نتایج جستجو برای: rare mutation

تعداد نتایج: 516877  

Journal: :Japanese journal of clinical oncology 2010
Katsuhiro Masago Shiro Fujita Kaoru Irisa Yung Hak Kim Masataka Ichikawa Tadashi Mio Michiaki Mishima

Recently, two small-molecule kinase inhibitors targeting epidermal growth factor receptor have proven effective in the treatment of non-small cell lung cancer. There are specific activating mutations within the tyrosine kinase domain of epidermal growth factor receptor related to the sensitivity of tyrosine kinase inhibitors. However, it is unknown whether rare mutations in the N-lobe (exons 18...

2014
Kawther El Shafie Allal Ouhtit Yousuf Al Farsi Abeer Al Sayegh Mohammed Al Shafaee

INTRODUCTION Resistance to thyroid hormone is a rare syndrome, where although the level of thyroid hormone is elevated, the level of thyroid stimulating hormone is not suppressed. The patient in our case report is, to the best of our knowledge, the first with this syndrome identified in Oman. CASE PRESENTATION In one Omani family, a 15-year-old girl of Arabian origin was pre-diagnosed with re...

Journal: :Arquivos De Neuro-psiquiatria 2023

Case presentation: Fifteen year-old male, brown skin, with non-consanguineous parents and a previous diagnosis of intellectual deficiency attention deficit hyperactivity disorder. When the patient was ten years old symptoms began gait impairment, bilateral foot drop calf pain. The progressed 7 months before our clinical evaluation also started presenting muscle contracture in both upper limbs n...

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