Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Hedieh Akhlaghi

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing

Frontiers in Immunology

English

Related publications

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics

English

Bi-Allelic Missense ABCA3 Mutations in a Patient With Childhood ILD Who Reached Adulthood

ERJ Open Research

Respiratory Medicine

English

Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics

English

A General Functional Response of Cytotoxic T Lymphocyte-Mediated Killing of Target Cells

Biophysical Journal

English

Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

American Journal of Human Genetics

English

Adenovirus Vector-Infected Cells Can Escape Adenovirus Antigen-Specific Cytotoxic T-Lymphocyte Killing in Vivo.

Journal of Virology

English

Bi-Allelic ADPRHL2 Mutations Cause Neurodegeneration With Developmental Delay, Ataxia, and Axonal Neuropathy

American Journal of Human Genetics

English

NLRC5 Deficiency Selectively Impairs MHC Class I- Dependent Lymphocyte Killing by Cytotoxic T Cells

Journal of Immunology

English

Activating PIK3CD Mutations Impair Human Cytotoxic Lymphocyte Differentiation, Function and EBV Immunity

Journal of Allergy and Clinical Immunology

English