Reduced penetrance in human inherited disease von Shawky, Rabah M.

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Cantu syndrome in an Egyptian child von Shawky, Rabah M., Gamal, Radwa

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Consanguinity and its relevance to clinical genetics von Shawky, Rabah M., Elsayed, Solaf M., Zaki, Mouchira E., Nour El-Din, Sahar M., Kamal, Ferihan M.

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Congenital malformations prevalent among Egyptian children and associated risk factors von Shawky, Rabah M., Sadik, Doaa I.

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Treatment options for patients with Gaucher disease von Shawky, Rabah M., Elsayed, Solaf M.

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Meier–Gorlin syndrome: An additional Egyptian patient with gastroesophageal reflux, hydronephrosis, renal stones and hypoplastic labia majora and minora with clitromegaly von Shawky, Rabah M., Gamal, Radwa

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Genotyping of PPAR-c gene polymorphism in Egyptian neonates affected with sepsis disease and its severity von Shawqi, Rabah M., al-Nadi, Ghadah H., Rafat, Shayma Muhammad, Kamal, Tariq M.

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C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child von Shawky, Rabah M., Gamal, Radwa

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Christ-Siemens-Touraine syndrome with cleft palate, absent nipples, gallstones and mild mental retardation in an Egyptian child von Shawky, Rabah M., Gamal, Radwa

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Chromosomal study in newborn infants with congenital anomalies in Assiut University hospital: Cross-sectional study von Mohammed, Yasir A., Shawky, Rabah M., Soliman, Amal A.S., Ahmed, Maher M.

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Kabuki make-up syndrome with genitourinary anomalies, ophthalmologic features and hyperpigmentation in an Egyptian child von Shawky, Rabah M., Gamal, Radwa, Mostafa, Nayera

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Study of genotype–phenotype correlation of methylene tetrahydrofolate reductase (MTHFR) gene polymorphisms in a sample of Egyptian autistic children von Shawky, Rabah M., El-baz, Farida, Kamal, Tarek M., Elhossiny, Reham M., Ahmed, Mona A., El Nady, Ghada H.

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Microcephalic osteodysplastic primordial dwarfism (MOPD) type I with severe anemia and MRI brain findings of MOPD type II von Shawky, Rabah M., Gamal, Radwa, Mohammad, Shaimaa Abdelsattar

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Thalassemia intermedia: An overview von Shawky, Rabah M., Kamal, Tarek M.

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Profile of genetic disorders prevalent in northeast region of Cairo, Egypt von Shawky, Rabah M., Elsayed, Nermine S., Ibrahim, Doaa S., Seifeldin, Neveen S.

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Unilateral proximal focal femoral deficiency, fibular aplasia, tibial campomelia and oligosyndactyly in an Egyptian child – Probable FFU syndrome von Shawky, Rabah M., Elkhalek, Heba Salah Abd, Gad, Shaimaa, Mohammad, Shaimaa Abdelsattar

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The relation between antihistamine medication during early pregnancy & birth defects von Shawky, Rabah M., Seifeldin, Neveen S.

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Abnormal maternal biomarkers of homocysteine and methionine metabolism and the risk of congenital heart defects von Shawky, Rabah M., Ramy, Ahmed R.M., El-Din, Sahar M. Nour, Abd Elmonem, Sawsan M., Abd Elmonem, Marwa A.

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Non-deletion mutations in Egyptian patients with Duchenne muscular dystrophy von Shawky, Rabah M., Elsayed, Solaf M., Todorov, Theodor, Zibert, Andree, Alawbathani, Salem, Schmidt, Hartmut H.-J.

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Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease von Shawky, Rabah M., Elabd, Heba Salah Abd-Elkhalek, Gamal, Radwa, Mohammad, Shaimaa Abdelsattar, Gad, Shaimaa

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