about
A systematic approach to mapping recessive disease genes in individuals from outbred populationsVariants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitisG protein-coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growthMutations in SPINT2 cause a syndromic form of congenital sodium diarrheaMutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like diseaseSeverely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator.Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36Phenotypic and genetic heterogeneity in a genome-wide linkage study of asthma familiesSkeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular colobomaCryptogenic multifocal ulcerating stenosing enteritis associated with homozygous deletion mutations in cytosolic phospholipase A2-αMutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 24th Pediatric Allergy and Asthma Meeting (PAAM)Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
P50
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P50
description
hulumtues
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onderzoeker
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researcher
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հետազոտող
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name
Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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Franz Rüschendorf
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