R. Shawky

发表

Berardinelli–Seip syndrome type 2 – An Egyptian child

R. Gamal, R. Shawky, N. Seifeldin, 2015 .

Trigonocephaly and Dandy walker variant in an Egyptian child – Probable mild Opitz trigonocephaly C syndrome

R. Shawky, H. S. Abd-Elkhalek, 2012 .

Chromosomal study in newborn infants with congenital anomalies in Assiut University hospital: Cross-sectional study

R. Shawky, Y. A. Mohammed, Amal A. S. Soliman, 2011 .

Holoprosencephaly:a report of 2 cases with different presentations

R. Shawky, D. I. Sadik, 2008 .

Genotyping of mannose-binding lectin (MBL2) codon 54 and promoter alleles in Egyptian infants with acute respiratory tract infections

R. Shawky, S. el-Fattah, T. Kamal, 2014 .

Profile of genetic disorders prevalent in northeast region of Cairo, Egypt

R. Shawky, N. Seifeldin, Nermine S. El-Sayed, 2012 .

Consanguinity and its relevance to clinical genetics

S. Elsayed, R. Shawky, M. Zaki, 2013 .

Intrafamilial variability in Simpson–Golabi–Behmel syndrome with bilateral posterior ear lobule creases

R. Shawky, H. S. Abd-Elkhalek, S. Gad, 2014 .

Peters' plus syndrome in an Egyptian patient with some unusual features

R. Shawky, H. S. Abd-Elkhalek, 2010 .

Genomics in health and disease

R. Shawky, Smn El Din, 2010 .

Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease

S. Mohammad, R. Gamal, R. Shawky, 2014 .

C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child

R. Gamal, R. Shawky, 2017 .

Goldenhar syndrome with skin tags on the chest wall

R. Shawky, S. Zahra, 2011 .

Hereditary periodic fever syndromes

R. Shawky, Nagwa E. A. Gaboon, 2011 .

One gene, many phenotypes

R. Shawky, 2009 .

Outcome of enzyme replacement therapy in children with Gaucher disease: The Egyptian experience

S. Elsayed, R. Shawky, E. Fateen, 2011 .

Clinico-epidemiologic characteristics of spinal muscular atrophy among Egyptians

R. Shawky, Nermine S. El-Sayed, 2011 .

Oral–Facial–Digital Syndrome type VI with self mutilations

S. Mohammad, R. Gamal, R. Shawky, 2014 .

Cardiomyopathy in Vici syndrome

R. Shawky, 2018 .

Cantu syndrome in an Egyptian child

R. Gamal, R. Shawky, 2018, Egyptian Journal of Medical Human Genetics.

Abnormal maternal biomarkers of homocysteine and methionine metabolism and the risk of congenital heart defects

A. Ramy, R. Shawky, S. M. N. El-Din, 2018 .

Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome

S. Elsayed, R. Shawky, H. Amgad, 2016 .

Familial Peters Plus syndrome with absent anal canal, sacral agenesis and sensorineural hearing loss: Expanding the clinical spectrum

S. Elsayed, R. Shawky, H. S. Abd-Elkhalek, 2013 .

Profile of disorders of sexual differentiation in the Northeast region of Cairo, Egypt

R. Shawky, S. M. N. El-Din, 2012 .

Treatment options for patients with Gaucher disease

S. Elsayed, R. Shawky, 2016 .

Thalassemia intermedia: An overview

R. Shawky, T. Kamal, 2012 .

Mitochondrial alterations in children with chronic liver disease

R. Shawky, N. El-Hefnawy, R. Elsherif, 2010 .

Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child

R. Gamal, R. Shawky, 2016 .

Multiple pterygium syndrome with marked pterygia of the fingers and MRI changes in the spine

S. Elsayed, R. Shawky, Nagwa E. A. Gaboon, 2012 .

Reduced penetrance in human inherited disease

R. Shawky, 2014 .

Ellis–van Creveld syndrome with facial dysmorphic features in an Egyptian child

R. Shawky, N. Seifeldin, D. I. Sadik, 2010 .

Trichorhinophalangeal syndrome II, expanding the clinical spectrum

S. Mohammad, R. Shawky, N. Seifeldin, 2015 .

Ocular features in Egyptian genetically disabled children

R. Shawky, S. M. N. El-Din, A. S. el-Din, 2011 .

Consanguineous matings among Egyptian population

S. Elsayed, R. Shawky, M. El-Awady, 2011 .

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome

R. Shawky, N. Seifeldin, Nermine S. El-Sayed, 2012 .

Determination of immunoglobulin E (IgE) and complement III (C3) in children with giardiasis.

R. Shawky, K. El-Hady, M. Salem, 1983, Journal of the Egyptian Society of Parasitology.

Study of genotype–phenotype correlation of methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms in a sample of Egyptian autistic children

R. Shawky, M. A. Ahmed, T. Kamal, 2014 .

Congenital malformations prevalent among Egyptian children and associated risk factors

R. Shawky, D. I. Sadik, 2011 .

Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities

S. Mohammad, R. Shawky, H. S. Abd-Elkhalek, 2013 .

MURCS Association: a Case Report

S. Elsayed, R. Shawky, I. Talaat, 2007 .

Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) in an Egyptian child with premature loss of teeth, and café au lait skin patches

R. Shawky, N. Seifeldin, H. S. Abd-Elkhalek, 2012 .

Selective screening in neonates suspected to have inborn errors of metabolism

R. Shawky, H. S. Abd-Elkhalek, Samah Elyamani Elakhdar, 2015 .

Corpus callosum defect with dilated lateral ventricles and an occipital cyst in an Egyptian child with Diamond-Blackfan anemia

R. Shawky, Nermine S. El-Sayed, 2010 .

Study of Amino Acid Disorders among a High Risk Group of Egyptian Infants and Children

M. Rashad, H. Elsedfy, R. Shawky, 2007 .

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

S. Mohammad, R. Shawky, M. Al-Fahham, 2014 .

Oral-facial-digital syndrome type II: Transitional type between Mohr and Varadi

S. Elsayed, R. Shawky, H. S. Abd-Elkhalek, 2013 .

Triple A syndrome presenting with myopathy: An Egyptian patient

S. Elsayed, H. Elsedfy, R. Shawky, 2009 .

Moebius syndrome with macular hyperpigmentation, skeletal anomalies, and hypoplasia of pectoralis major muscle in an Egyptian child

S. Mohammad, R. Gamal, R. Shawky, 2015 .

Newborn screening in the Middle East and North Africa – challenges and recommendations

R. Shawky, 2012 .

Genotype-Phenotype Correlation among patients with Dystrophinopathies

L. Bastaki, R. Shawky, K. Naguib, 2010 .

Frameshift deletion mechanisms in Egyptian Duchenne and Becker muscular dystrophy families.

R. Shawky, N. Elhawary, N. Hashem, 2004, Molecules and cells.

Non-deletion mutations in Egyptian patients with Duchenne muscular dystrophy

T. Todorov, A. Zibert, H. Schmidt, 2014 .

Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndrome

S. Mohammad, R. Shawky, Shaimaa Gad, 2014 .

Baraitser–Winter syndrome: An additional Egyptian patient with skeletal anomalies, bilateral iris and choroid colobomas, retinal hypoplasia and hypoplastic scrotum

S. Mohammad, R. Gamal, R. Shawky, 2016 .

Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an Egyptian patient with mild Baraitser–Winter syndrome

R. Gamal, R. Shawky, H. S. Elabd, 2014 .

Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families

R. Shawky, N. Elhawary, N. Sayed, 2005, Disease markers.

Maternal risk factors in young Egyptian mothers of Down syndrome

N. Akar, S. Elsayed, E. Elsobky, 2009 .

The relation between antihistamine medication during early pregnancy & birth defects

R. Shawky, N. Seifeldin, 2015 .

Prenatal diagnosis of aneuploidy among a sample of Egyptian high risk pregnancies

E. Zaky, E. Elsobky, R. Shawky, 2009 .

Cardiac and ocular manifestations in Egyptian patients with mucopolysaccharidoses.

R. Shawky, S. M. El-Sayed, A. El-Sebai, 2001, Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit.

Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child

R. Gamal, R. Shawky, Nayera S Mostafa, 2017 .

Molecular diagnosis of spinal muscular atrophy in Egyptians.

R. Shawky, A. Moustafa, M. Rifaat, 2001, Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit.

Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and corneal opacity in a patient with Miller syndrome

R. Shawky, N. Amr, Shaimaa Gad, 2014 .

Genotyping of PPAR-c gene polymorphism in Egyptian neonates affected with sepsis disease and its severity

R. Shawky, T. Kamal, S. Raafat, 2018 .

Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II

S. Mohammad, R. Gamal, R. Shawky, 2017 .

WITHDRAWN: Majewski Osteodysplastic Primordial Dwarfism, Type II with marked loss of subcutaneous fat, severe anemia, clenched hands and skeletal anomalies in an Egyptian patient

S. Mohammad, R. Gamal, R. Shawky, 2017 .

Genotyping of PPAR-γ gene polymorphism in Egyptian neonates affected with sepsis disease and its severity

R. Shawky, T. Kamal, S. Raafat, 2018, Egyptian Journal of Medical Human Genetics.

Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an Egyptian patient

R. Gamal, R. Shawky, N. Seifeldin, 2015 .

Screening for subtle chromosomal rearrangements in an Egyptian sample of children with unexplained mental retardation

E. Zaky, S. Elsayed, E. Elsobky, 2011 .

Genetics of obesity

R. Shawky, D. I. Sadik, 2012 .

Meier–Gorlin syndrome: An additional Egyptian patient with gastroesophageal reflux, hydronephrosis, renal stones and hypoplastic labia majora and minora with clitromegaly

R. Gamal, R. Shawky, 2016 .

Progress in genetics of coronary artery disease

R. Shawky, 2018 .

Syndrome in an Egyptian infant with dilated brain ventricles and heterotopia

R. Shawky, D. I. Sadik, 2009 .

Alphafetoprotein in screening for congenital hypothyroidism.

R. Shawky, M. Rafik, A. Osman, 2001, Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit.