Detalhe da pesquisa
1.
Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.
Clin Oral Investig
; 28(5): 254, 2024 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38630328
2.
Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.
Int J Mol Sci
; 20(21)2019 Oct 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31652981
3.
Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.
Am J Med Genet A
; 176(5): 1190-1194, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681084
4.
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Hum Mutat
; 37(2): 170-4, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26593283
5.
Papillon-Lefevre syndrome in twelve Egyptian patients: Five novel CTSC variants and functional characterization of a missense variant and its effect on splicing.
Arch Oral Biol
; 158: 105869, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38104461
6.
Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.
Heliyon
; 10(1): e23688, 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38192829
7.
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.
Genes (Basel)
; 13(6)2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741818
8.
Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.
Genes (Basel)
; 12(10)2021 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34680947
9.
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
Genes (Basel)
; 12(9)2021 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573371
10.
Oral mucous membrane pemphigoid in a 6-year-old boy: diagnosis, treatment and 4 years follow-up.
Int J Paediatr Dent
; 20(1): 76-9, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20059595
11.
Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature.
Eur J Med Genet
; 63(11): 104045, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32835847
12.
Ligneous conjunctivitis with oral mucous membrane involvement and decreased plasminogen level.
Pediatr Dermatol
; 26(4): 448-51, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19689523
13.
Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement: first Egyptian report.
Dermatol Online J
; 15(5): 6, 2009 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19624984
14.
Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients.
J Pediatr Genet
; 8(4): 179-186, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31687254
15.
3-M syndrome: a report of three Egyptian cases with review of the literature.
Clin Dysmorphol
; 15(2): 55-64, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16531729