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Johanna M. Rommens

Veröffentlichungen von Johanna M. Rommens zu Rommens, Johanna ->
weitere Veröffentlichungen von Johanna M. Rommens:
The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene (1993)
The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR (1993)
Identification of sequences of chromosome 7 that are expressed in sweat gland epithelial cells (1990)
Mutations in SBDS are associated with Shwachman–Diamond syndrome (2003)
Multi-ion pore behaviour in the CFTR chloride channel (1993)
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome (1997)
Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease (1993)
BRCA2 germline mutations in male breast cancer cases and breast cancer families (1996)
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy (1998)
Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1 (1997)
Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type (2006)
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type (2006)
A candidate prostate cancer susceptibility gene at chromosome 17p (2001)
Veröffentlichungen zu Rommens, Johanna
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1
Bull, Peter C., Thomas, Gordon R., ... The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 5, No. 4 (1993), p. 327-337
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1993
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2
Li, Canhui, Ramjeesingh, Mohabir, ... The cystic fibrosis mutation (ΔF508) does not influence the chloride channel activity of CFTR
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 3, No. 4 (1993), p. 311-316
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1993
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3
Burns, Julie, Melmer, Georg, ... Identification of sequences of chromosome 7 that are expressed in sweat gland epithelial cells
in: Human genetics , ISSN 1432-1203, Vol. 85 (2. 1990), p. 151-156
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1990
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4
Underhill, D. Alan, Vogan, Kyle J., ... Transcription mapping and expression analysis of candidate genes in the vicinity of the mouse Loop-tail mutation
in: Mammalian genome , ISSN 1432-1777, Vol. 11 (8. 2000), p. 633-638
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2000
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5
Boocock, Graeme R.B., Morrison, Jodi A., ... Mutations in SBDS are associated with Shwachman–Diamond syndrome
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 33, No. 1 (2003), p. 97-101
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2003
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6
Tabcharani, Joseph A., Rommens, Johanna M., ... Multi-ion pore behaviour in the CFTR chloride channel
in: Nature . - London [u.a.] : Nature Publising Group, ISSN 1476-4687, Vol. 366, No. 6450 (1993), p. 79-82
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1993
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7
Matsuura, Toshinobu, Sutcliffe, James S., ... De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 15, No. 1 (1997), p. 74-77
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1997
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8
Wallis, Deeann E., Roessler, Erich, ... Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 22, No. 2 (1999), p. 196-198
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1999
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9
Goldberg, Y. Paul, Rommens, Johanna M., ... Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease
in: Nature . - London [u.a.] : Nature Publising Group, ISSN 1476-4687, Vol. 362, No. 6418 (1993), p. 370-373
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1993
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10
Couch, Fergus J., Farid, Linda M., ... BRCA2 germline mutations in male breast cancer cases and breast cancer families
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 13, No. 1 (1996), p. 123-125
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1996
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11
Citron, Martin, Westaway, David, ... Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid β-protein in both transfected cells and transgenic mice
in: Nature medicine . - New York, NY : Nature America Inc., ISSN 1546-170X, Vol. 3, No. 1 (1997), p. 67-72
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1997
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12
Lafreniére, Ronald G., Rochefort, Daniel L., ... Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 15, No. 3 (1997), p. 298-302
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1997
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13
Brais, Bernard, Bouchard, Jean-Pierre, ... Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 18, No. 2 (1998), p. 164-167
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1998
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14
Lerner-Ellis, Jordan P, Tirone, Jamie C, ... Erratum: Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 38, No. 8 (2006), p. 957-957
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2006
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15
Lerner-Ellis, Jordan P, Tirone, Jamie C, ... Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 38, No. 1 (2006), p. 93-100
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2006
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16
Tavtigian, Sean V., Simard, Jacques, ... A candidate prostate cancer susceptibility gene at chromosome 17p
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 27, No. 2 (2001), p. 172-180
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2001