About: http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_3/w

Documentation

scienceplus.abes.fr version Bêta

scienceplus.abes.fr | explorer

À propos de : http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_3/w Goto Sponge NotDistinct Permalink

Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37
has manifestation of work	http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_3/m/web http://hub.abes.fr/bmj/periodical/jmg/2000/volume_37/issue_3/m/print
Date Copyrighted	2000
Rights	Journal of Medical Genetics
issue	3
is Is Part Of of	Mutation analysis in glutaric aciduria type I Why do women attend familial breast cancer clinics? A novel mutation in the CFTR gene correlates with severe clinical phenotype in seven Hispanic patients Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene Age and sex based genetic locus heterogeneity in type 1 diabetes Correlation between mutations and age in cystic fibrosis in a French Canadian population The heritability of high myopia: a reanalysis of Goldschmidt's data Detecting low penetrance genes in cancer: the way ahead Screening British CADASIL families for mutations in theNOTCH3 gene Guidelines for a genetic risk based approach to advising women with a family history of breast cancer No evidence of germline PTEN mutations in familial prostate cancer Butyrylcholinesterase K variant is genetically associated with late onset Alzheimer's disease in Northern Ireland Chromosomal duplication of band 10p14 segregating through four generations Mutation analysis of H19 andNAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome A model protocol evaluating the introduction of genetic assessment for women with a family history of breast cancer Progressive neurological deterioration in a child with distal arthrogryposis and whistling face Somatic mosaicism associated with a mild Alport syndrome phenotype The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata