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Stephen W. Scherer

Veröffentlichungen von Stephen W. Scherer zu Scherer, Stephen W ->
weitere Veröffentlichungen von Stephen W. Scherer:
A human Chromosome 7-specific genomic DNA library in yeast artificial chromosomes (1992)
Mapping the midkine family of developmentally regulated signaling molecules (1993)
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly (1996)
Fluorescent in situ mapping of the murine deleted in split hand/ split foot 1 (dss1) gene to Chromosome 6 (1997)
Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis (2007)
A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome (2001)
Detection of large-scale variation in the human genome (2004)
Challenges and standards in integrating surveys of structural variation (2007)
Interleukin-1β-converting enzyme (ICE) and related cell death genes ICErel-II and ICErel-III map to the same PAC clone at band 11q22.2-22.3 (1997)
Physical mapping of the holoprosencephaly critical region on chromosome 7q36 (1993)
The gene mutated in adult-onset type II citrullinaemia encodes a putativemitochondrial carrier protein (1999)
Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing (2000)
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome (2004)
Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kγ (2000)
Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia (2001)
Veröffentlichungen zu Scherer, Stephen W
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1
Scherer, Stephen W., Tompkins, Brock J. F., ... A human Chromosome 7-specific genomic DNA library in yeast artificial chromosomes
in: Mammalian genome , ISSN 1432-1777, Vol. 3 (3. 1992), p. 179-181
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1992
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2
Peichel, Catherine L., Scherer, Stephen W., ... Mapping the midkine family of developmentally regulated signaling molecules
in: Mammalian genome , ISSN 1432-1777, Vol. 4 (11. 1993), p. 632-638
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1993
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3
Roessler, Erich, Belloni, Elena, ... Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 14, No. 3 (1996), p. 357-360
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1996
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4
Crackower, Michael A., Heng, Henny H.Q., ... Fluorescent in situ mapping of the murine deleted in split hand/ split foot 1 (dss1) gene to Chromosome 6
in: Mammalian genome , ISSN 1432-1777, Vol. 8 (9. 1997), p. A704
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1997
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5
Abecasis, Gonçalo, Tam, Paul Kwong-Hang, ... Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysis
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 39, No. 2 (2007), p. 153-155
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2007
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6
Osborne, Lucy R., Li, Martin, ... A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndrome
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 29, No. 3 (2001), p. 321-325
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2001
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7
Iafrate, A John, Feuk, Lars, ... Detection of large-scale variation in the human genome
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 36, No. 9 (2004), p. 949-951
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2004
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8
Scherer, Stephen W, Lee, Charles, ... Challenges and standards in integrating surveys of structural variation
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 39 Suppl 1, No. 7s (2007), p. S7-S15
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2007
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9
Nasir, Jamal, Theilmann, Jane L., ... Interleukin-1β-converting enzyme (ICE) and related cell death genes ICErel-II and ICErel-III map to the same PAC clone at band 11q22.2-22.3
in: Mammalian genome , ISSN 1432-1777, Vol. 8 (8. 1997), p. 611-613
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1997
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10
Gurrieri, Fiorella, Trask, Barbara J., ... Physical mapping of the holoprosencephaly critical region on chromosome 7q36
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 3, No. 3 (1993), p. 247-251
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1993
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11
Kobayashi, Keiko, Sinasac, David S., ... The gene mutated in adult-onset type II citrullinaemia encodes a putativemitochondrial carrier protein
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 22, No. 2 (1999), p. 159-163
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1999
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12
Smith, Annabel N., Skaug, Jennifer, ... Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 26, No. 1 (2000), p. 71-75
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2000
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13
Mnatzakanian, Gevork N, Lohi, Hannes, ... A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 36, No. 4 (2004), p. 339-341
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2004
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14
Sasaki, Takehiko, Irie-Sasaki, Junko, ... Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kγ
in: Nature . - London [u.a.] : Nature Publising Group, ISSN 1476-4687, Vol. 406, No. 6798 (2000), p. 897-902
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2000
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15
Ma, Zhigui, Morris, Stephan W., ... Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 28, No. 3 (2001), p. 220-221
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2001
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16
Sasaki, Takehiko, Irie-Sasaki, Junko, ... corrigendum: Colorectal carcinomas in mice lacking the catalytic subunit of PI(3)Kγ
in: Nature . - London [u.a.] : Nature Publising Group, ISSN 1476-4687, Vol. 426, No. 6966 (2003), p. 584-584
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2003
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17
Minassian, Berge A., Lee, Jeffrey R., ... Mutations in a gene encoding a novel protein tyrosine phosphatase causeprogressive myoclonus epilepsy
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 20, No. 2 (1998), p. 171-174
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1998
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18
Hadano, Shinji, Hand, Collette K., ... A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 29, No. 2 (2001), p. 166-173
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2001
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19
Taylor, Michael D., Liu, Ling, ... Mutations in SUFU predispose to medulloblastoma
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 31, No. 3 (2002), p. 306-310
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2002
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20
Chan, Elayne M, Young, Edwin J, ... Mutations in NHLRC1 cause progressive myoclonus epilepsy
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 35, No. 2 (2003), p. 125-127
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2003