Items where Author is "Youssefian, L."

Article

(2026) Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients. Clinical genetics. pp. 564-570. ISSN 1399-0004 (Electronic) 0009-9163 (Linking)

(2026) Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses. Human Genetics. p. 19. ISSN 0340-6717

(2026) Genotype-phenotype correlations and cancer risk in monogenic epidermodysplasia verruciformis. Journal of the European Academy of Dermatology and Venereology : JEADV. e755-e758. ISSN 1468-3083 (Electronic) 0926-9959 (Print) 0926-9959 (Linking)

(2026) Human LFA-1 governs T cell immune surveillance of the skin. Science Immunology. p. 30. ISSN 2470-9468

(2026) Longest surviving patient with a homozygous splice-altering EGFR pathogenic variant presenting with skin autoinflammation and a Bartter-like salt-losing tubulopathy. Journal of medical genetics. ISSN 1468-6244 (Electronic) 0022-2593 (Linking)

(2025) Ataxia With Vitamin E Deficiency: Case Series, Vitamin E Therapy Response, Founder Effect, and In Silico Analysis. Clinical genetics. pp. 366-368. ISSN 1399-0004 (Electronic) 0009-9163 (Linking)

(2025) Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation. Journal of Medical Genetics. p. 12. ISSN 0022-2593

(2025) DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) Pneumonia. Journal of Clinical Immunology. p. 14. ISSN 0271-9142

(2022) Whole-transcriptome sequencing identifies postzygotic <i>ATP2A2</i> mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease. Experimental Dermatology. pp. 943-948. ISSN 0906-6705

(2022) Whole-transcriptome sequencing identifies postzygotic ATP2A2 mutations in a patient misdiagnosed with herpes zoster, confirming the diagnosis of very late-onset segmental Darier disease. EXPERIMENTAL DERMATOLOGY. pp. 943-948. ISSN 0906-6705 1600-0625 J9 - EXP DERMATOL

(2022) Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions. JCI INSIGHT. ISSN 2379-3708 J9 - JCI INSIGHT

(2022) Whole-transcriptome sequencing-based concomitant detection of viral and human genetic determinants of cutaneous lesions. Journal of Investigative Dermatology. S83-S83. ISSN 0022-202X

(2021) Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy. Cell. 3812-+. ISSN 0092-8674