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  • 1-10 ل  13 نتائج ل ""Oligonucleotide Array Sequence Analysis""

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Academic Journal

A customized pigmentation SNP array identifies a novel SNP associated with melanoma predisposition in the SLC45A2 gene.

  • Authors : Ibarrola-Villava M; Servicio de Oncologia Medica y Hematologia, Fundacion Hospital Clinico Universitario-INCLIVA, Valencia, Spain.; Fernandez LP

Subjects: Genetic Predisposition to Disease* ; Oligonucleotide Array Sequence Analysis* ; Polymorphism, Single Nucleotide*

  • Source: PloS one [PLoS One] 2011 Apr 29; Vol. 6 (4), pp. e19271. Date of Electronic Publication: 2011 Apr 29.Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Electronic Cited Medium: Internet

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Academic Journal

Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects.

  • Authors : Pomares E; Departament de Genètica, Institut de Biomedicina, Universitat de Barcelona, Barcelona, Spain.; Riera M

Subjects: Founder Effect* ; Oligonucleotide Array Sequence Analysis*; Leber Congenital Amaurosis/Leber Congenital Amaurosis/Leber Congenital Amaurosis/*diagnosis

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2010 Jan; Vol. 18 (1), pp. 118-24.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Identification of loci associated with susceptibility to Mycobacterium avium subsp. paratuberculosis infection in Holstein cattle using combinations of diagnostic tests and imputed whole-genome sequence data.

  • Authors : Canive M; Department of Animal Health, NEIKER- Basque Research and Technology Alliance (BRTA), Derio, Bizkaia, Spain.; Doctoral Program in Immunology, Microbiology and Parasitology, Universidad del País Vasco/Euskal Herriko Unibertsitatea (UPV/EHU), Leioa, Bizkaia, Spain.

Subjects: Cattle/Cattle/Cattle/*genetics ; Tuberculosis/Tuberculosis/Tuberculosis/*genetics; Animals

  • Source: PloS one [PLoS One] 2021 Aug 27; Vol. 16 (8), pp. e0256091. Date of Electronic Publication: 2021 Aug 27 (Print Publication: 2021).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.

  • Authors : Borobia AM; Clinical Pharmacology Department, IdiPAZ, La Paz University Hospital, School of Medicine, Autonomous University of Madrid, Madrid, Spain.; Dapia I

Subjects: Evidence-Based Medicine/Evidence-Based Medicine/Evidence-Based Medicine/*methods ; Health Plan Implementation/Health Plan Implementation/Health Plan Implementation/*statistics & numerical data ; National Health Programs/National Health Programs/National Health Programs/*statistics & numerical data

  • Source: Clinical and translational science [Clin Transl Sci] 2018 Mar; Vol. 11 (2), pp. 189-199. Date of Electronic Publication: 2017 Nov 28.Publisher: WileyBlackwell Pub Country of Publication: United States NLM ID: 101474067 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders.

  • Authors : Viñas-Jornet M; Genetics lab, UDIAT-centre diagnostic. Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí I3PT. Universitat Autònoma de Barcelona, C/Parc Tauli,1, 08208, Sabadell, Barcelona, Spain.; Cellular Biology, Physiology and Immunology Department, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain.

Subjects: DNA Copy Number Variations*; Intellectual Disability/Intellectual Disability/Intellectual Disability/*epidemiology ; Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics

  • Source: Behavior genetics [Behav Genet] 2018 Jul; Vol. 48 (4), pp. 323-336. Date of Electronic Publication: 2018 Jun 07.Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0251711 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.

  • Authors : Fernandez-San Jose P; Department of Genetics, Health Research Institute Fundacion Jimenez Diaz, University Hospital (IIS-FJD, UAM), Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases CIBERER, ISCIII, Madrid, Spain.

Subjects: Mutation* ; Polymorphism, Single-Stranded Conformational*; Retinitis Pigmentosa/Retinitis Pigmentosa/Retinitis Pigmentosa/*genetics

  • Source: Acta ophthalmologica [Acta Ophthalmol] 2015 Feb; Vol. 93 (1), pp. e38-44. Date of Electronic Publication: 2014 Nov 18.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Copy number variants in a highly inbred Iberian porcine strain.

  • Authors : Fernández AI; Departamento de Mejora Genética Animal, INIA, Ctra. De la Coruña km. 7.5, Madrid, 28040, Spain.; Barragán C

Subjects: DNA Copy Number Variations* ; Polymorphism, Single Nucleotide*; Sus scrofa/Sus scrofa/Sus scrofa/*genetics

  • Source: Animal genetics [Anim Genet] 2014 Jun; Vol. 45 (3), pp. 357-66. Date of Electronic Publication: 2014 Mar 06.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 8605704 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Linkage disequilibrium and inbreeding estimation in Spanish Churra sheep.

Subjects: Inbreeding* ; Linkage Disequilibrium*; Sheep, Domestic/Sheep, Domestic/Sheep, Domestic/*genetics

  • Source: BMC genetics [BMC Genet] 2012 Jun 12; Vol. 13, pp. 43. Date of Electronic Publication: 2012 Jun 12.Publisher: BioMed Central Country of Publication: England NLM ID: 100966978 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2156

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Academic Journal

The C allele of the AGT Met235Thr polymorphism is associated with power sports performance.

Subjects: Athletic Performance* ; Polymorphism, Single Nucleotide*; Angiotensinogen/Angiotensinogen/Angiotensinogen/*genetics

  • Source: Applied physiology, nutrition, and metabolism = Physiologie appliquee, nutrition et metabolisme [Appl Physiol Nutr Metab] 2009 Dec; Vol. 34 (6), pp. 1108-11.Publisher: Canadian Science Publishing Country of Publication: Canada NLM ID: 101264333 Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families.

  • Authors : Barragán I; Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocío, Seville, Spain, and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Seville, Spain.; Abd El-Aziz MM

Subjects: Genetic Linkage*; Chromosomes, Human, Pair 6/Chromosomes, Human, Pair 6/Chromosomes, Human, Pair 6/*genetics ; Oligonucleotide Array Sequence Analysis/Oligonucleotide Array Sequence Analysis/Oligonucleotide Array Sequence Analysis/*methods

  • Source: Annals of human genetics [Ann Hum Genet] 2008 Jul; Vol. 72 (Pt 4), pp. 454-62. Date of Electronic Publication: 2007 May 29.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium: Print ISSN:

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  • 1-10 ل  13 نتائج ل ""Oligonucleotide Array Sequence Analysis""