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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. 2024 Feb;158:105869. doi: 10.1016/j.archoralbio.2023.105869. Epub 2023 Dec 6.
Arch Oral Biol. 2024.
PMID: 38104461
Abnormal profiles of cathepsin C secreted in urine of Papillon Lefevre syndrome patients.
Sabry S, Abouzaid MR, Mostafa MI, Abdel-Hamid MS, Saad AK, Soliman HN, Ahmed NEB.
Sabry S, et al. Among authors: abouzaid mr.
Eur J Med Genet. 2022 Oct;65(10):104605. doi: 10.1016/j.ejmg.2022.104605. Epub 2022 Sep 1.
Eur J Med Genet. 2022.
PMID: 36058494
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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.
Ahmed HA, El-Kamah GY, Rabie E, Mostafa MI, Abouzaid MR, Hassib NF, Mehrez MI, Abdel-Kader MA, Mohsen YH, Zada SK, Amr KS, Sayed ISM.
Ahmed HA, et al. Among authors: abouzaid mr.
Genes (Basel). 2021 Sep 8;12(9):1389. doi: 10.3390/genes12091389.
Genes (Basel). 2021.
PMID: 34573371
Free PMC article.
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Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Abdel-Salam GMH, Sayed ISM, Afifi HH, Abdel-Ghafar SF, Abouzaid MR, Ismail SI, Aglan MS, Issa MY, El-Bassyouni HT, El-Kamah G, Effat LK, Eid M, Zaki MS, Temtamy SA, Abdel-Hamid MS.
Abdel-Salam GMH, et al. Among authors: abouzaid mr.
Am J Med Genet A. 2020 Jun;182(6):1407-1420. doi: 10.1002/ajmg.a.61585. Epub 2020 Apr 8.
Am J Med Genet A. 2020.
PMID: 32267100
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Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-Lefèvre Syndrome?
Mostafa MI, Abouzaid MR, Thomas MM, El-Kamah GY.
Mostafa MI, et al. Among authors: abouzaid mr.
J Pediatr Genet. 2017 Dec;6(4):238-240. doi: 10.1055/s-0037-1602801. Epub 2017 May 2.
J Pediatr Genet. 2017.
PMID: 29142767
Free PMC article.
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