Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Soha F. Kholeif"'
Autor:
Mahmoud R. Fassad, Asmaa K. Amin, Heba A. Morsy, Noha M. Issa, Nader H. Bayoumi, Sahar A. El Shafei, Soha F. Kholeif
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 18, Iss 3, Pp 219-224 (2017)
Purpose: Primary congenital glaucoma (PCG) accounts for 26–29% of childhood blindness in Egypt. The identification of disease causing mutations has not been extensively investigated. We aimed to examine the frequency of CYP1B1 and MYOC mutations in
Externí odkaz:
https://doaj.org/article/54e8037177874d37823dad8d3512df30
Autor:
Ghada Mohamed Elhady, Hanan Mahrous, Soha F. Kholeif, Emad El Din Khalifa, Dalia Mostafa Nayel
Publikováno v:
The Application of Clinical Genetics
Dalia Mostafa Nayel,1 Hanan Salah El Din Mahrous,1 Emad El Din Khalifa,2 Soha Kholeif,1 Ghada Mohamed Elhady1 1Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt; 2Department of Obstetrics and Gynecolog
Autor:
Asmaa K. Amin, Heba Morsy, Soha F. Kholeif, Mahmoud R. Fassad, Noha M. Issa, Sahar A. El Shafei, Nader Hussein Lotfy Bayoumi
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 18, Iss 3, Pp 219-224 (2017)
Egyptian Journal of Medical Human Genetics; Vol 18, No 3 (2017); 219-224
Egyptian Journal of Medical Human Genetics; Vol 18, No 3 (2017); 219-224
Purpose Primary congenital glaucoma (PCG) accounts for 26–29% of childhood blindness in Egypt. The identification of disease causing mutations has not been extensively investigated. We aimed to examine the frequency of CYP1B1 and MYOC mutations in
Publikováno v:
Journal of Human Reproductive Sciences, Vol 13, Iss 4, Pp 340-348 (2020)
Journal of Human Reproductive Sciences
Journal of Human Reproductive Sciences
Background: Recurrent pregnancy loss (RPL) is a major reproductive health issue, affecting 2%–5% of couples. Genetic factors, mainly chromosomal abnormalities, are the most common cause of early miscarriage accounting for 50%–60% of first trimest
Publikováno v:
The Egyptian Journal of Otolaryngology. 31:42-46
The aim of this study was to detect 35delG and 167delT mutations in the connexin 26 gene among Egyptian patients with nonsyndromic sensorineural hearing loss, allowing accurate diagnosis, proper genetic counseling, and carrier detection. Fifty-one pa
Publikováno v:
The Turkish Journal of Pediatrics. 61:780
Nazmy N, Elhady G, Refaat E, Kholeif S. Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome. Turk J Pediatr 2019; 61: 780-785. We report the clinical and genetic characterization of 2 cousins sharing the
Publikováno v:
Laboratory Medicine. 44:254-257
We report a unique karyotype of 44,XY,der(13;14)(q10;q10)×2 detected in a phenotypically normal man married to a consanguineous healthy woman. The couple had a history of 3 second-trimester intrauterine fetal deaths (IUFDs) that involved multiple co
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
Publikováno v:
Laboratory Medicine; Summer2013, Vol. 44 Issue 3, p254-257, 4p, 2 Charts