About: http://hub.abes.fr/bmj/periodical/jmg/1999/volume_36/issue_6/w

Documentation

scienceplus.abes.fr version Bêta

scienceplus.abes.fr | explorer

À propos de : http://hub.abes.fr/bmj/periodical/jmg/1999/volume_36/issue_6/w Goto Sponge NotDistinct Permalink

Attributs	Valeurs
type	work Issue
Is Part Of	http://hub.abes.fr/bmj/periodical/jmg/1999/volume_36
has manifestation of work	http://hub.abes.fr/bmj/periodical/jmg/1999/volume_36/issue_6/m/print http://hub.abes.fr/bmj/periodical/jmg/1999/volume_36/issue_6/m/web
Date Copyrighted	1999
Rights	Journal of Medical Genetics
issue	6
is Is Part Of of	Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes Prevalence of Prader-Willi and Angelman syndromes among mentally retarded boys in Brazil New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey 45,X/47,XX,+18 constitutional mosaicism: clinical presentation and evidence for a somatic origin of the aneuploid cell lines Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia Smith-Magenis syndrome and tetralogy of Fallot Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome Simultaneous decrease of telomere length and telomerase activity with ageing of human amniotic fluid cells Screening for the fragile X syndrome among the mentally retarded: a clinical study Two sibs with microcephaly, hygroma colli, renal dysplasia, and cutaneous syndactyly: a new lethal MCA syndrome? Complex consanguinity associated with short rib-polydactyly syndrome III and congenital infection-like syndrome: a diagnostic problem in dysmorphic syndromes An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands Chinese geneticists’ views of ethical issues in genetic testing and screening: evidence for eugenics in China Clinical mitochondrial genetics Stable dicentric X chromosomes with two functional centromeres Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata