Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Suzan R. Ismail"'
Autor:
Mohamed S. Abdel-Hamid, Mahmoud Y. Issa, Laila K. Effat, Maha S. Zaki, Lubna M. Desouky, Sherif F. Abdel‐Ghafar, Suzan R. Ismail
Publikováno v:
Clinical Genetics. 98:445-456
Micro and Martsolf syndromes are rare clinically and genetically overlapping disorders caused by mutations in RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20 genes. We describe 34 new patients, 27 with Micro and 7 with Martsolf. Patients presented with the cha
Autor:
Nagwa A. Meguid, Suzan R. Ismail, Nahla A. Nazmy, Heba A Hassan, Mona L. Essawi, Azzah A. Khedr, Amal M. Mohamed
Publikováno v:
Middle East Journal of Medical Genetics. 5:45-53
Publikováno v:
Archives of Oral Biology. 59:722-728
a b s t r a c t Objective: Tooth agenesis is the most common dental anomaly, whose aetiology still remains to be fully elucidated. The aim of this study was to investigate the genetic cause of non-syndromic hypodontia with clinical variability in an
Publikováno v:
Journal of High Institute of Public Health. 35:537-546
As outlined in the Newborn Screening Task Force report published in August 2000, the newborn screening system is more than the just testing, but also involves follow up, diagnosis, treatment, and evaluation. Newborn screening is aimed at early detect
Autor:
Mervat El Belbesy, Samia M. Kotb, Suzan R. Ismail, Amal Moustafa Abd El Aziz, Hassan El-Hosseiny
Publikováno v:
Journal of High Institute of Public Health. 33:195-210
Publikováno v:
American Journal of Medical Genetics. 38:518-522
We report on a 2.5-month-old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases without limb anomalies. Cytog
Autor:
Ehssan E, Baghagho, Ibrahim F, Kharboush, Dalal M, El-Kaffash, Tarek A, KarKour, Suzan R, Ismail, Mona M, Mortada
Publikováno v:
The Journal of the Egyptian Public Health Association. 79(1-2)
Maternal serum alpha fetoprotein (MSAFP) was introduced as a screening test for congenital malformations especially neural tube defects (NTDs) two decades ago. However, many factors were known to affect its level. From these are racial differences an
Autor:
Khedr, Azzah A., Meguid, Nagwa A., Mohamed, Amal M., Ismail, Suzan R., Nazmy, Nahla A., Hassan, Heba A., Essawi, Mona L.
Publikováno v:
Middle East Journal of Medical Genetics; Jul2016, Vol. 5 Issue 2, p45-53, 9p
Autor:
Abdel‐Hamid, Mohamed S., Abdel‐Ghafar, Sherif F., Ismail, Suzan R., Desouky, Lubna M., Issa, Mahmoud Y., Effat, Laila K., Zaki, Maha S.
Publikováno v:
Clinical Genetics; Nov2020, Vol. 98 Issue 5, p445-456, 12p