Showing results (81-90 of 169) with videos related to
Sort By:
Pageof 17
Genomics|June 15, 1999
A complete physical contig and partial transcript map of the Williams syndrome critical regionE L Hockenhull, M J Carette, K Metcalfe, et al.Human Molecular Genetics|July 1, 1997
Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosisM Tassabehji, K Metcalfe, D Donnai, et al.Clinical Dysmorphology|April 1, 1992
Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3D Donnai, L J Heather, P Sinclair, et al.Journal of Medical Genetics|December 1, 1987
Multiple pterygium syndrome: evolution of the phenotypeE M Thompson, D Donnai, M Baraitser, et al.Human Molecular Genetics|August 15, 2000
The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicismC Has, L Bruckner-Tuderman, D Müller, et al.American Journal of Medical Genetics|August 1, 1993
True telomeric translocation in a baby with the Prader-Willi phenotypeA Reeve, A Norman, P Sinclair, et al.Journal of Medical Genetics|November 1, 1996
Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivityB Kerr, G S Ashcroft, D Scott, et al.American Journal of Medical Genetics|April 10, 1995
Prenatal diagnosis of Smith-Lemli-Opitz syndromeJ M McGaughran, P T Clayton, K A Mills, et al.Children (Basel, Switzerland)|November 11, 2022
Personalizing Child Protection: The Clinical Value and Usability of a Needs Assessment Instrument in The NetherlandsAnne M E Bijlsma, Mark Assink, Claudia E Van der PutThe Quarterly Journal of Medicine|August 1, 1992
A clinical study of type 2 neurofibromatosisD G Evans, S M Huson, D Donnai, et al.Pageof 17