Detalhe da pesquisa
1.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(5): 840-856, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33861953
2.
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Am J Hum Genet
; 108(6): 1164, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34087166
3.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Hum Mutat
; 36(4): 395-402, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25604253
4.
Splicing Switching of Alternative Last Exons Due to a Deletion Including Canonical Polyadenylation Site in COL6A2 Gene Causes Recessive UCMD.
Neurol Genet
; 10(2): e200137, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544966
5.
Estimating Societal Cost of Illness and Patients' Quality of Life of Duchenne Muscular Dystrophy in Egypt.
Value Health Reg Issues
; 33: 10-16, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36162195
6.
Early Cost-Utility Analysis of Ataluren and Eteplirsen in the Treatment of Duchenne Muscular Dystrophy in Egypt.
Value Health Reg Issues
; 38: 109-117, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37862859
7.
Virulent Escherichia coli strains among Egyptian patients with acute diarrhoea versus urinary tract infection, and their antibiotic susceptibility.
Arab J Gastroenterol
; 20(2): 74-80, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30905635
8.
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Orphanet J Rare Dis
; 14(1): 199, 2019 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31416449
9.
A 53-year-old man with a 16-year history of asymmetrical proximal muscle weakness, facial muscle weakness, and scapular winging.
Brain Pathol
; 33(5): e13171, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37259682
10.
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Orphanet J Rare Dis
; 13(1): 155, 2018 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30185236
11.
"Boule du biceps" in dysferlinopathy.
Neurology
; 94(2): 83-84, 2020 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31822577
12.
Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B.
J Neurol Sci
; 395: 169-171, 2018 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30366248
13.
Polymerase chain reaction-guided diagnosis of infective keratitis - a hospital-based study.
Curr Eye Res
; 37(11): 1005-11, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22746322
14.
High rates of intestinal colonization with extended-spectrum lactamase-producing Enterobacteriaceae among healthy individuals.
J Investig Med
; 59(8): 1284-6, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22068018
15.
Carriage of Staphylococcus aureus in the nose of patients on regular dialysis treatment using hemodialysis catheters.
Hemodial Int
; 15(4): 563-7, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22111827
16.
Nail dermoscopy is a helpful tool in the diagnosis of onychomycosis: A case control study.
Eur J Dermatol
; 25(5): 494-5, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26576042