Zobrazeno 1 - 5
of 5
pro vyhledávání: '"E. A. R. Ismail"'
Publikováno v:
Acta Paediatrica. 88:224-227
A 3.5-y-old boy of Arabic origin had the clinical features of both type 1 and type 2 fucosidosis, consistent with an intermediate form of the disease. The activity of his leucocyte alpha L-fucosidase was absent. He presented with recurrent sinopulmon
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7782f39a8789fb1954d5dc8a2e583c04
https://doi.org/10.1111/j.1651-2227.1999.tb01087.x
https://doi.org/10.1111/j.1651-2227.1999.tb01087.x
Autor:
D. Obenbergerova, Mohamed Sabry, R. L. Al-Naggar, N. A. Al-Torki, Sadika A. Al-Awadi, E. A. R. Ismail, S. Farah, Laila Bastaki
Publikováno v:
Journal of Medical Genetics. 34:736-740
We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligame
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e03ec090b4ec32079be45d45134124e
https://doi.org/10.1136/jmg.34.9.736
https://doi.org/10.1136/jmg.34.9.736
Publikováno v:
American Journal of Medical Genetics. 42:35-38
We report on an Arab boy with Alagille syndrome and a de novo deletion of the short arm of chromosome 20 with a 46,XY, del(20)(p11.2) chromosome constitution. Other reported cases are briefly reviewed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b66424b68f2d215324ba10e7b9b1019
https://doi.org/10.1002/ajmg.1320420109
https://doi.org/10.1002/ajmg.1320420109
Autor:
Y. K. Abdul Al, K I Dudin, P. C. Reavey, A. R. A. Issa, Ahmad S. Teebi, R. Bushnaq, E. A. R. Ismail, Q. A. Al-Saleh, D.S. Manandhar, M.Y. El-Khalifa, M. M. Lubani
Publikováno v:
European Journal of Pediatrics. 149:391-392
Between 1978 and 1988 congenital adrenal hyperplasia (CAH) was diagnosed in 60 children in Kuwait with an estimated prevalence of 1:9,000 livebirths, which is higher than that reported from Europe and Canada. In addition, there was presumptive eviden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::353dfbfdb09945e6c2478fb6107fc83f
https://doi.org/10.1007/bf02009655
https://doi.org/10.1007/bf02009655
Publikováno v:
Journal of Medical Genetics. 35:350-350
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4660670aa837b1ae87d635454c7f2417
https://doi.org/10.1136/jmg.35.4.350
https://doi.org/10.1136/jmg.35.4.350