about
A bacterial artificial chromosome library for sequencing the complete human genomeA highly redundant BAC library of Atlantic salmon (Salmo salar): an important tool for salmon projects.Assignment of the L11 ribosomal protein gene (RPL11) to human chromosome 1p36.1-->p35 by in situ hybridizationIdentification of novel splice variants of the human catalytic subunit Cbeta of cAMP-dependent protein kinaseConstruction of bacterial artificial chromosome (BAC/PAC) librariesStructural and functional organization of the gene encoding the human thyrotropin-releasing hormone receptorSpastic paraplegia type 7 is associated with multiple mitochondrial DNA deletionsHaploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.Bacterial artificial chromosome libraries for mouse sequencing and functional analysis.An improved approach for construction of bacterial artificial chromosome libraries.A map of nuclear matrix attachment regions within the breast cancer loss-of-heterozygosity region on human chromosome 16q22.1.A dominant STIM1 mutation causes Stormorken syndrome.Increasing the resolution of the comet assay using fluorescent in situ hybridization--a review.A core MYC gene expression signature is prominent in basal-like breast cancer but only partially overlaps the core serum responseRegulated expression of a transgene introduced on an oriP/EBNA-1 PAC shuttle vector into human cells.Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.Imaging tumor-stroma interactions during chemotherapy reveals contributions of the microenvironment to resistance.A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms.siRNA: a potential tool for future breast cancer therapy?Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development.A de novo 2.3 Mb deletion in 2q24.2q24.3 in a 20-month-old developmentally delayed girl.YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.Global gene expression analysis reveals a link between NDRG1 and vesicle transport.shRNA expression constructs designed directly from siRNA oligonucleotide sequences.A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.A retroviral vector for siRNA expression in mammalian cells.Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.SCA27 caused by a chromosome translocation: further delineation of the phenotype.Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism caused by an inversion disrupting a conserved noncoding element upstream of the NR0B1 (DAX1) gene.Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay.A detailed physical map of a region within human chromosome 16q22.1.A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.A modular, positive selection bacterial artificial chromosome vector with multiple cloning sites.Characterization of the gene encoding the human type II cGMP-dependent protein kinase.The gene cluster containing the LCAT gene is conserved between human and pig.
P50
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P50
description
researcher ORCID ID = 0000-0002-8387-2247
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name
Eirik Frengen
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Eirik Frengen
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Eirik Frengen
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Eirik Frengen
@nl
Eirik Frengen
@pt
type
label
Eirik Frengen
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Eirik Frengen
@en
Eirik Frengen
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Eirik Frengen
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Eirik Frengen
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prefLabel
Eirik Frengen
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Eirik Frengen
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Eirik Frengen
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Eirik Frengen
@nl
Eirik Frengen
@pt
P31
P496
0000-0002-8387-2247