about
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and HypomyelinationIdentifying autism loci and genes by tracing recent shared ancestryLARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem FailureA cryptic subgroup of Anopheles gambiae is highly susceptible to human malaria parasites.Using whole-exome sequencing to identify inherited causes of autism.Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American populationA 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.Comparative RNA editing in autistic and neurotypical cerebella.Loss of PCLO function underlies pontocerebellar hypoplasia type IIIExpanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.Lack of association of the serotonin transporter polymorphism with the sudden infant death syndrome in the San Diego DatasetAssociation mapping by pooled sequencing identifies TOLL 11 as a protective factor against Plasmodium falciparum in Anopheles gambiaeGenetic Structure of a Local Population of the Anopheles gambiae Complex in Burkina Faso.Finding prostate cancer susceptibility genes.A major genetic locus controlling natural Plasmodium falciparum infection is shared by East and West African Anopheles gambiaeThe kdr-bearing haplotype and susceptibility to Plasmodium falciparum in Anopheles gambiae: genetic correlation and functional testing.Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.Biallelic mutations in human DCC cause developmental split-brain syndrome.Evolution of GOUNDRY, a cryptic subgroup of Anopheles gambiae s.l., and its impact on susceptibility to Plasmodium infection.Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia.No bias in linkage analysis.Genetic loci affecting resistance to human malaria parasites in a West African mosquito vector population.Natural malaria infection in Anopheles gambiae is regulated by a single genomic control region.Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.Ringed sideroblasts in β-thalassemia.Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized miceΛ0Polarization in800−GeV/cpp→pf(Λ0K+)Diffractively Produced Charm Final States in800−GeV/cppCollisions
P50
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P50
description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Kyriacos Markianos
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Kyriacos Markianos
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Kyriacos Markianos
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Kyriacos Markianos
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Kyriacos Markianos
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type
label
Kyriacos Markianos
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Kyriacos Markianos
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Kyriacos Markianos
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Kyriacos Markianos
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Kyriacos Markianos
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Kyriacos Markianos
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Kyriacos Markianos
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Kyriacos Markianos
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Kyriacos Markianos
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Kyriacos Markianos
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P106
P21
P31
P496
0000-0003-0214-6014