- ORCID iD
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0000-0001-6636-5537
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- Journal Article
- A1
- open access
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort
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Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients
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Inherited retinal disease gene panel in posterior or panuveitis with dystrophic features
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- Journal Article
- A1
- open access
Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond
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- Journal Article
- A1
- open access
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants
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Unveiling PTPN2 mutations in two families as a novel genetic driver fueling autoimmunity
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Diagnostic yield of an inherited retinal disease gene panel in retinopathy of unknown origin
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PTPN2 deficiency expands the monogenetic causes of dysregulated JAK/STAT signaling resulting in autoimmunity
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- Miscellaneous
- open access
Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond
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- Miscellaneous
- open access
ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency