Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Maurice Super"'
Autor:
L Tranebjaerg, Maurice Super, Dian Donnai, Raoul C.M. Hennekam, Alex Magee, Bronwyn Kerr, Jill Clayton-Smith, J Steen-Johnsen, R F Mueller, Louise Brueton, Han G. Brunner
Publikováno v:
Clinical dysmorphology, 6(4), 291-302. Lippincott Williams and Wilkins
We describe nine children with a similar pattern of features including macrocephaly and cutis marmorata telangiectatica congenita. All were large at birth and had a distinctive capillary haemangioma involving the philtrum and upper lip. The seven who
Publikováno v:
Archives of Disease in Childhood. 80:463-465
Deficiency of 3beta-hydroxy-delta5-C27-steroid dehydrogenase (3beta-HSDH), the enzyme that catalyses the second reaction in the principal pathway for the synthesis of bile acids, has been reported to present with prolonged neonatal jaundice with the
Autor:
Graeme C.M. Black, Jill Clayton-Smith, Simon C Ramsden, Maurice Super, Pamela Watson, Bronwyn Kerr, Margaret Barrow
Publikováno v:
Journal of medical genetics. 38(4)
Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, absent speech, ataxia, sociable affect, and dysmorphic facial features. Eighty five percent of patients with AS have an identifiable genetic abnormali
Autor:
Oliver Quarrell, Martinus F. Niermeijer, Jane A. Hurst, Regina Regan, Sue Malcolm, Robin M. Winter, I D Young, Maurice Super, Susan M. White, Craig A. McKeown, Tessa Homfray, Alison H. Trainer, Jonathan Flint, B. B. A. De Vries, M. Splitt, Samantha J. L. Knight
Publikováno v:
Journal of Medical Genetics, 38, 3, pp. 145--50
Journal of Medical Genetics, 38, 145-150. BMJ Publishing Group
Journal of Medical Genetics, 38, 145--50
Journal of Medical Genetics, 38, 145-150. BMJ Publishing Group
Journal of Medical Genetics, 38, 145--50
BACKGROUND—Submicroscopic subtelomeric chromosome defects have been found in 7.4% of children with moderate to severe mental retardation and in 0.5% of children with mild retardation. Effective clinical preselection is essential because of the tech
Autor:
Maurice Super, R J Postlethwaite
Publikováno v:
Lancet (London, England). 350(9072)