> top > projects > AGAC_test > docs

Documents (1,000) JSON TSV

source DB source ID text # proj. # Ann.
PubMed 15773749 Genetics of laminopathies. Laminopathies are now recognized as a group of disorders due to mutations 11 0 show
PubMed 15773758 Mutations in the mouse Lmna gene causing progeria, muscular dystrophy and cardiomyopathy. At least t 9 0 show
PubMed 15790988 Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype. BACKGROUND: Th 5 0 show
PubMed 15794178 Study of multimodal evoked potentials in patients with type 1 Gaucher's disease. To detect early sub 2 0 show
PubMed 15824798 [Myotonic dystrophy type 1 in cataract patients: molecular diagnosis for screening and genetic couns 3 0 show
PubMed 15833424 A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenita 6 0 show
PubMed 15834242 Fragile X syndrome carrier screening in the prenatal genetic counseling setting. PURPOSE: To documen 2 0 show
PubMed 15835282 Huntington's disease like-2: review and update. Huntington's Disease-like 2 (HDL2), like Huntington' 3 0 show
PubMed 15842522 A case of novel de novo paired box gene 6 (PAX6) mutation with early-onset diabetes mellitus and ani 8 0 show
PubMed 15857086 A novel mutation of the cathepsin C gene in a thai family with Papillon-Lefevre syndrome. BACKGROUND 14 0 show