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The NBN founder mutation—Evidence for a country specific difference in age at cancer manifestation.
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- Cancer Reports, 2023, v. 6, n. 2, p. 1, doi. 10.1002/cnr2.1700
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- Article
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
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- Human Genetics, 2022, v. 141, n. 11, p. 1785, doi. 10.1007/s00439-022-02461-w
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- Article
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger?Huët anomaly).
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- Nature Genetics, 2002, v. 31, n. 4, p. 410, doi. 10.1038/ng925
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- Article
Landscape Democracy and the Implementation of Renewable Energy Facilities.
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- Energies (19961073), 2023, v. 16, n. 13, p. 4997, doi. 10.3390/en16134997
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- Article
The LARGE Principle of Cellular Reprogramming: Lost, Acquired and Retained Gene Expression in Foreskin and Amniotic Fluid-Derived Human iPS Cells.
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- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013703
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- Article
Establishment of a Mouse Model with Misregulated Chromosome Condensation due to Defective Mcph1 Function.
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- PLoS ONE, 2010, v. 5, n. 2, p. 1, doi. 10.1371/journal.pone.0009242
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- Article
A Systematic Proteomic Study of Irradiated DNA Repair Deficient Nbn-Mice.
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- PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005423
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- Article
Obituary: Prof. Dr. med. Dr. h. c. Friedrich Vogel (1925–2006).
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- 2007
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- Obituary
Cancer Risk of Heterozygotes With the NBN Founder Mutation.
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- JNCI: Journal of the National Cancer Institute, 2007, v. 99, n. 24, p. 1875, doi. 10.1093/jnci/djm251
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- Article
SV40 large T-antigen disturbs the formation of nuclear DNA-repair foci containing MRE11.
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- Oncogene, 2002, v. 21, n. 32, p. 4873, doi. 10.1038/sj.onc.1205616
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- Article
District Heating Tariffs, Economic Optimisation and Local Strategies during Radical Technological Change.
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- Energies (19961073), 2020, v. 13, n. 5, p. 1172, doi. 10.3390/en13051172
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- Article
Barriers and Recommendations to Innovative Ownership Models for Wind Power.
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- Energies (19961073), 2018, v. 11, n. 10, p. 2602, doi. 10.3390/en11102602
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- Publication type:
- Article
Image analysis of neutrophil nuclear morphology: Learning about phenotypic range and its reliable analysis from patients with pelger-Huët-anomaly and treated with colchicine.
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- Cytometry. Part B, 2017, v. 92, n. 6, p. 541, doi. 10.1002/cyto.b.21484
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- Article
Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects.
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- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 367, doi. 10.1038/ejhg.2012.198
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- Article
Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 861, doi. 10.1038/sj.ejhg.5200552
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- Article
Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations.
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- European Journal of Human Genetics, 2000, v. 8, n. 11, p. 900, doi. 10.1038/sj.ejhg.5200554
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- Article
Localisation of a Fanconi anaemia gene to chromosome 9p.
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- European Journal of Human Genetics, 1998, v. 6, n. 5, p. 501, doi. 10.1038/sj.ejhg.5200241
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- Article
Population monitoring of trisomy 21: problems and approaches.
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- Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00637-1
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- Article
Der Weg in die Einheit: Das Fach Humangenetik 1990–1991. Ein Erfahrungsbericht.
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- Medizinische Genetik, 2020, p. 275, doi. 10.1515/medgen-2020-2032
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- Article
Der Weg in die Einheit: Das Fach Humangenetik 1990–1991. Ein Erfahrungsbericht.
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- Medizinische Genetik, 2020, p. 275, doi. 10.1515/medgen-2020-2032
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- Article
Die Natur-Kultur-Grenze im Licht des Humangenomprojekts.
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- Medizinische Genetik, 2015, v. 27, n. 1, p. 7, doi. 10.1007/s11825-015-0037-3
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- Article
From proteomics to genomics.
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- Electrophoresis, 2001, v. 22, n. 14, p. 2835, doi. 10.1002/1522-2683(200108)22:14<2835::AID-ELPS2835>3.0.CO;2-3
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- Article
Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia.
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- Carcinogenesis, 2002, v. 23, n. 7, p. 1121, doi. 10.1093/carcin/23.7.1121
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- Article
Molecular analysis of Fanconi anaemia.
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- BioEssays, 1996, v. 18, n. 7, p. 579, doi. 10.1002/bies.950180709
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- Article
Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.
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- Carcinogenesis, 2007, v. 28, n. 1, p. 107, doi. 10.1093/carcin/bgl126
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- Article
Increased risk of gastrointestinal lymphoma in carriers of the 657del5 NBS1 gene mutation.
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- International Journal of Cancer, 2006, v. 119, n. 12, p. 2970, doi. 10.1002/ijc.22280
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- Article
Increased cancer risk of heterozygotes with NBS1 germline mutations in poland.
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- International Journal of Cancer, 2004, v. 111, n. 1, p. 67, doi. 10.1002/ijc.20239
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- Article
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
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- Human Molecular Genetics, 2011, v. 20, n. 13, p. 2585, doi. 10.1093/hmg/ddr158
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- Article
Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.
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- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0364-6
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- Article
Two siblings with immunodeficiency, facialabnormalities and chromosomal instabilitywithout mutation in DNMT3B gene but liabilitytowards malignancy; a new chromatin disorderdelineation?
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- Molecular Cytogenetics (17558166), 2010, v. 3, p. 5, doi. 10.1186/1755-8166-3-5
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- Article
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
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- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167984
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- Article
Some Aspects of Chemical Mutagenesis in Man and in Drosophila.
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- Angewandte Chemie International Edition, 1971, v. 10, n. 5, p. 302, doi. 10.1002/anie.197103021
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- Article
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.
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- Human Mutation, 2010, v. 31, n. 9, p. 1059, doi. 10.1002/humu.21315
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- Article
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.
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- Human Mutation, 2005, v. 26, n. 5, p. 496, doi. 10.1002/humu.9382
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- Article
Ten Years of Sustainable Energy Planning and Management.
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- International Journal of Sustainable Energy Planning & Management, 2024, v. 40, p. 1, doi. 10.54337/ijsepm.8360
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- Article
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation.
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- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-33066-x
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- Article
Mild Nijmegen breakage syndrome phenotype due to alternative splicing.
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- Human Molecular Genetics, 2006, v. 15, n. 5, p. 679, doi. 10.1093/hmg/ddi482
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- Article
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability.
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- Human Molecular Genetics, 2004, v. 13, n. 20, p. 2385, doi. 10.1093/hmg/ddh278
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- Article
Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly.
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- Human Molecular Genetics, 2003, v. 12, n. 1, p. 61, doi. 10.1093/hmg/ddg003
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- Article
DNA methyltransferase 3B mutationslinked to the ICF syndrome cause dysregulation of lymphogenesisgenes.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2917, doi. 10.1093/hmg/10.25.2917
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- Article
Yeast XRS2 and human NBN gene: Experimental evidence for homology using codon optimized cDNA.
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- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0207315
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- Article
5-Methylcytosine-Rich Heterochromatin in the Indian Muntjac.
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- Cytogenetic & Genome Research, 2016, v. 147, n. 4, p. 240, doi. 10.1159/000444431
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- Article
Evidence for an increase in trisomy 21 (Down syndrome) in Europe after the Chernobyl reactor accident.
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- Genetic Epidemiology, 2012, v. 36, n. 1, p. 48, doi. 10.1002/gepi.20662
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- Article
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.
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- Human Mutation, 2003, v. 21, n. 1, p. 98, doi. 10.1002/humu.9098
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- Article
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
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- Human Molecular Genetics, 1999, v. 8, n. 1, p. 69, doi. 10.1093/hmg/8.1.69
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- Article
Recurrent nasal polyps as a monosymptomatic form of cystic fibrosis associated with a novel in-frame deletion (591del18) in the CFTR gene.
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- Human Molecular Genetics, 1995, v. 4, n. 8, p. 1463
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- Publication type:
- Article