Miriam Entesarian

Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands

Miriam Entesarian, Hans Matsson, Joakim Klar et al. · Nature Genetics · 2005 · 150 citations

Genetics, Pathology, Salivary Glands +6

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production

Samuel C. C. Chiang, Jakob Theorell, Miriam Entesarian et al. · Blood · 2013 · 138 citations · Full text

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2

Marie Meeths, Miriam Entesarian, Waleed Al–Herz et al. · Blood · 2010 · 129 citations · Full text

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D

Marie Meeths, Samuel C. C. Chiang, Stephanie M. Wood et al. · Blood · 2011 · 120 citations · Full text

Welander Distal Myopathy Caused by an Ancient Founder Mutation in<i>TIA1</i>Associated with Perturbed Splicing

Joakim Klar, Maria Sobol, Atle Melberg et al. · Human Mutation · 2013 · 105 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +15