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Thomas Meitinger

Veröffentlichungen von Thomas Meitinger zu Meitinger, Thomas ->
weitere Veröffentlichungen von Thomas Meitinger:
Widening the view (1997)
Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure (1993)
Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27β (DXS255) (1989)
A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated β-myosin heavy chain genes (1998)
Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins (1992)
A common region of 10p deleted in DiGeorge and velocardiofacial syndromes (1996)
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa (2000)
DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor (1995)
Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome (2001)
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism (1994)
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita (1994)
An L-type calcium-channel gene mutated in incomplete X-linked congenitalstationary night blindness (1998)
Autosomal dominant hypophosphataemic rickets is associated with mutationsin FGF23 (2000)
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodentaldysostosis (2000)
Genome-wide, large-scale production of mutant mice by ENU mutagenesis (2000)
Veröffentlichungen zu Meitinger, Thomas
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1
Meitinger, Thomas Widening the view
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 15, No. 3 (1997), p. 224-225
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1997
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2
Meitinger, Thomas, Meindl, Alfons, ... Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 5, No. 4 (1993), p. 376-380
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1993
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3
Meitinger, Thomas, Fraser, Neil A., ... Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27β (DXS255)
in: Human genetics , ISSN 1432-1203, Vol. 81 (3. 1989), p. 283-286
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1989
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4
Jeschke, Brigitte, Uhl, Kerstin, ... A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated β-myosin heavy chain genes
in: Human genetics , ISSN 1432-1203, Vol. 102 (3. 1998), p. 299-304
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1998
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5
Meindl, Alfons, Berger, Wolfgang, ... Norrie disease is caused by mutations in an extracellular protein resembling C–terminal globular domain of mucins
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 2, No. 2 (1992), p. 139-143
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1992
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6
Daw, Sara C.M., Taylor, Catherine, ... A common region of 10p deleted in DiGeorge and velocardiofacial syndromes
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 13, No. 4 (1996), p. 458-460
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1996
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7
Vervoort, Raf, Lennon, Alan, ... Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 25, No. 4 (2000), p. 462-466
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2000
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8
Schuffenhauer, Simone, Bartsch, Oliver, ... DNA, FISH and complementation studies in ICF syndrome: DNA hypomethylation of repetitive and single copy loci and evidence for a trans acting factor
in: Human genetics , ISSN 1432-1203, Vol. 96 (5. 1995), p. 562-571
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1995
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9
Zimprich, Alexander, Grabowski, Monika, ... Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 29, No. 1 (2001), p. 66-69
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2001
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10
Muscatelli, Françoise, Strom, Tim M., ... Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
in: Nature . - London [u.a.] : Nature Publising Group, ISSN 1476-4687, Vol. 372, No. 6507 (1994), p. 672-676
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1994
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11
Zanaria, Elena, Muscatelli, Françoise, ... An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
in: Nature . - London [u.a.] : Nature Publising Group, ISSN 1476-4687, Vol. 372, No. 6507 (1994), p. 635-641
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1994
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12
Strom, Tim M., Nyakatura, Gerald, ... An L-type calcium-channel gene mutated in incomplete X-linked congenitalstationary night blindness
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 19, No. 3 (1998), p. 260-263
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1998
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13
White, Kenneth E., Evans, Wayne E., ... Autosomal dominant hypophosphataemic rickets is associated with mutationsin FGF23
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 26, No. 3 (2000), p. 345-348
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2000
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14
Ruiz-Perez, Victor L., Ide, Susan E., ... Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodentaldysostosis
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 24, No. 3 (2000), p. 283-286
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2000
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15
de Angelis, Martin Hrabé, Flaswinkel, Heinrich, ... Genome-wide, large-scale production of mutant mice by ENU mutagenesis
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 25, No. 4 (2000), p. 444-447
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2000
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16
Arking, Dan E, Pfeufer, Arne, ... A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 38, No. 6 (2006), p. 644-651
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2006
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17
Winkelmann, Juliane, Schormair, Barbara, ... Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 39, No. 8 (2007), p. 1000-1006
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2007
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18
Binder, Elisabeth B, Salyakina, Daria, ... Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 36, No. 12 (2004), p. 1319-1325
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2004
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19
Ross, Mark T., Grafham, Darren V., ... The DNA sequence of the human X chromosome
in: Nature . - London [u.a.] : Nature Publising Group, ISSN 1476-4687, Vol. 434, No. 7031 (2005), p. 325-337
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2005