Search Results - "Donmez, Ayşe Sena"
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Genetic Forms of Calciopenic Rickets
Published in The Eurasian journal of medicine (01-12-2022)“…Rickets is a disease involving calcium and phosphate balance disturbances in the pediatric population. A series of hereditary disorders known as vitamin…”
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The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome
Published in Journal of clinical research in pediatric endocrinology (01-06-2015)“…Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural…”
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Pediatric Oropharyngeal Tularemia Cases: Challenges in Management
Published in Vector borne and zoonotic diseases (Larchmont, N.Y.) (01-09-2024)“…Tularemia is one of the most prevalent zoonoses across the world. Patients in Turkiye mostly contract the oropharyngeal form, acquired through drinking, or…”
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A Genetic Approach in the Evaluation of Short Stature
Published in The Eurasian journal of medicine (01-12-2022)“…Short stature is considered a condition in which the height is 2 standard deviations below the mean height of a given age, sex, and population group. Human…”
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Hypoparathyroidism-Deafness-Renal Disease Syndrome: The First Case Report from Turkey
Published in Journal of clinical research in pediatric endocrinology (01-09-2015)“…Introduction: Hypoparathyroidism-Deafness-Renal Disease (HDR) syndrome is a rare autosomal dominant genetic disorder that is characterized by a triad of…”
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