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Open AccessHuman genome meeting 2016
O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder
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Article
Epigenomic alterations define lethal CIMP-positive ependymomas of infancy
Ependymomas are common childhood brain tumours that occur throughout the nervous system, but are most common in the paediatric hindbrain. Current standard therapy comprises surgery and radiation, but not cytot...
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Article
Open AccessDuplication of 7q34 is specific to juvenile pilocytic astrocytomas and a hallmark of cerebellar and optic pathway tumours
Juvenile pilocytic astrocytomas (JPA), a subgroup of low-grade astrocytomas (LGA), are common, heterogeneous and poorly understood subset of brain tumours in children. Chromosomal 7q34 duplication leading to f...
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Article
Reduced in vitro functional activity of human NRAMP1 (SLC11A1) allele that predisposes to increased risk of pediatric tuberculosis disease
Polymorphic variants within the human natural resistance-associated macrophage protein-1 (NRAMP1, also known as SLC11A1) gene have been shown to impact on susceptibility to tuberculosis in different human populat...
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Article
Inhibition of medulloblastoma cell invasion by Slit
Invasion of brain tumor cells has made primary malignant brain neoplasms among the most recalcitrant to therapeutic strategies. We tested whether the secreted protein Slit2, which guides the projection of axon...
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Article
Impact of HLA matching on outcome of hematopoietic stem cell transplantation in children with inherited diseases: a single-center comparative analysis of genoidentical, haploidentical or unrelated donors
Hematological inherited diseases can be cured by hematopoietic stem cell transplantation (HSCT) from an human leukocyte antigen (HLA)-identical sibling donor (MSD), but the outcome of unrelated donors (URD) or...
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Stem cell transplantation for immunodeficiency
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Familial Hemophagocytic Lymphohistiocytosis : occurence of Central Nervous System manifestations and their prevention by Bone Marrow Transplantation 102
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Monoclonal Antibodies to Adhesion Molecules in Bone Marrow and Organ Transplantation
A number of adhesion molecules have been characterized in the recent past. Molecules belonging to three families, i.e. selectins, integrins and members of the immunoglobulin superfamily mediate major events of .....