about
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndromeLarge, rare chromosomal deletions associated with severe early-onset obesityGenome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesityRare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.Human SH2B1 mutations are associated with maladaptive behaviors and obesity.Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis.Rare variants in single-minded 1 (SIM1) are associated with severe obesity.Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency.Genomic studies of gene expression: regulation of the Wilson disease gene.Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety.Human SH2B1 mutations are associated withmaladaptive behaviors and obesity.Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.Rare variants in single-minded 1 (SIM1) areassociated with severe obesity.Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis.Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.A mutation in the thyroid hormone receptor alpha gene.Clinical dividends from the molecular genetic diagnosis of craniosynostosis.Clinical dividends from the molecular genetic diagnosis of craniosynostosis.Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy BalanceSteroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasisSimultaneous polychromatic flow cytometric detection of multiple forms of regulated cell death
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description
hulumtuese
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onderzoeker
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researcher
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հետազոտող
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name
Elena G. Bochukova
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Elena G. Bochukova
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Elena G. Bochukova
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Elena G. Bochukova
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Elena G. Bochukova
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Elena G. Bochukova
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Elena G. Bochukova
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Elena G. Bochukova
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Elena G. Bochukova
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Elena G. Bochukova
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Elena Bochukova
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Elena G Bochukova
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Elena G. Bochukova
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Elena G. Bochukova
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Elena G. Bochukova
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Elena G. Bochukova
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Elena G. Bochukova
@sl
P108
P106
P1153
6505858508
P21
P31
P496
0000-0003-0275-1548