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Mujahed I. Mustafa, Abdelrahman H. Abdelmoneim, Nafisa M. Elfadol, Naseem S. Murshed, Zainab O. Mohammed, Mohamed A. Hassan
Pág. 1 - 11
The Simpson-Golabi-Behmel Syndrome (SGBS) or overgrowth Syndrome is an uncommon genetic X-linked disorder highlighted by macrosomia, renal defects, cardiac weaknesses and skeletal abnormalities. The purpose of the work was to classify the functional nsSN...
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Mujahed I Mustafa, Abdelrahman H Abdelmoneim, Nafisa M Elfadol, Soada A Osman, Tebyan A Abdelhameed, Mohamed A Hassan
Pág. 96 - 113
Hereditary pancreatitis (HP) is a rare heterogeneous disease with partial penetrance identified by frequent episodes of severe abdominal pain, often showing in young aged children. It is complicating by chronic pancreatitis, and high rate of pancreatic c...
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