All systems operational
For Researchers For Publishers Login Register
Home Authors Rabah M. Shawky
RS

Rabah M. Shawky

h-7 H-Index
245 Citations
20 Papers

Published Papers

20 indexed
1
Consanguinity and its relevance to clinical genetics
Egyptian Journal of Medical Human Genetics Q2 2013 10.1016/j.ejmhg.2013.01.002
94 citations 391
2
Reduced penetrance in human inherited disease
Egyptian Journal of Medical Human Genetics Q2 2014 10.1016/j.ejmhg.2014.01.003
35 citations 392
3
Thalassemia intermedia: An overview
Egyptian Journal of Medical Human Genetics Q2 2012 10.1016/j.ejmhg.2012.03.006
18 citations 385
4
Study of genotype–phenotype correlation of methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms in a sample of Egyptian autistic children
Egyptian Journal of Medical Human Genetics Q2 2014 10.1016/j.ejmhg.2014.05.004
16 citations 389
5
Treatment options for patients with Gaucher disease
Egyptian Journal of Medical Human Genetics Q2 2016 10.1016/j.ejmhg.2016.02.001
14 citations 388
6
Selective screening in neonates suspected to have inborn errors of metabolism
Egyptian Journal of Medical Human Genetics Q2 2015 10.1016/j.ejmhg.2015.01.003
13 citations 383
7
Genotyping of mannose-binding lectin (MBL2) codon 54 and promoter alleles in Egyptian infants with acute respiratory tract infections
Egyptian Journal of Medical Human Genetics Q2 2014 10.1016/j.ejmhg.2013.10.002
7 citations 385
8
Oral-facial-digital syndrome type II: Transitional type between Mohr and Varadi
Egyptian Journal of Medical Human Genetics Q2 2013 10.1016/j.ejmhg.2013.03.005
6 citations 387
9
Non-deletion mutations in Egyptian patients with Duchenne muscular dystrophy
Egyptian Journal of Medical Human Genetics Q2 2014 10.1016/j.ejmhg.2014.03.004
6 citations 380
10
Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease
Egyptian Journal of Medical Human Genetics Q2 2014 10.1016/j.ejmhg.2014.04.003
6 citations 390
11
The relation between antihistamine medication during early pregnancy & birth defects
Egyptian Journal of Medical Human Genetics Q2 2015 10.1016/j.ejmhg.2015.04.003
5 citations 382
12
Abnormal maternal biomarkers of homocysteine and methionine metabolism and the risk of congenital heart defects
Egyptian Journal of Medical Human Genetics Q2 2018 10.1016/j.ejmhg.2017.08.004
5 citations 388
13
Meier–Gorlin syndrome: An additional Egyptian patient with gastroesophageal reflux, hydronephrosis, renal stones and hypoplastic labia majora and minora with clitromegaly
Egyptian Journal of Medical Human Genetics Q2 2016 10.1016/j.ejmhg.2015.12.006
4 citations 388
14
Intrafamilial variability in Simpson–Golabi–Behmel syndrome with bilateral posterior ear lobule creases
Egyptian Journal of Medical Human Genetics Q2 2014 10.1016/j.ejmhg.2013.08.001
3 citations 388
15
Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndrome
Egyptian Journal of Medical Human Genetics Q2 2014 10.1016/j.ejmhg.2014.03.001
3 citations 385
16
Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: Expanding the clinical spectrum
Egyptian Journal of Medical Human Genetics Q2 2013 10.1016/j.ejmhg.2013.05.005
2 citations 387
17
Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an Egyptian patient with mild Baraitser–Winter syndrome
Egyptian Journal of Medical Human Genetics Q2 2014 10.1016/j.ejmhg.2013.11.001
2 citations 388
18
Oral-facial-digital syndrome with mesoaxial polysyndactyly, common AV canal, hirschsprung disease and sacral dysgenesis: Probably a transitional type between II, VI, variant of type VI or a new type
Egyptian Journal of Medical Human Genetics Q2 2014 10.1016/j.ejmhg.2014.02.004
2 citations 389
19
Berardinelli–Seip syndrome type 2 – An Egyptian child
Egyptian Journal of Medical Human Genetics Q2 2015 10.1016/j.ejmhg.2014.08.004
2 citations 381
20
Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child
Egyptian Journal of Medical Human Genetics Q2 2017 10.1016/j.ejmhg.2015.12.001
2 citations 387

Publication Activity

Journals Published In

Egyptian Journal of Medical Human Genetics
🇪🇬 Q2 AMS 99
Egyptian Journal of Medical Human Genetics
🇪🇬 Q2 AMS 98