about
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformationsAlu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorderBNDF methylation in mothers and newborns is associated with maternal exposure to war trauma.Insights into Sex Chromosome Evolution and Aging from the Genome of a Short-Lived Fish.Molecular cytogenetic evaluation of the efficacy of photodynamic therapy by indocyanine green in breast adenocarcinoma MCF-7 cells.Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypesAn unusual T-cell childhood acute lymphoblastic leukemia harboring a yet unreported near-tetraploid karyotype.Prenatal Maternal Stress Predicts Methylation of Genes Regulating the Hypothalamic-Pituitary-Adrenocortical System in Mothers and Newborns in the Democratic Republic of CongoPosition of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon.Chromosomes in a genome-wise order: evidence for metaphase architecture.Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeatsComplex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilityHuman Ring Chromosomes - New Insights for their Clinical Significance.A high complex karyotype involving eleven chromosomes including three novel chromosomal aberrations and monoallelic loss of TP53 in case of follicular lymphoma transformed into B-cell lymphoblastic leukemia.A unique case of a discontinuous duplication 3q26.1-3q28 resulting from a segregation error of a maternal complex chromosomal rearrangement involving an insertion and an inversion.Evidence for correlation of fragile sites and chromosomal breakpoints in carriers of constitutional balanced chromosomal rearrangements.A complex chromosome rearrangement involving four chromosomes, nine breakpoints and a cryptic 0.6-Mb deletion in a boy with cerebellar hypoplasia and defects in skull ossification.A case of childhood T cell acute lymphoblastic leukemia with a complex t(9;9) and homozygous deletion of CDKN2A gene associated with a Philadelphia-positive minor subclone.Inverted segment size and the presence of recombination hot spot clusters matter in sperm segregation analysis.Effect of Pet Dogs on Children's Perceived Stress and Cortisol Stress Response.Breakpoint characterization: a new approach for segregation analysis of paracentric inversion in human sperm.A rare cryptic and complex rearrangement leading to MLL-MLLT10 gene fusion masked by del(10)(p12) in a child with acute monoblastic leukemia (AML-M5).Children's Relationship With Their Pet Dogs and Genotype Predict Child-Pet Interaction in an Experimental SettingChromosome distribution in human sperm - a 3D multicolor banding-studyAplastic anemia and Klinefelter syndromeChildhood B-cell progenitor acute lymphoblastic leukemia presenting a three-way t(11;12;21)(q14;p13;q22) with a RUNX1 gene signal on chromosome 11Microdeletion and microduplication syndromesA complex karyotype masked a cryptic variant t(8;21)(q22;q22) in a child with acute myeloid leukemiaMolecular cytogenetics studies reveal unexpected chromosomal inversion as variant of t(12;21)(p13;q22) in child with B-cell precursor acute lymphoblastic leukemiaHuman ring chromosomes and small supernumerary marker chromosomes-do they have telomeres?Application of BAC-probes to visualize copy number variants (CNVs)Putting a finger on the problem: Finger stick blood draw and immunization at the well-child exam elicit a cortisol response to stress among one-year-old children
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P50
description
hulumtues
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onderzoeker
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հետազոտող
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name
Samarth Bhatt
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Samarth Bhatt
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Samarth Bhatt
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Samarth Bhatt
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Samarth Bhatt
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Samarth Bhatt
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Samarth Bhatt
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Samarth Bhatt
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Samarth Bhatt
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Samarth Bhatt
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Samarth S. Bhatt
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Samarth Bhatt
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Samarth Bhatt
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Samarth Bhatt
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Samarth Bhatt
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Samarth Bhatt
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