Associated Papers
Identifying novel genetic variants in epidermolysis Bullosa among Middle Eastern Arab Families: Insights from whole exome sequencing and computational analysis.
Shehata N et al.
Plos One, 2025
Genetic Implications and Management of Epidermolysis Bullosa in the Saudi Arabian Population.
Shehata NA et al.
Cureus, 2024
Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report.
Wang W et al.
Frontiers in Genetics, 2022
Hologene 5: A Phase II/III Clinical Trial of Combined Cell and Gene Therapy of Junctional Epidermolysis Bullosa.
De Rosa L et al.
Frontiers in Genetics, 2021
Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia.
Alharthi R et al.
Frontiers in Genetics, 2021
Novel compound heterozygous and homozygous variants of laminin subunit β3 gene underlie non-Herlitz junctional epidermolysis bullosa in two paternal half-brothers from Saudi Arabia.
Al-Zahrani HS et al.
Congenital Anomalies, 2019
Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait.
Nanda A et al.
International Journal of Dermatology, 2018
Regeneration of the entire human epidermis using transgenic stem cells.
Hirsch T et al.
Nature, 2017
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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