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Springer Nature1
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✓Human Genetics1
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20251
Sayed M. El-Sayed results 1 · Newest (Page 1/1, per page 25)
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Journal: Human Genetics ×Author: Sayed M. El-Sayed ×Clear All Filters
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Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndromeNARA Subscribed
Human Genetics · 2025 · Vol. 144 · Issue 7 · Springer
Neveen A. Soliman; Mohamed A. Elmonem; Ahmed F. El-Sayed; Eman Ramadan; Ahmed M. Badr; Fatma M. Atia; Rasha Helmy; May O. Amer; Ahmed Abd El-Raouf; Fadya M. El-Garhy; Omnia M. Abdel-Haseb; Tokka M. Hassan; Yasmeen K. Farouk; Ahmed El-Hosseiny; Usama Bakry; Asmaa Ali; Sheri Saleeb; Tasnim A. Ghanim; Mahynour Albarbary; Ahmed Elmahy; Tarek Elnagdy; Amira Ragheb; Wael A. Hassan; Ahmed Moustafa; Khaled Amer
Genetic causes of steroid-resistant-nephrotic-syndrome (SRNS) represent a rapidly growing number of monogenic diseases. The reported diagnostic yield of various studies applying genetic panels and exome-sequencing to diagnose SRNS is usually < 30%. We performed genome-sequencing in a cohort of Egyptian SRNS patients. We recruited 47 SRNS patients belonging to 41 unrelated families [28 males/19 females; median (range): 6 (0.5–2...
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