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Richard C Trembath

Veröffentlichungen von Richard C Trembath zu Trembath, Richard C. ->
weitere Veröffentlichungen von Richard C Trembath:
Heterozygous germline mutations in BMPR2, encoding a TGF-βreceptor, cause familial primary pulmonary hypertension (2000)
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy (2000)
Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci (2001)
Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron (2006)
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron (2006)
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome (2004)
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus (2006)
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat (2006)
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome (2005)
Veröffentlichungen zu Trembath, Richard C.
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1
 , The International PPH Consortium*, Lane, Kirk B., ... Heterozygous germline mutations in BMPR2, encoding a TGF-βreceptor, cause familial primary pulmonary hypertension
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 26, No. 1 (2000), p. 81-84
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2000
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2
Shackleton, Sue, Lloyd, David J., ... LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 24, No. 2 (2000), p. 153-156
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2000
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3
Cookson, William O.C.M., Ubhi, Baljinder, ... Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 27, No. 4 (2001), p. 372-373
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2001
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4
Morgan, Neil V, Westaway, Shawn K, ... Corrigendum: PLA2G6, encoding a phospholipase A<inf>2</inf>, is mutated in neurodegenerative disorders with high brain iron
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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5
Morgan, Neil V, Westaway, Shawn K, ... PLA2G6, encoding a phospholipase A<inf>2</inf>, is mutated in neurodegenerative disorders with high brain iron
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 38, No. 7 (2006), p. 752-754
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2006
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6
Gissen, Paul, Johnson, Colin A, ... Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 36, No. 4 (2004), p. 400-404
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2004
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7
Tarpey, Patrick, Thomas, Shery, ... Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 38, No. 11 (2006), p. 1242-1244
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2006
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8
Smith, Ursula M, Consugar, Mark, ... The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 38, No. 2 (2006), p. 191-196
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2006
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9
Aligianis, Irene A, Johnson, Colin A, ... Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 37, No. 3 (2005), p. 221-224
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2005