| Baskıdaki Makaleler |
| << Geri |
| ORIJINAL ARAŞTIRMA |
| 1. | Triglyceride Glucose Index as a Surrogate Measure of Insulin Sensitivity in a Caucasian Pediatric Population Valeria Calcaterra, Chiara Montalbano, Annalisa De Silvestri, Gloria Pelizzo, Corrado Regalbuto, Valeria Paganelli, Riccardo Albertini, Francesco Delle Cave, Daniela Larizza, Hellas Cena
doi: 10.4274/jcrpe.galenos.2019.2019.0024 Sayfa 0
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| 2. | Assessment of the Admission and Follow-up Characteristics of Children Diagnosed with Secondary Osteoporosis Emine Kübra Şen, Merih Berberoğlu, Gizem Şenyazar, Sirmen Kızılcan Çetin, Ayşegül Ceran, Seda Erişen Karaca, Elif Özsu, Zehra Aycan, Zeynep Şıklar
doi: 10.4274/jcrpe.galenos.2024.2024-4-4 Sayfa 0
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| 3. | Electrocardiographic Findings in Children Treated with Leuprolide Acetate for Precocious Puberty: Does it Cause Prolonged QT? Esma Ebru Altun, Ayşe Yaşar, Fatma Dursun, Gülcan Seymen, Heves Kırmızıbekmez
doi: 10.4274/jcrpe.galenos.2024.2024-2-8 Sayfa 0
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| 4. | Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single-Center Experience Esra Deniz PAPATYA ÇAKIR, Melike ERSOY, Nihan ÇAKIR BİÇER, Asuman GEDİKBAŞI
doi: 10.4274/jcrpe.galenos.2024.2024-1-11 Sayfa 0
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| 5. | Evaluation of Arrhythmia Risk in Children with Type 1 Diabetes Mellitus Yasemin ÖZDEMİR ŞAHAN, Gönül BÜYÜKYILMAZ, Oğuzhan DOĞAN, Mehmet BOYRAZ, İbrahim İlker ÇETİN, İbrahim ECE
doi: 10.4274/jcrpe.galenos.2024.2024-7-28 Sayfa 0
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| 6. | Evaluation of Growth Characteristics and Final Heights of Cases Diagnosed with Noonan Syndrome on GH Treatment Zeynep Şıklar, Merih Berberoğlu, Sirmen Kızılcan Çetin, Melek Yıldız, Serap Turan, Şükran Darcan, Semra Çetinkaya, Nihal Hatipoğlu, Ruken Yıldırım, Korcan Demir, Öznur Vermezoğlu, Zehra Yavaş Abalı, Deniz Özalp Kızılay, Nilay Görkem Erdoğan, Ülkü Gül Şiraz, Zerrin Orbak, İlker Tolga Özgen, Aysun Bideci, Beray Selver Eklioğlu, Esin Karakılıç Özturan, Gürkan Tarçın, Abdullah Bereket, Feyza Darendeliler
doi: 10.4274/jcrpe.galenos.2024.2024-7-3 Sayfa 0
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| 7. | Experience in a PHTS Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome Esther M.G. Bormans, Janneke H.M. Schuurs-Hoeijmakers, Petra van Setten, Linda A.J. Hendricks, Meggie M.C.M. Drissen, Martin Gotthardt, Hedi L. Claahsen-van der Grinten, Nicoline Hoogerbrugge, Jolanda H. Schieving
doi: 10.4274/jcrpe.galenos.2024.2024-3-14 Sayfa 0
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| 8. | Frequency of Delayed Puberty in Boys with Contemporary Management of Duchenne Muscular Dystrophy Sarah McCarrison, Melissa Denker, Jennifer Dunne, Iain Horrocks, Jane McNeilly, Shuko Joseph, Sze Choong Wong
doi: 10.4274/jcrpe.galenos.2024.2024-2-18 Sayfa 0
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| 9. | Germ Cell Dysfunction is Universal in Male Patients with β-Thalassemia Following Hematopoietic Stem Cell Transplantation During Childhood and Adolescence Nuttha Piriyapokin, Pat Mahachoklertwattana, Preamrudee Poomthavorn, Usanarat Anurathapan, Wararat Chiangjong
doi: 10.4274/jcrpe.galenos.2024.2024-6-5 Sayfa 0
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| 10. | Hospital Admission for Diabetic Ketoacidosis in Thai Children and Adolescents with Type 1 Diabetes: A National Study during 2015-2019 Somboon Wankanit, Kaewjai Thepsuthammarat, Preamrudee Poomthavorn, Taninee Sahakitrungruang, Pat Mahachoklertwattana
doi: 10.4274/jcrpe.galenos.2024.2024-6-4 Sayfa 0
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| 11. | Inequalities in Access to Diabetes Technologies in Children with Type 1 Diabetes: A Multicenter, Cross-sectional Study from Türkiye Kagan Ege Karakus, Sibel Sakarya, Ruken Yıldırım, Şervan Özalkak, Mehmet N. Özbek, Nurdan Yıldırım, Gülcan Delibağ, Beray S. Eklioğlu, Belma Haliloğlu, Murat Aydın, Heves Kırmızıbekmez, Tuğba Gökçe, Ecem Can, Elif Eviz, Gül Yeşiltepe-Mutlu, Şükrü Hatun
doi: 10.4274/jcrpe.galenos.2024.2024-4-6 Sayfa 0
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| 12. | Is Automated Insulin Delivery System Therapy Safe and Effectıve in Children Under 7 Years Old? Nihal Gul Uslu, Deniz Ozalp Kizilay, Gunay Demir, Yasemin Atik Altinok, Sukran Darcan, Samim Ozen, Damla Göksen
doi: 10.4274/jcrpe.galenos.2024.2024-11-2 Sayfa 0
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| 13. | Liraglutide Treatment Improves Glycaemic Dysregulation, Body Composition, Cardiometabolic Variables and Uncontrolled Eating Behaviour in Adolescents with Severe Obesity L. Apperley, J. Parkinson, S. Senniappan
doi: 10.4274/jcrpe.galenos.2024.2023-10-10 Sayfa 0
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| 14. | Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation Samim Özen, Damla Gökşen, Ferda Evin, Esra Işık, Hüseyin Onay, Bilçağ Akgün, Aysun Ata, Tahir Atik, Füsun Düzcan, Ferda Özkınay, Şükran Darcan, Özgür Çoğulu
doi: 10.4274/jcrpe.galenos.2024.2022-12-8 Sayfa 0
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| 15. | Normative Values for Thyroid Volume and Tracheal Index in Healthy Turkish Newborns in an Iodine Sufficient Region Göksel TUZCU, Reyhan DEVECİ SEVİM, Mustafa GÖK, Ayşe ANIK, Ahmet ANIK
doi: 10.4274/jcrpe.galenos.2024.2024-7-20 Sayfa 0
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| 16. | Predictors and Trends of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes Mellitus in Malaysian Children Meenal Mavinkurve, Nurul Hanis Ramzi, Muhammad Yazid Bin Jalaludin, Nurshadia Samingan, Azriyanti Anuar Zaini
doi: 10.4274/jcrpe.galenos.2024.2024-1-8 Sayfa 0
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| 17. | The Effect of Dietary Acid Load on Cardiometabolic Risk, Psychological Resilience and Sleep Quality in Adolescents with Obesity Rukiye Bozbulut, Esra Döğer, Mahmut Orhun Çamurdan, Aysun Bideci
doi: 10.4274/jcrpe.galenos.2024.2024-3-9 Sayfa 0
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| 18. | The Relationship Between Sleep Quality, Sleep Duration, Social Jet Lag and Obesity in Adolescents Funda Yıldız, Melike Zeynep Tuğrul Aksakal, Raif Yıldız, Firdevs Baş
doi: 10.4274/jcrpe.galenos.2024.2024-2-2 Sayfa 0
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| 19. | Treatment of Severe Hyperglycemia in Extremely Preterm Infants Using Continuous Subcutaneous Insulin Therapy M. Boettger, T. Zhou, J. Knopp, J. Geoffrey Chase, A. Heep, M. von Vangerow, E. Cloppenburg, M. Lange
doi: 10.4274/jcrpe.galenos.2024.2024-2-9 Sayfa 0
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| 20. | Whole Exome Sequencing Revealed Paternal Inheritance of Obesity-related Genetic Variants in a Family with an Exclusively Breastfed Infant Hazal Banu Olgun Celebioglu, Ayse Pinar Ozturk, Sukran Poyrazoglu, Feyza Nur Tuncer
doi: 10.4274/jcrpe.galenos.2024.2024-1-7 Sayfa 0
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| DERLEME |
| 21. | A Current Perspective on Delayed Puberty and Its Management Ayhan Abacı
doi: 10.4274/jcrpe.galenos.2024.2024-2-7 Sayfa 0
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| 22. | Approach to Newborns with Elevated TSH: A Different Perspective from the International Guidelines for Iodine-Deficient Countries Cengiz Kara, Hüseyin Anıl Korkmaz
doi: 10.4274/jcrpe.galenos.2024.2024-4-15 Sayfa 0
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| 23. | Current Diagnostic Approaches in the Genetic Diagnosis of Disorders of Sex Development Deniz Özalp Kızılay, Samim Özen
doi: 10.4274/jcrpe.galenos.2024.2024-3-3 Sayfa 0
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| 24. | Expanding the Clinical Features of Schimke Immuno-Osseous Dysplasia: A New Patient with a Novel Variant and Novel Clinical Findings Ceren Alavanda, Şenol Demir, Serçin Güven, Mehmet Eltan, Sevgi Bilgiç Eltan, Asena Pınar Sefer, Serim Pul, Tülay Güran, Harika Alpay, Ahmet Arman, Pınar Ata, Serap Turan
doi: 10.4274/jcrpe.galenos.2024.2024-1-17 Sayfa 0
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| 25. | Gender Difference and Changes in the Prevalence of Obesity Over Time in Children Under 12 Years Old: A Meta-analysis Xuefeng Chen, Wei Wu, Jinna Yuan, Xuelian Zhou, Ke Huang, Yangli Dai, Guanping Dong, Junfen Fu
doi: 10.4274/jcrpe.galenos.2024.2023-11-11 Sayfa 0
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| 26. | Long-acting Growth Hormone Therapy, Rational and Future Aspects Semra Çetinkaya, Erdal Eren, Furkan Erdoğan, Feyza Darendeliler
doi: 10.4274/jcrpe.galenos.2024.2023-11-8 Sayfa 0
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| OLGU SUNUMU |
| 27. | Long Term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism Nur Berna Celik, Monique Losekoot, Emregül Isık, E. Nazlı Gonc, Ayfer Alikasifoglu, Nurgün Kandemir, Z. Alev Ozon
doi: 10.4274/jcrpe.galenos.2022.2022-8-1 Sayfa 0
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| 28. | A 15-year-old Girl with a Lateral Neck Mass Turning Out to Be Papillary Thyroid Carcinoma-Lateral Ectopic Papillary Thyroid Carcinoma or Lymph Node Metastasis? Marijke E.B. Kremer, A. S. Paul van Trotsenburg, Anton F. Engelsman, Esther Edelenbos, Arantza Farina-Sarasqueta, Joost van Schuppen, José C.C. Koppes, Joep P.M Derikx, Christiaan F. Mooij
doi: 10.4274/jcrpe.galenos.2023.2023-4-6 Sayfa 0
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| 29. | A Boy with 46,XX Karyotype (SRY double-positive) having a Leydig Cell Tumor Merve Gullu, Sultan AYDIN, Tarkan KALKAN, Tangül PINARCI, Doğa TURKKAHRAMAN
doi: 10.4274/jcrpe.galenos.2023.2022-9-14 Sayfa 0
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| 30. | A Boy with Reset Osmostat Who Developed Chronic Hyponatremia due to Hypothalamic Injury Caused by a Giant Arachnoid Cyst Junko Naganuma, Satomi Koyama, Yoshiyuki Watabe, Shigemi Yoshihara
doi: 10.4274/jcrpe.galenos.2023.2022-7-16 Sayfa 0
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| 31. | A Challenging Case of Ectopic ACTH Syndrome with Bronchial Carcinoid and Literature Review Sema Nilay ABSEYİ, Zeynep ŞIKLAR, Elif ÖZSU, Ayten KAYI CANGIR, Emel CABİ ÜNAL, Nurdan TAÇYILDIZ, Zehra AYCAN, Merih BERBEROĞLU
doi: 10.4274/jcrpe.galenos.2023.2023-7-6 Sayfa 0
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| 32. | A Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome – a Case Report N. Yordanova, V. Iotova, D. J. G. Mackay, I. K. Temple, S. Stoyanova, M. Hachmeriyan
doi: 10.4274/jcrpe.galenos.2022.2022-9-19 Sayfa 0
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| 33. | A Rare Case of Monogenic Obesity due to a Novel Variant in the ADCY3 Gene: Challenges in Follow-up and Treatment Bahar ÖZCABI, Asude DURMAZ, Ayça AYKUT, Hasan ÖNAL, Samim ÖZEN
doi: 10.4274/jcrpe.galenos.2023.2023-7-2 Sayfa 0
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| 34. | A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings Melek Yildiz, Zerrin Onal, Gozde Yesil, Tugce Goksu Kabil, Guven Toksoy
doi: 10.4274/jcrpe.galenos.2023.2022-10-4 Sayfa 0
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| 35. | Atypical Presentation and Course of ACTH-independent Cushing’s Syndrome in Two Families Kübra Yüksek Acinikli, Sezer Acar, Ahu Paketçi, Özgür Kırbıyık, Mert Erbaş, Özge Besci, Gözde Akın Kağızmanlı, Deniz Kızmazoğlu, Oktay Ulusoy, Erdener Özer, Kutsal Yörükoğlu, Ayhan Abacı, Handan Güleryüz, Ece Böber, Korcan Demir
doi: 10.4274/jcrpe.galenos.2023.2023-9-15 Sayfa 0
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| 36. | Clinical and Genetic Analyses of Two Unrelated 46, XX Girls with Combined 17α-Hydroxylase/17,20-lyase Deficiency from China Yamei Li, Ting Han, Yingxia Wang, Jie Gao, Jianglin Zhang, Yinglan Wu
doi: 10.4274/jcrpe.galenos.2023.2022-8-7 Sayfa 0
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| 37. | Continuous Glucose Monitoring Systems and the Efficacy of Acarbose Treatment in Cystic Fibrosis-related Dysglycemia Emrullah Arslan, Deniz Ozalp Kızılay, Yasemin Atik Altinok, Bahar Girgin Dundar, Arzu Jalilova, Gunay Demir, Samim Ozen, Sukran Darcan, Ruhsar Damla Goksen
doi: 10.4274/jcrpe.galenos.2023.2023-2-12 Sayfa 0
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| 38. | Diagnostic Pitfalls of a Newborn with Congenital Nephrogenic Diabetes Insipidus Ömer Güran, Serçin Güven, Heves Kırmızıbekmez, Özlem Akgün Doğan, Leyla Karadeniz Bilgin
doi: 10.4274/jcrpe.galenos.2023.2022-11-22 Sayfa 0
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| 39. | Diazoxide-unresponsive Hyperinsulinemic Hypoglycaemia in a Preterm Infant with Heterozygous Insulin Receptor Gene Mutation Sarah Wing-yiu POON, Brian Hon-yin CHUNG, Mabel Siu-chun WONG, Anita Man-ching TSAN
doi: 10.4274/jcrpe.galenos.2023.2022-12-10 Sayfa 0
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| 40. | Early-onset Chronic Keratitis as the First Presenting Component of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1): A Case Report and Review of the Literature Enver Şimşek, Tulay Simsek, Oguz Cilingir
doi: 10.4274/jcrpe.galenos.2023.2023-9-17 Sayfa 0
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| 41. | Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline RET S891A Protooncogene Mutation: 7-Year Follow-up with Successful Sorafenib Treatment Sirmen Kizilcan Cetin, Zeynep Siklar, Elif Ozsu, Aysegul Ceran, Koray Ceyhan, Zehra Aycan, Ayca Kırmızı, Handan Dincaslan, Emel Unal, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2023.2023-7-13 Sayfa 0
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| 42. | Insulinoma Associated with MEN1 Syndrome: A Case of Persistent Hypoglycemia in School-aged Child Rodrigo Lemus-Zepeda, Aura María Salazar-Solarte, Diana Marcela Vasquez-Forero, Liliana Mejía-Zapata, Mario Jr. Angulo-Mosquera
doi: 10.4274/jcrpe.galenos.2023.2023-3-10 Sayfa 0
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| 43. | Lymphocytic Infundibuloneurohypophysitis Diagnosis Owing to Positive Anti-rabphilin-3A Antibody Test Result in an 8-year-old Boy with Early-onset Central Diabetes İnsipidus Yukino Shoji, Yuki Naruse, Naoko Iwata, Haruki Fujisawa, Atsushi Suzuki, Yoshihisa Sugimura, Masato Mori, Ryugo Hiramoto
doi: 10.4274/jcrpe.galenos.2023.2023-5-7 Sayfa 0
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| 44. | Novel Variant of SLC34A3 in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria Luciana Pinto Valadares, Daniel Rocha de Carvalho
doi: 10.4274/jcrpe.galenos.2023.2023-5-2 Sayfa 0
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| 45. | Pituitary Stalk Interruption Syndrome – Clinical Presentation and Management of a Potentially Life-threatening Disease in Newborns Ira Winkler, Elisabeth Steichen, Klaus Kapelari, Peter Wöckinger, Vera Neubauer, Ursula Kiechl-Kohlendorfer, Elke Griesmaier
doi: 10.4274/jcrpe.galenos.2023.2023-1-23 Sayfa 0
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| 46. | Seminoma in 46, XY Gonadal Dysgenesis: Rare Presentation and Review of the Literature Maamoun Adra, Hayato Nakanishi, Eleni Papachristodoulou, Evangelia Karaoli, Petroula Gerasimou, Antri Miltiadous, Katerina Nicolaou, Loizos Loizou, Nicos Skordis
doi: 10.4274/jcrpe.galenos.2023.2023-12-11 Sayfa 0
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| 47. | Sotos Syndrome and Nephrocalcinosis, a Rare But Possible Association due to Impact on Contiguous Genes Juan D. González-Rodríguez, Esther Q. Inglés-Torres, José E. Cabrera-Sevilla, Salvador Ibáñez-Micó, Francisca Bermejo-Costa, Ascensión Vera-Carbonell, Juan A. Bafalliu-Vidal, Pedro Cortés-Mora, Ana Lorente-Nicolás, José María Donate-Legaz
doi: 10.4274/jcrpe.galenos.2023.2023-3-11 Sayfa 0
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| 48. | The First Case of 4H Syndrome with Type 1 Diabetes Mellitus Gonul Buyukyilmaz, Busra Erozan Cavdarlı, Keziban Toksoy Adiguzel, Mehmet Adiguzel, Cigdem Seher Kasapkara, Fatih Gurbuz, Mehmet Boyraz, Esra Gurkas
doi: 10.4274/jcrpe.galenos.2023.2023-1-15 Sayfa 0
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| 49. | Worsening of Congenital Hypothyroidism After Start of Carob-bean Gum Thickened Formula: Is There a Link? A Case Report Claudia Signorino, Giovanna Municchi, Marta Ferrari, Stefano Stagi
doi: 10.4274/jcrpe.galenos.2023.2023-9-12 Sayfa 0
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| 50. | A Rare Cause Of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome Duygu Çetinkaya, Gönül Büyükyılmaz, Esra Kılıç
doi: 10.4274/jcrpe.galenos.2024.2024-5-4 Sayfa 0
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| 51. | A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report Ozge Bayrak Demirel, Esin Karakilic-Ozturan, Tugba Atci, Sule Ozturk Sari, Can Baykal, Asli Derya Kardelen Al, Melek Yildiz, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler
doi: 10.4274/jcrpe.galenos.2024.2024-6-25 Sayfa 0
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| 52. | A Rare Presentation of 17α Hydroxylase/17,20 Lyase Deficiency in a Patient with non-Hodgkin’s Lymphoma: A Case Report Niran Tekkeli, Ilknur Kurt, Nevin Yalman, Çetin Timur, Şenol Demir, Elif Sağsak
doi: 10.4274/jcrpe.galenos.2024.2024-3-13 Sayfa 0
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| 53. | Acute Kidney Injury After Thyroid Hormone Withdrawal in an Adolescent with Papillary Thyroid Carcinoma Yavuz Özer, Rüveyda Gülmez, Hande Turan, Gürkan Tarçın, Dilek Bingöl Aydın, Olcay Evliyaoğlu, Oya Ercan
doi: 10.4274/jcrpe.galenos.2024.2023-11-10 Sayfa 0
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| 54. | Adult Outcome After Partial Androgen Insensitivity Syndrome: Diagnosed and Assigned Female in Infancy Peter A Lee
doi: 10.4274/jcrpe.galenos.2024.2023-12-17 Sayfa 0
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| 55. | Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl Han Yi Lin, Ni Chung Lee, Meng Ju Melody Tsai, Ting Ming Wang, Yi Ching Tung
doi: 10.4274/jcrpe.galenos.2024.2024-3-8 Sayfa 0
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| 56. | Clinical and Genetic Characteristics and Outcome in Patients with Neonatal Diabetes Mellitus from a Low Middle-Income Country I. M. Kumarasiri, T. J. Hoole, M. W. A. Nimanthi, I. Jayasundara, R. Balasubramaniam, N. Atapattu
doi: 10.4274/jcrpe.galenos.2024.2024-2-17 Sayfa 0
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| 57. | Exploring Multiple Endocrinological Issues and Dysautonomia in a Rare Case: Hypoparathyroidism in MIRAGE Syndrome Sirmen Kızılcan Çetin, Elif Özsu, Zeynep Şıklar, Hasan Fatih Çakmaklı, Gizem Şenyazar, Zehra Aycan, Serdar Ceylaner, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2024.2023-12-4 Sayfa 0
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| 58. | Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report Jooyoung Jeon, Eu-seon Noh, Il Tae Hwang
doi: 10.4274/jcrpe.galenos.2024.2023-12-12 Sayfa 0
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| 59. | Gonadoblastoma with Dysgerminoma in a Virilized Adolescent with Karyotype 46,XX: A Case Report and Review of the Literature Tuğçe Kandemir, Esin Karakilic Ozturan, Özlem Dural, Ayça Dilruba Aslanger, Elif İnan Balcı, Aysel Bayram, Semen Önder, Aslı Derya Kardelen Al, Melek Yıldız, Şükran Poyrazoğlu, Firdevs Baş, Feyza Darendeliler
doi: 10.4274/jcrpe.galenos.2024.2024-7-18 Sayfa 0
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| 60. | Hereditary Pheochromocytoma as a Main Manifestation of von Hippel Lindau Disease (vHL) in Childhood – A Long-term Follow-up of 5 Patients with vHL from One Family Katarzyna Pasternak-Pietrzak, Agata Kozlowska, Elzbieta Moszczynska
doi: 10.4274/jcrpe.galenos.2024.2024-2-1 Sayfa 0
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| 61. | Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in the INSR Gene Chen Chongyang, Zhao Yangting, Li Kai, Lv Xiaoyu, Wang Yawen, Zhen Donghu, Fu Songbo, Ma Lihua, Zhou Liyuan, Liu Jingfang
doi: 10.4274/jcrpe.galenos.2024.2024-2-14 Sayfa 0
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| 62. | Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 Deletion Elena Lundberg, Magnus Burstedt, Irina Golovleva
doi: 10.4274/jcrpe.galenos.2024.2023-5-15 Sayfa 0
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| 63. | Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and Macroorchidism Yee Lin Lee, Tzer Hwu Ting, Chong Teik Lim, Karuppiah Thilakavathy, Nurul Huda Musa, King Hwa Ling
doi: 10.4274/jcrpe.galenos.2024.2023-12-1 Sayfa 0
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| 64. | Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome and the c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population Yurong Piao, Rongmin Li, Yingjie Wang, Congli Chen, Yanmei Sang
doi: 10.4274/jcrpe.galenos.2024.2023-11-6 Sayfa 0
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| 65. | Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants Fatma Güliz Atmaca, Özlem Akgün Doğan, Büşra Kutlubay, Heves Kırmızıbekmez
doi: 10.4274/jcrpe.galenos.2023.2023-7-1 Sayfa 0
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| 66. | Unraveling the Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies? Case Presentation Sirmen Kizilcan Cetin, Zeynep Siklar, Zehra Aycan, Elif Ozsu, Serdar Ceylaner, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2024.2024-3-5 Sayfa 0
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| EDITÖRE MEKTUP |
| 67. | Involvement of the Endocrine System is Common in Mitochondrial Disorders and Requires Long-term Comprehensive Investigations Josef Finsterer
doi: 10.4274/jcrpe.galenos.2024.2024-8-5 Sayfa 0
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| KISA RAPOR |
| 68. | Iodinated Contrast Induced Hypothyroidism in the Infant After Enteral Contrast Enema: A Case Report and Systematic Review Adinda G.H. Pijpers, Sandra E. Zoetelief, Laurens D. Eeftinck Schattenkerk, Ralph de Vries, Wes Onland, Joost van Schuppen, A.S. Paul van Trotsenburg, L.W. Ernest van Heurn, Joep P.M. Derikx, Nitash Zwaveling-Soonawala, Christiaan F. Mooij
doi: 10.4274/jcrpe.galenos.2024.2023-12-2 Sayfa 0
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| 69. | Making Teachers and School Health Nurses Part of Pediatric Diabetes Teams Şükrü Hatun, Gül Yeşiltepe Mutlu, Gülcan Kılınç, Zehra Aycan
doi: 10.4274/jcrpe.galenos.2024.2024-5-12 Sayfa 0
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| EDITÖRE MEKTUP |
| 70. | In response to: “Involvement of the endocrine system is common in mitochondrial disorders and requires long-term comprehensive investigations” Esra Deniz PAPATYA ÇAKIR, Melike ERSOY, Nihan ÇAKIR BİÇER, Asuman GEDİKBAŞI
doi: 10.4274/jcrpe.galenos.2024.2024-10-2 Sayfa 0
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