or a fatal ...
2009 NOV 10 ... has included X-Linked Retinoschisis, Leber Congenital Amaurosis, Retinitis Pigmentosa, Albinism, Achromatopsia, Usher syndrome, Stargardt disease and Mitochondrial disease. Of these, ...
2009 SEP 21 ... According to a study from Reims, France, "Albinism remains a major problem in cereal improvement programs that rely on doubled haploid (DH) ...
2009 JUN 15 ... OA1, including four carriers and a proband with clinical features of X-linked ocular albinism. The proband underwent a detailed ophthalmologic evaluation."
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2009 JUN 1 ... percent of the skin cancers found. Immunosuppression (KS), chronic ulcer, inflammation, albinism, and solar radiation were identified risk factors. Public education strategies on ...
