نتایج جستجو برای: griscelli syndrome

تعداد نتایج: 621919  

2013
Nilhan Rajiva de Silva Sepali Gunawardena Damayanthi Rathnayake Geethani Devika Wickramasingha

BACKGROUND While primary immunodeficiencies (PID has been recognized in the west for decades, recognition has been delayed in the third world. This study attempts to detail the spectrum of PID, the therapy provided, and constraints in the diagnosis and treatment in a middle income country such as Sri Lanka. METHODS Nine hundred and forty two patients with recurrent infections and features sug...

2008
Zhou Gang

In this paper we consider generalized nonlinear Schrödinger equations with external potentials. we compute the forth and the sixed order Fermi Golden Rules (FGR), conjectured in [GS2, GS3], which is used in a study of the asymptotic dynamics of trapped solitons.

2001
Philippe Bahadoran Edith Aberdam Frédéric Mantoux Roser Buscà Karine Bille Nevin Yalman Geneviève de Saint-Basile Ricardo Casaroli-Marano Robert Ballotti

Normal pigmentation depends on the uniform distribution of melanin-containing vesicles, the melanosomes, in the epidermis. Griscelli syndrome (GS) is a rare autosomal recessive disease, characterized by an immune deficiency and a partial albinism that has been ascribed to an abnormal melanosome distribution. GS maps to 15q21 and was first associated with mutations in the myosin-V gene. However,...

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