Search Results - "Shawky, R"

PB1939: CLINICAL AND GENETIC CHARACTERISTICS OF PATIENTS WITH GAUCHER DISEASE: A SINGLE CENTER EXPERIENCE by Elsayed, S., Shawky, R., Abdelkalek, A.

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The role of genomics in prevention or reducing the impact of congenital malformations by Shawky, R M, Sadik, D I

“…Congenital malformations (CMs) are permanent changes produced by abnormality of development in a body structure during prenatal life. Population based studies…”
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A polyketide synthase in glycopeptide biosynthesis: the biosynthesis of the non-proteinogenic amino acid (S)-3,5-dihydroxyphenylglycine by Pfeifer, V, Nicholson, G J, Ries, J, Recktenwald, J, Schefer, A B, Shawky, R M, Schröder, J, Wohlleben, W, Pelzer, S

“…Balhimycin, a vancomycin-type antibiotic from Amycolatopsis mediterranei, contains the unusual amino acid (S)-3,5-dihydroxyphenylglycine (Dpg), with an…”
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Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome by Shawky, R M, Elsayed, S M, Sadik, D I, Gad, S, Seifeldin, N S

“…EEC syndrome an autosomal dominant disorder with variable expression and cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. In this…”
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Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families by Shawky, R M, Sayed, N S, Elhawary, N A

“…Autosomal recessive congenital ichthyosis (ARCI) is a rare heterogeneous keratinization disorder of the skin. It is clinically divided into 2 subtypes,…”
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P668 Differential efficacy of biologic agents for Inflammatory Bowel Disease Unclassified and comparison with Ulcerative Colitis: a propensity score analysis of 4054 patients from the UK IBD BioResource by Kapizioni, C, Desoki, R, Balendran, K, Lam, D, Shawky, R, Pele, L, Parkes, M, Raine, T

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DOP74 Comparative effectiveness of vedolizumab and ustekinumab in Crohn’s Disease patients who failed anti-TNF treatment: Interrogating 1019 patients from the UK IBD BioResource by Desoki, R, Balendran, K, Kapizioni, C, Shawky, R, Parkes, M, Raine, T

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DOP09 Phenotypic and genetic determinants of medication response in patients in the UK IBD BioResource by Zhang, Q, Fachal, L, Shawky, R, Lamb, C, Parkes, M, Anderson, C, Raine, T

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OP17 Impact of phenotypic and genetic factors on Crohn’s Disease evolution in a cohort of 13,926 patients by Zhang, Q, Fachal, L, Shawky, R, Parkes, M, Anderson, C, Raine, T

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P563 Thiopurine adverse events in patients with inflammatory bowel disease in the UK: inflammatory bowel disease BioResource cohort by Hong, Y Y, Withanachchi, D A, Aslam, S P, Khalid, Y, Shawky, R, Parkes, M

“…Abstract Background The Inflammatory Bowel Disease (IBD) BioResource is a research database recruiting patients with Crohn’s disease (CD), ulcerative colitis…”
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Molecular diagnosis of spinal muscular atrophy in Egyptians by Shawky, R M, Abd el-Aleem, K, Rifaat, M M, Moustafa, A

“…This study was carried out with 33 spinal muscular atrophy (SMA) patients. DNA molecular studies of the SMA gene on the long arm of chromosome 5 (5q11.2q13.3)…”
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Cardiac and ocular manifestations in Egyptian patients with mucopolysaccharidoses by Shawky, R M, Abd el-Monim, M T, el-Sebai, A A, el-Sayed, S M

“…Cardiac and ocular manifestations were evaluated in 21 patients clinically suspected of mucopolysaccharidosis. After electrophoresis analysis of urinary…”
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Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene by Shawky, R M, el-Aleem, K A, Rifaat, M M, el-Naggar, R L, Marzouk, G M

“…Phenylketonuria (PKU) is an autosomal recessive genetic disorder caused by defects in the phenylalanine hydroxylase (PAH) system. Our work aimed to screen the…”
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Alphafetoprotein in screening for congenital hypothyroidism by Shawky, R M, Abd el-Fattah, S, el-din Azzam, M E, Rafik, M M, Osman, A

“…This study was conducted on 500 full-term neonates and 25 older patients with congenital hypothyroidism (CH), newly or previously diagnosed. Alphafetoprotein…”
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Nonribosomal biosynthesis of vancomycin-type antibiotics: a heptapeptide backbone and eight peptide synthetase modules by Recktenwald, Jurgen, Shawky, Riham, Puk, Oliver, Pfennig, Frank, Keller, Ulrich, Wohlleben, Wolfgang, Pelzer, Stefan

“…Eberhard-Karls-Universität Tübingen, Mikrobiologie/ Biotechnologie, Auf der Morgenstelle 28, D-72076 Tübingen, Germany 1 Technische Universität Berlin,…”
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Serum and salivary IgA in mumps by Shawky, R M, el Kholy, M S, el Shawarby, L, Wasef, A A

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Frameshift deletion mechanisms in Egyptian Duchenne and Becker muscular dystrophy families by Elhawary, Nasser A, Nasser A, Elhawary, Shawky, Rabah Mohamad, Hashem, Nemat

“…Partial gene deletion is the major type of mutation leading to Duchenne muscular dystrophy (DMD) and its mild allelic form, Becker muscular dystrophy (BMD)…”
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Iron deficiency anaemia in children in Um Al-Quwain, United Arab Emirates by Shawky, R M, El Din, S S

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Biochemical studies in cases of childhood liver cirrhosis by Khalifa, A A, Badrawy, F, Shawky, R, Farag, R M, Tash, F M

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Determination of immunoglobulin E (IgE) and complement III (C3) in children with giardiasis by El-Badrawy, F, El-Hady, K A, Makled, M K, Shawky, R, Salem, M, Bassiuny, W

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