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Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qterHuman CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS).Ancient human genome sequence of an extinct Palaeo-EskimoChromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase geneThe human hedgehog-interacting protein gene: structure and chromosome mapping to 4q31.21-->q31.3Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationJARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cellsA functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardationIsolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disordersHaploinsufficiency of TAB2 causes congenital heart defects in humansDisruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationBreakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern EuropeansDistinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)Identification of the BRD1 interaction network and its impact on mental disorder riskA Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing ImpairmentPsoriasis upregulated phorbolin-1 shares structural but not functional similarity to the mRNA-editing protein apobec-1Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisationDeletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control regionA novel subtype of distal symphalangism affecting only the 4th fingerMutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disordersAssignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding proteinAssignment of the human gene for Oct-binding factor-1 (OBF1), a B-cell-specific coactivator of octamer-binding transcription factors 1 and 2, to 11q23.1 by somatic cell hybridization and in situ hybridizationExclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpointAssignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12ARubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBPThe genetic basis of the Pierre Robin SequencePierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2Identification and characterization of an inner ear-expressed human melanoma inhibitory activity (MIA)-like gene (MIAL) with a frequent polymorphism that abolishes translationSequence and expression analysis of gaps in human chromosome 20A human phenome-interactome network of protein complexes implicated in genetic disordersSingle-molecule denaturation mapping of DNA in nanofluidic channels.A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.Phenotypic subregions within the split-hand/foot malformation 1 locus.Structural genomic variation in childhood epilepsies with complex phenotypesDissecting spatio-temporal protein networks driving human heart development and related disorders.REST-mediated recruitment of polycomb repressor complexes in mammalian cells.Mutational analysis of the human FATE gene in 144 infertile men.Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS
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P50
description
dansk professor i genetik
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geneticus
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hulumtues
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researcher
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հետազոտող
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name
Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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type
label
Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
@en
Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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prefLabel
Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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Niels Tommerup
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P101
P1053
T-8776-2017
P106
P1960
2o7SnG8AAAAJ
P2038
Niels_Tommerup
P21
P31
P3829
P496
0000-0003-2304-0112
P569
2000-01-01T00:00:00Z