Egyptian Journal of Medical Human Genetics

Title Publication Date Language Citations
Chromosome 22 microdeletion in children with syndromic congenital heart disease by fluorescent in situ hybridization (FISH)2012/10/01English
Basic concepts of medical genetics2012/06/01English
Editorial Board2012/06/01English
Formal genetic maps2015/04/01English
Editorial Board2014/10/01English
Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient2015/10/01English
Absent abdominal muscles, nephro-urologic abnormalities, and severe neurologic damage in an infant with 3 chromosomal duplications: A novel syndrome?2015/04/01English
Basic concepts of medical genetics, pathogenetics, Part 22013/01/01English
Letter to the editor: Controversial report on sickle cell trait in Manipur, India2013/04/01English
Gene frequency of sickle cell trait among Muslim populations in a Malarial belt of India, i.e., Manipur2013/04/01English
Basic concepts of medical genetics, pathogenetics, part 32013/04/01English
Educational corner of the issue2011/11/01English
Low bone density management via capacitively coupled electrical fields and low intensity pulsed ultrasound in hemiparetic cerebral palsy2011/11/01English
Opitz C syndrome: Trigonocephaly, mental retardation and craniofacial dysmorphism2016/01/01English
Pilot study for early prognosis of Azoospermia in relation to Y-STR Profiling2016/01/01English
Screening of a clinically and biochemically diagnosed SOD patient using exome sequencing: A case report with a mutations/variations analysis approach2016/01/01English
Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome2014/04/01English
Biological evolution: Some genetic considerations2014/01/01English
Challenges in diagnosis and counseling of a family with two recessive neurometabolic disorders2016/07/01English
Editorial Board2016/01/01English
Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease2018/01/01English
Editorial Board2016/04/01English
A novel MYH9 mutation in a beta thalassemia major patient with thrombocytopenia2018/07/01English
Hemochromatosis C282Y gene mutation as a potential susceptibility factor for iron-overload in Egyptian beta-thalassemia patients2018/04/01English
Editorial Board2018/07/01English
Progress in genetics of coronary artery disease2018/01/01English
Impact of cell death pathway genes Fas 21377AA and FasL 2844CC polymorphisms on the risk of developing non-small cell lung cancer2018/07/01English
Editorial Board2016/10/01English
Association analysis of polymorphisms in EGFR , HER2 , ESR1 and THRA genes with coronary artery diseases2017/07/01English
Contribution of coagulation factor VII R353Q polymorphism to the risk of thrombotic disorders development (venous and arterial): A case-control study2017/07/01English