Zobrazeno 1 - 3
of 3
pro vyhledávání: '"I A Aligianis"'
Publikováno v:
Genetic counseling (Geneva, Switzerland). 18(4)
The authors describe seven Egyptian patients (5 males and two females) with microcephaly, mild microphthalmia, microcornea, congenital cataracts and hypogenitalism (only in males). These features (after excluding possible non-genetic causes) are cons
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::005af00b97134c98ba8f95ffb752e023
https://pubmed.ncbi.nlm.nih.gov/18286824
https://pubmed.ncbi.nlm.nih.gov/18286824
Autor:
Matthew Ellis, B J Leech, C Hill, K L Greenhalgh, I A Aligianis, G Bromilow, H Cox, Y Stait, P W Lunt
Publikováno v:
Archives of Disease in Childhood. 88:523-524
To draw up recommendations for the investigation and management of children with a microdeletion of chromosome 22q11.A retrospective review of case notes from patients with a chromosome 22q11 microdeletion identified by cytogenetics laboratories of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::617d9a31c8750afd0e4e649e6e3d0e44
https://doi.org/10.1136/adc.88.6.523
https://doi.org/10.1136/adc.88.6.523
Autor:
I. A. Aligianis, P. A. Farndon, S. K. Heath, R. G. F. Gray, Mark D. Kilby, S. Akaboshi, K. M. Gibson
Publikováno v:
Journal of Inherited Metabolic Disease. 25:517-518
Prenatal diagnosis was performed by both DNA and enzymatic analysis on non-identical twins conceived by in vitro fertilization and at risk of succinate semialdehyde dehydrogenase deficiency. One fetus was predicted to be affected and one unaffected a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc8212ade0653ab89a121d3dd594ab62
https://doi.org/10.1023/a:1021215605013
https://doi.org/10.1023/a:1021215605013