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1
Genetic variation and covariation for characteristics associated with cadmium tolerance in natural populations of the springtail Orchesella cincta (L.)
Genetic variation and covariation for characteristics associated with cadmium tolerance in natural populations of the springtail Orchesella cincta (L.)
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Genetic variation and covariation for characteristics associated with cadmium tolerance in natural populations of the springtail Orchesella cincta (L.)

Posthuma, L. (National Institute of Public Health and Environmental Protection, Bilthoven, The Netherlands) ; Hogervorst, R.F ; Joosse, E.N ; Straalen, N.M

Evolution, 1993-04, Vol.47 (2), p.619-631 [Periódico revisado por pares]

Malden, MA: Society for the Study of Evolution

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2
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases
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A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

Verheijen, Frans W ; Verbeek, Elly ; Aula, Nina ; Beerens, Cecile E.M.T ; Havelaar, Adrie C ; Joosse, Marijke ; Peltonen, Leena ; Aula, Pertti ; Galjaard, Hans ; van der Spek, Peter J ; Mancini, Grazia M.S

Nature genetics, 1999-12, Vol.23 (4), p.462-465 [Periódico revisado por pares]

London: Nature Publishing Group

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3
Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction
Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction
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Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction

Heus, H C ; Luijsterburg, A J ; van Baren, M J ; Breedveld, G J ; Joosse, M N ; Nieuwenhuizen, I M ; Vermeij-Keers, C ; Oostra, B A ; Heutink, P

Mammalian genome, 2001-01, Vol.12 (1), p.77-79 [Periódico revisado por pares]

United States: Springer Nature B.V

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4
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis
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A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

Njajou, Omer T ; Vaessen, Norbert ; Joosse, Marijke ; Berghuis, Bianca ; van Dongen, Jeroen W.F ; Breuning, Martijn H ; Snijders, Pieter J.L.M ; Rutten, Wim P.F ; Sandkuijl, Lodewijk A ; Oostra, Ben A ; van Duijn, Cornelia M ; Heutink, Peter

Nature genetics, 2001-07, Vol.28 (3), p.213-214 [Periódico revisado por pares]

London: Nature Publishing Group

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5
Hereditary Vascular Retinopathy, Cerebroretinal Vasculopathy, and Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke Map to a Single Locus on Chromosome 3p21.1-p21.3
Hereditary Vascular Retinopathy, Cerebroretinal Vasculopathy, and Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke Map to a Single Locus on Chromosome 3p21.1-p21.3
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Hereditary Vascular Retinopathy, Cerebroretinal Vasculopathy, and Hereditary Endotheliopathy with Retinopathy, Nephropathy, and Stroke Map to a Single Locus on Chromosome 3p21.1-p21.3

Ophoff, Roel A. ; DeYoung, Joseph ; Service, Susan K. ; Joosse, Marijke ; Caffo, Nathan A. ; Sandkuijl, Lodewijk A. ; Terwindt, Gisela M. ; Haan, Joost ; van den Maagdenberg, Arn M.J.M. ; Jen, Joanna ; Baloh, Robert W. ; Barilla-LaBarca, Maria-Louise ; Saccone, Nancy L. ; Atkinson, John P. ; Ferrari, Michel D. ; Freimer, Nelson B. ; Frants, Rune R.

American journal of human genetics, 2001-08, Vol.69 (2), p.447-453 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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6
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease
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A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease

BERTOLI AVELLA, A. M ; MARCHECO TERUEL, B ; LLIBRE RODRIGUEZ, J. J ; GOMEZ VIERA, N ; BORRAJERO MARTINEZ, I ; SEVERIJNEN, E. A ; JOOSSE, M ; VAN DUIJN, C. M ; HEREDERO BAUTE, L ; HEUTINK, P

Neurogenetics, 2002-10, Vol.4 (2), p.97-104 [Periódico revisado por pares]

Berlin: Springer

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7
ESR1 gene amplification in breast cancer: a common phenomenon?
ESR1 gene amplification in breast cancer: a common phenomenon?
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ESR1 gene amplification in breast cancer: a common phenomenon?

van de Vijver, Marc J ; Horlings, Hugo M ; Bergamaschi, Anna ; Nordgard, Silje H ; Kim, Young H ; Han, Wonshik ; Noh, Dong-Young ; Salari, Keyan ; Joosse, Simon A ; Reyal, Fabien ; Lingjaerde, Ole Christian ; Kristensen, Vessela N ; Børresen-Dale, Anne-Lise ; Pollack, Jonathan

Nature genetics, 2008-07, Vol.40 (7), p.807-808 [Periódico revisado por pares]

United States

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8
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket : a multi-modal approach
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket : a multi-modal approach
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Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket : a multi-modal approach

TISCHKOWITZ, Marc ; HAMEL, Nancy ; GRIST, Scott A ; FAB, Kcon ; NEDERLOF, Petra M ; GOLDGAR, David E ; TAVTIGIAN, Sean V ; MONTEIRO, Alvaro N ; LADIAS, John A. A ; FOULKES, William D ; CARVALHO, Marcelo A ; BIRRANE, Gabriel ; SONI, Aditi ; VAN BEERS, Erik H ; JOOSSE, Simon A ; WONG, Nora ; NOVAK, David ; QUENNEVILLE, Louise A

European journal of human genetics : EJHG, 2008-07, Vol.16 (7), p.820-832 [Periódico revisado por pares]

Avenel, NJ: Nature Publishing

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9
Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality
Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality
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Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality

van den Ouweland, Ans M W ; Dinjens, Winand N M ; Dorssers, Lambert C J ; van Veghel-Plandsoen, Monique M ; Brüggenwirth, Hennie T ; Withagen-Hermans, Caroline J ; Collée, Johanna Margriet ; Joosse, Simon A ; Terlouw-Kromosoeto, Joan N R ; Nederlof, Petra M

Genetic testing and molecular biomarkers, 2009-06, Vol.13 (3), p.399-406 [Periódico revisado por pares]

United States: Mary Ann Liebert, Inc

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