Search Results - "Korkmaz, Anıl"

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    Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes by Kırkgöz, Tarık, Gürsoy, Semra, Acar, Sezer, Nalbantoğlu, Özlem, Özkaya, Beyhan, Anıl Korkmaz, Hüseyin, Hazan, Filiz, Özkan, Behzat

    Published in Archives of Endocrinology and Metabolism (10-11-2023)
    “…Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been…”
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    Epidemiologic Evaluation and Clinical Aspects of Superficial Corneal Foreign Body Injuries at a Tertiary Referral Center in İstanbul by Önal Günay, Betül, Güneş, Şükrü Kenan, Korkmaz, Anıl, Bayraktar, Oğuz, Sezgin Akçay, Betül İlkay

    Published in Eurasian journal of emergency medicine (01-06-2019)
    “…Aim: To assess the demographic characteristics and clinical aspects of superficial corneal foreign body (CFB) trauma, as well as to estimate the impact of…”
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    Hypoparathyroidism in children and adolescents by Korkmaz, Hüseyin Anıl, Ozkan, Behzat

    “…Hypoparathyroidism is characterized by insufficient parathyroid hormone (PTH) release from the parathyroid glands to maintain serum calcium level within normal…”
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    A case of Turner syndrome with concomitant transient hypogammaglobulinaemia of infancy and central diabetes insipidus by Korkmaz, Hüseyin Anıl, Özkan, Behzat, Hazan, Filiz, Büyükinan, Muammer, Çelik, Tanju

    “…Turner syndrome (TS) is a genetic disorder that affects development in females and is characterized by the complete or partial absence of the second sex…”
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    A Case of Waardenburg Syndrome Type 1 with Maturity-onset Diabetes of The Young Type 2 by Hüseyin Anıl Korkmaz, Leyla Özer, Behzat Özkan

    Published in Journal of Behçet Uz Children's Hospital (09-08-2023)
    “…Waardenburg syndrome (WS) is known as a group of genetic conditions associated with hearing problems and pigmentary abnormalities of the hair, skin, and eyes…”
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    Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature by Gürsoy, Semra, Hazan, Filiz, Aykut, Ayça, Nalbantoğlu, Özlem, Korkmaz, Hüseyin Anıl, Demir, Korcan, Özkan, Behzat, Çoğulu, Özgür

    “…Objective: SHOX gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degrees of growth impairment,…”
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    The effect of antiepileptic drugs on thyroid function in children by Yılmaz, Ünsal, Yılmaz, Tuba Sevim, Akıncı, Gülçin, Korkmaz, Hüseyin Anıl, Tekgül, Hasan

    Published in Seizure (London, England) (01-01-2014)
    “…Abstract Background Limited and conflicting data exist for the influence of antiepileptic drugs on thyroid function in children. Objective The aim of this…”
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    Assessment of early atherosclerosis and left ventricular dysfunction in children with 21‐hydroxylase deficiency by Özdemir, Rahmi, Korkmaz, Hüseyin Anil, Küçük, Mehmet, Karadeniz, Cem, Meşe, Timur, Özkan, Behzat

    Published in Clinical endocrinology (Oxford) (01-04-2017)
    “…Summary Aim We analysed 25 children with 21‐hydroxylase deficiency who received glucocorticoid and/or mineralocorticoid treatment for at least 12 months to…”
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    Central Diabetes Insipidus in Children and Adolescents: Twenty-Six Year Experience from a Single Centre by Korkmaz, Hüseyin Anil, Kapoor, Ritika R, Kalitsi, Jennifer, Aylwin, Simon JB, Buchanan, Charles R, Arya, Ved Bhushan

    Published in International journal of endocrinology (08-03-2022)
    “…Introduction. Paediatric cohorts of central diabetes insipidus (CDI) have shown varying prevalence for different causes of CDI. The objective of this study was…”
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    A case of immune-mediated type 1 diabetes mellitus due to congenital rubella ınfection by Korkmaz, Hüseyin Anıl, Ermiş, Çağatay

    “…Congenital rubella infection is a transplacental infection that can cause intrauterine growth retardation, cataracts, patent ductus arteriosus, hearing loss,…”
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    Neonatal seizure as a manifestation of unrecognized maternal hyperparathyroidism by Korkmaz, Hüseyin Anıl, Ozkan, Behzat, Terek, Demet, Dizdarer, Ceyhun, Arslanoğlu, Sertaç

    “…Maternal hypercalcemia suppresses parathyroid activity in the fetus resulting in impaired parathyroid responsiveness to hypocalcemia after birth. Resultant…”
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