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Maternal risk factors in young Egyptian mothers of Down syndrome

Autor: Shawky, RM, Elsobky, E, Elsayed, SM, Kamal, H, Eðin, Y, Akar, N

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 10, No 2 (2009)

Introduction: We investigated the possible maternal risk factors that mayincrease the incidence of Down syndrome (DS) in young Egyptian mothers(younger than 35 years) especially methylene tetrahydrofolate reductase(MTHFR) enzyme C677T polymorphism.Su

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::113fda16bc2e1f215a0ed54795255f44
https://www.ajol.info/index.php/ejhg/article/view/47792

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A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree

Autor: Karim Ma, Mario A. Cleves, Parsian A, Elsayed Ms, Abbas Parsian, Elsobky E, Bracey J

Publikováno v: Clinical genetics. 70(5)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26d7e19d48234bd6cd6fc7ae8aceba70
https://pubmed.ncbi.nlm.nih.gov/17026626

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EXTRACORPOREAL SHOCK WAVE LITHOTRIPSY AS MONOTHERAPY FOR STONES IN SOLITARY KIDNEY

Autor: MADBOULY, K., ELSOBKY, E., SHEIR, K.Z., ERAKY, I., KENAWY, M.

Publikováno v: African Journal of Urology; Vol 8, No 2 (2002); 87-93

Objective To evaluate extracorporeal shock wave lithotripsy (ESWL) as a monotherapy for urolithiasis in patients with solitary kidney and to determine the factors that may affect its results. Patients and Methods Using the Dornier MFL 5000 lithotript

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::df66adfa3e7097ad3c348e0f8c98a46e
https://www.ajol.info/index.php/aju/article/view/7992

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