Zobrazeno 1 - 10
of 268
pro vyhledávání: '"E. A. R. Ismail"'
Autor:
Fitriyana, Deni Fajar1 deniifa89@mail.unnes.ac.id, Ismail, Rifky2 r.ismail.undip@gmail.com, Bayuseno, Athanasius Priharyoto3 apbayuseno@lecturer.undip.ac.id, Widodo, Rahmat Doni4 rahmat.doni@mail.unnes.ac.id, Rusiyanto, Rusiyanto4 me_rusiyanto@mail.unnes.ac.id, Anis, Samsudin5 samsudin_anis@mail.unnes.ac.id, Siregar, Januar Parlaungan6 januar@ump.edu.my, Cionita, Tezara7 tezara.cionita@newinti.edu.my
Publikováno v:
Engineering Letters. Oct2024, Vol. 32 Issue 10, p1870-1881. 12p.
Autor:
Whittington, Richard J.1 (AUTHOR) mark.westman@dpi.nsw.gov.au, Grant, Thomas R.2 (AUTHOR) t.grant@unsw.edu.au, McKercher, Jarrad3 (AUTHOR) j.mckercher@ecu.edu.au, Suann, Monica4 (AUTHOR) monica.suann@dpi.nsw.gov.au, Hart, Keith5 (AUTHOR), Handasyde, Kathrine A.6 (AUTHOR), Macgregor, James7,8 (AUTHOR), Westman, Mark E.1,4 (AUTHOR), Connolly, Joanne H.9 (AUTHOR) jconnolly@csu.edu.au
Publikováno v:
Animals (2076-2615). Oct2024, Vol. 14 Issue 19, p2834. 33p.
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
Autor:
Sultana, Monira1 (AUTHOR) drmonira50@gmail.com, Paul, Shyamal Kumar2 (AUTHOR) drshyamal10@yahoo.com, Nasreen, Syeda Anjuman3 (AUTHOR) nasreenm19@gmail.com, Haque, Nazia3 (AUTHOR) drnaziahaque@gmail.com, Hasan, Md. Kamrul4 (AUTHOR) drkh.razib86@gmail.com, Islam, Arup3 (AUTHOR) dr.arup@gmail.com, Nila, Sultana Shabnam3 (AUTHOR) nila1081@gmail.com, Jahan, Afsana5 (AUTHOR) a.j.suravi@gmail.com, Sathi, Fardousi Akter3 (AUTHOR) drsathi.dmc@gmail.com, Hossain, Tasmia3 (AUTHOR) doc.tasmia.hossain@gmail.com, Ferdaus, Syeda Jannatul6 (AUTHOR) jannat33bcs@gmail.com, Aung, Meiji Soe7 (AUTHOR) meijisoeaung@sapmed.ac.jp, Kobayashi, Nobumichi7 (AUTHOR) nkobayas@sapmed.ac.jp
Publikováno v:
Infectious Disease Reports. Aug2024, Vol. 16 Issue 4, p638-649. 12p.
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:
Freitas, Rafael Souza1 (AUTHOR) rafaelfreitasvet@gmail.com, Rocha, Katarine de Souza1 (AUTHOR) helenelouysse@gmail.com, Monteiro, Louysse Helene1 (AUTHOR) thais.andes19@gmail.com, Alexandre, Thais Fernandes1 (AUTHOR) thamillysmonteiro@gmail.com, Monteiro, Thamillys Rayssa Marques1 (AUTHOR) betsyemely@gmail.com, Honorio, Betsy Emely Tavares1 (AUTHOR), Gripp, Mayra Coelho2 (AUTHOR) grippmayra@gmail.com, Guimarães, Claudio Douglas de Oliveira3 (AUTHOR) cdoguimaraes@gmail.com, Palha, Maria das Dores Correia3 (AUTHOR) faunaufra@gmail.com, Gonçalves, Thamirys de Souza4 (AUTHOR) thamirysgoncalves33@gmail.com, Scofield, Alessandra4 (AUTHOR) ascofield@ufpa.br, Moraes, Carla Cristina Guimarães de4 (AUTHOR) ccmoraes@ufpa.br
Publikováno v:
Animals (2076-2615). May2024, Vol. 14 Issue 9, p1334. 13p.
Autor:
Her, Rebecca1,2,3 (AUTHOR), Crespin, Laurent2,3 (AUTHOR), Etougbétché, Jonas4 (AUTHOR), Groud, Karine1 (AUTHOR), Gnolonfoun, Mathias4 (AUTHOR), Chapron, Audrey5 (AUTHOR), Evenamia, Camille4 (AUTHOR), Houéménou, Gualbert4 (AUTHOR), Lurier, Thibaut2,3 (AUTHOR), Cappelle, Julien6 (AUTHOR), Dobigny, Gauthier7,8 (AUTHOR), Ayral, Florence1,5 (AUTHOR) Florence.ayral@vetagro-sup.fr
Publikováno v:
Veterinary Medicine & Science. May2024, Vol. 10 Issue 3, p1-11. 11p.
Autor:
Aymée, Luiza1 (AUTHOR) ju_mendes@id.uff.br, Mendes, Julia1 (AUTHOR), Lilenbaum, Walter1 (AUTHOR) wlilenbaum@id.uff.br
Publikováno v:
Animals (2076-2615). Jan2024, Vol. 14 Issue 2, p322. 12p.
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