| ORIGINAL ARTICLE |
| 1. | 17-Hydroxyprogesterone Response to Standard Dose Synacthene Stımulation Test in CYP21A2 Heterozygous Carriers and Non-Carriers in Symptomatic and Asymptomatic Groups: Meta-Analyses
Seher Polat, Yusuf Kemal Arslan
doi: 10.4274/jcrpe.galenos.2020.2021.0184 Page 0
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| 2. | A 4-hour Profile of 17-hydroxyprogesterone in Salt-wasting Congenital Adrenal Hyperplasia: Is the Serial Monitoring Strategy Worth the Effort?
Özge Besci, İbrahim Mert Erbaş, Tuncay Küme, Kübra Yüksek Acinikli, Ayhan Abacı, Ece Böber, Korcan Demir
doi: 10.4274/jcrpe.galenos.2021.2021-9-17 Page 0
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| 3. | Efficacy of the Novel Degludec/Aspart Insulin Co-formulation in Children and Adolescents with Type 1 Diabetes: A Real-life Experience with 1-year IDeg/Asp Therapy in Poorly Controlled and Non-compliant Patients
Tarik Kirkgoz, Mehmet Eltan, Sare Betul Kaygusuz, Zehra Yavas Abali, Didem Helvacioglu, Tuba Seven Menevse, Busra Gurpinar Tosun, Tulay Guran, Abdullah Bereket, Serap Turan
doi: 10.4274/jcrpe.galenos.2021.2021.0113 Page 0
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| 4. | 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: jcrpe-2019-0024.R2 Page 0
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| 5. | Diagnostic Value of Bilateral Petrosal Sinus Sampling in Children with Cushing’s Disease: A Multi-Center Study
Hande Turan, Gönül Çatlı, Aslı Derya Kardelen, Ece Böber, Ayşehan Akıncı, Semra Çetinkaya, Özgecan Demirbaş, Eren Er, Saadet Olcay Evliyaoğlu, Bumin Dündar, Oya Ercan
doi: 10.4274/jcrpe.galenos.2021.2021.0152 Page 0
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| 6. | Feminizing Adrenocortical Tumors as a Rare Etiology of Iso/Contrasexual Pseudopuberty
Dogus Vuralli, Nazli Gonc, Alev Ozon, Saniye Ekinci, H.serkan Dogan, Serdar Tekgul, Ayfer Alikasifoglu
doi: 10.4274/jcrpe.galenos.2021.2021.0170 Page 0
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| 7. | First Evaluation of P Dispersion and Tp-e Parameters in Electrocardiograms of Children with Diabetic Ketoacidosis
Oğuz Eğil, Fatih Şap, Beray Selver Eklioğlu, Mehmet Burhan Oflaz, Mehmet Emre Atabek, Tamer Baysal
doi: 10.4274/jcrpe.galenos.2021.2021.0165 Page 0
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| 8. | Genetic Indices Relationship to Hyperglycemia-associated Biomarkers: Consistency with miRNA Expression in Egyptian Children with T1D
Naglaa Fathy Barseem, Marwa Mohamed Mahasab, Ibrahem Fathy Zaed, Aya A.eldesoky Said, Eman Masoud Abd El Gayed
doi: 10.4274/jcrpe.galenos.2021.2021.0080 Page 0
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| 9. | Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital perinsulinism
Maryam Razzaghy-azar, Saeedeh Saeedi, Sepideh Borhan Dayani, Samaneh Enayati, Farzaneh Abbasi, Somayyeh Hashemian, Peyman Eshraghi, Siroos Karimdadi, Parisa Tajdini, Rahim Vakili, Mahsa M Amoli, Hanieh Yaghootkar
doi: 10.4274/jcrpe.galenos.2021.2021.0071 Page 0
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| 10. | Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism
Chang-run Zhang, Yuan-ping Shi, Cao-xu Zhang, Feng Sun, Wen-jiao Zhu, Rui-jia Zhang, Ya Fang, Qian-yue Zhang, Chen-yan Yan, Ying-xia Ying, Shuang-xia Zhao, Huai-dong Song
doi: 10.4274/jcrpe.galenos.2021.2021.0122 Page 0
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| 11. | Serum Neudesin Levels in Obese Adolescents
Aliye Celikkol, Cigdem Binay, Ozge Aycicek, Savas Guzel
doi: 10.4274/jcrpe.galenos.2021.2021.0208 Page 0
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| REVIEW |
| 12. | Efficacy and Safety of Letrozole in the Management of Constitutional Delay in Growth and Puberty: A Systematic Review and Meta-analysis
Deep Dutta, Rajiv Singla, Vineet Surana, Meha Sharma
doi: 10.4274/jcrpe.galenos.2021.2021.0169 Page 0
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| 13. | Emergence of Ectopic Adrenal Tissues - What are the Probable Mechanisms?
Gürkan Tarçın, Oya Ercan
doi: 10.4274/jcrpe.galenos.2021.2021.0148 Page 0
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| 14. | Recommendations for Clinical Decision-making in Children with Type 1 Diabetes and Celiac Disease: Type 1 Diabetes and Celiac Disease Joint Working Group Report
Şükrü Hatun, Buket Dalgıç, Damla Gökşen, Sema Aydoğdu, Şenay Savaş Erdeve, Zarife Kuloğu, Yaşar Doğan, Zehra Aycan, Gül Yeşiltepe Mutlu, Nuray Uslu Kızılkan, Alev Keser, Ömer Faruk Beşer, Mehmet Nuri Özbek, Aysun Bideci, Deniz Ertem, Olcay Evliyaoğlu, Beyza Eliuz Tipici, Tuğba Gökçe, Serra Muradoğlu, Orhun Çığ Taşkın, Tuğba Koca, Filiz Tütüncüler, Firdevs Baş, Feyza Darendeliler, Mukadder Ayşe Selimoğlu
doi: 10.4274/jcrpe.galenos.2021.2021.0139 Page 0
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| CASE REPORT |
| 15. | 46, XY Sex Development Defect due to a Novel Homozygous (splice site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report
Nurdan Çiftci, Leman Kayaş, Emine Çamtosun, Ayşehan Akıncı
doi: 10.4274/jcrpe.galenos.2020.2020.0249 Page 0
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| 16. | A Novel Heterozygous ACAN Variant in a Short Patient Born Small for Gestational Age with Recurrent Patellar Dislocation: A Case Report
Su Ji Kim, Jong Seo Yoon, Il Tae Hwang
doi: 10.4274/jcrpe.galenos.2021.2021.0081 Page 0
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| 17. | A Novel mutation in the Thyroglobulin Gene resulting in Neonatal Goiter and Congenital Hypothyroidism in an Eritrean infant
Eve Stern, Nadia Schoenmakers, Adeline K. Nicholas, Eran Kassif, Orit Pinhas Hamiel, Yonatan Yeshayahu
doi: 10.4274/jcrpe.galenos.2021.2020.0278 Page 0
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| 18. | A novel mutation in the TRIP11 gene: Diagnostic approach from relatively common skeletal dysplasias to an extremely rare Odontochondrodysplasia
Burcu Yeter, Ayca Dilruba Aslanger, Gözde Yesil, Nursel H. Elcioglu
doi: 10.4274/jcrpe.galenos.2021.2021.0099 Page 0
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| 19. | A novel SCNN1A variation in a patient with autosomal-recessive pseudohypoaldosteronism type 1
Mohammed Ayed Huneif, Ziyad Hamad Alhazmy, Anas M. Shoomi, Mohammed A. Alghofely, Humariya Heena, Aziza M. Mushiba, Abdulhamid Alsaheel
doi: 10.4274/jcrpe.galenos.2021.2020.0175 Page 0
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| 20. | A Possibly Fatal Outcome of Oral Contraceptive Therapy: Estrogen Triggered Hereditary Angioedema Attack in An Adolescent
Ugur Berkay Balkanci, Demet Demirkol, Gul Yesiltepe Mutlu, Esra Birben, Ozge Soyer, Ozlem Yilmaz, Cansin Sackesen
doi: 10.4274/jcrpe.galenos.2021.2021.0053 Page 0
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| 21. | An Alternative Route of Treatment in Transient Hypothyroxinemia of Prematurity: Rectal Administration of Levothyroxine
Duygu Tunçel, Zeynep İnce, Erhan Aygün, Asuman Çoban
doi: 10.4274/jcrpe.galenos.2021.2021.0153 Page 0
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| 22. | Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and hypergonadotropic hypogonadism
Malgorzata A. Krawczyk, Malgorzata Styczewska, Dorota Birkholz-walerzak, Mariola Iliszko, Beata S. Lipska-zietkiewicz, Wojciech Kosiak, Ninela Irga-jaworska, Ewa Izycka-swieszewska, Ewa Bien
doi: 10.4274/jcrpe.galenos.2021.2021.0151 Page 0
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| 23. | Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, Who Had Congenital Hypothyroidism as the First Manifestation
Somboon Wankanit, Pat Mahachoklertwattana, Thipwimol Tim-aroon, Kinnaree Sorapipatcharoen, Preamrudee Poomthavorn
doi: 10.4274/jcrpe.galenos.2021.2021.0141 Page 0
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| 24. | Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment
Tuğba Kontbay, Zeynep Şıklar, Serdar Ceylaner, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2021.2020.0273 Page 0
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| 25. | Clinical features in patients with Xq23 microdeletion: A case report and literature review (Xq23 microdeletions)
Qın Lu, Zhang Fei-zhou, Lv Jian-hai, Tang Lan-fang
doi: 10.4274/jcrpe.galenos.2020.2020.0100 Page 0
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| 26. | Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny- Caffey Syndrome Type 2
Erdal Eren, Havva Tezcan Unlu, Serdar Ceylaner, Omer Tarim
doi: 10.4274/jcrpe.galenos.2021.2020.0315 Page 0
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| 27. | Congenital Hyperinsulinism and Maple Syrup Urine Disease A Challenging Combination
Azza Al Shidhani, Abdulhamid Al Hinai, Khalid Al Thihli, Hilal Al Mandhari, Saif Al Yaarubi, Irfan Ullah, Nadia Al- Hashmi, Fathiya Al Murshedi
doi: 10.4274/jcrpe.galenos.2021.2021.0173 Page 0
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| 28. | DIFFERENTIAL DIAGNOSIS OF ACROMEGALY: PACHYDERMOPERIOSTOSIS TWO NEW CASES, TURKEY
Emine Kartal Baykan, Ayberk Türkyılmaz
doi: 10.4274/jcrpe.galenos.2021.2020.0301 Page 0
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| 29. | Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases
Zeynep Şıklar, Tuğba Kontbay, Kevin Colclough, Kashyap A Patel, Merih Berberoğlu
doi: 10.4274/jcrpe.galenos.2021.2021.0110 Page 0
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| 30. | GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development; Review of The Literature
Nurullah Çelik, Hande Küçük Kurtulgan, Fatih Kılıçbay, Gaffari Tunç, Ayça Kömürlüoğlu, Onur Taşcı, Cemile Ece Çağlar Şimşek, Taha Çınar, Yeşim Sıdar Duman
doi: 10.4274/jcrpe.galenos.2021.2021.0112 Page 0
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| 31. | Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome in two siblings; same mutation but different clinical manifestations at onset
Gulay Karaguzel, Recep Polat, Mehtap H Abul, Alper Han Cebi, Fazil Orhan
doi: 10.4274/jcrpe.galenos.2021.2021.0005 Page 0
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| 32. | Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia
Ana Castellano-martinez, Silvia Acuñas-soto, Virginia Roldan-cano, Moises Rodriguez-gonzalez
doi: 10.4274/jcrpe.galenos.2021.2020.0287 Page 0
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| 33. | Liraglutide Treatment Experience in Morbid Obese Adolescent with a MC4R Gene Variant: Side Effects Reduce Success
Emine Çamtosun, Ayşehan Akıncı, Leman Kayaş, Nurdan Çiftçi, İbrahim Tekedereli
doi: 10.4274/jcrpe.galenos.2021.2021.0158 Page 0
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| 34. | Long-term Follow-up of a Toddler with Papillary Thyroid Carcinoma: A Case Report with a Literature Review of Patients Under 5 Years of Age
Ayşe Pınar Öztürk, Esin Karakılıç Özturan, Feryal Gün Soysal, Seher Ünal, Göknur Işık, Gülçin Yegen, Semen Önder, Melek Yıldız, Şükran Poyrazoğlu, Firdevs Baş, Feyza Darendeliler
doi: 10.4274/jcrpe.galenos.2020.2020.0178 Page 0
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| 35. | Maltodextrin May Be a Promising Treatment Modality After Near-total Pancreatectomy in Infants Younger Than Six Months with Persistent Hyperinsulinism: A Case Report
Yasemin Denkboy Ongen, Erdal Eren, Halil Saglam
doi: 10.4274/jcrpe.galenos.2021.2021.0121 Page 0
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| 36. | Menstrual Suppression in Gender Minority Youth
Sinem Akgül, Zeynep Tüzün, Melis Pehlivantürk Kızılkan, Zeynep Alev Ozon
doi: 10.4274/jcrpe.galenos.2021.2020.0283 Page 0
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| 37. | Nephrogenic Syndrome of Inappropriate Antidiuresis Mimicking Hyporeninemic Hypoaldosteronism: Case Report of Two Infants
Jamala Mammadova, Cengiz Kara, Eda Çelebi Bitkin, Elif İzci Güllü, Murat Aydın
doi: 10.4274/jcrpe.galenos.2021.2021.0191 Page 0
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| 38. | Non-hormonal Clitoromegaly due to Clitoral Priapism Caused by Appendicitis/Appendectomy
Busra Gurpinar Tosun, Ahsen Karagozlu Akgul, Eda Almus, Sadik Abidoglu, Serap Turan, Abdullah Bereket, Tulay Guran
doi: 10.4274/jcrpe.galenos.2021.2021-8-4 Page 0
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| 39. | Novel Homozygous Nonsense Mutation in LRP5 Gene in Two Siblings with Osteoporosispseudoglioma Syndrome
Abolfazl Heidari, Ali Homaei, Fatemeh Saffari
doi: 10.4274/jcrpe.galenos.2021.2021.0186 Page 0
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| 40. | Precocious pseudo-puberty in a 2-year-old girl, presenting with bilateral ovarian enlargement and progressing to unilateral juvenile granulosa cell tumour
Hager Barakizou, Souha Gannouni, Thouraya Kamoun, Muhammed Mehdi, Fernanda Amary, Zilla Huma, Anne- Laure Todeschini, Reiner Veitia, Malcolm Donaldson
doi: 10.4274/jcrpe.galenos.2021.2020.0039 Page 0
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| 41. | Primary Thyroid Diffuse Large B-cell Lymphoma in a Child with Hashimoto’s Thyroiditis: A Case Report
Maria Xatzipsalti, Evangelos Bourousis, Maria Nikita, Dimitra Rontogianni, Myrsini. G. Gkeli, Dionisios Chrysis, Aristeidis Giannakopoulos, Dimitrios Delis, Margarita Baka, Andriani Vazeou
doi: 10.4274/jcrpe.galenos.2021.2021.0140 Page 0
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| 42. | Prolyl Endopeptidase-like (PREPL) Deficiency Associated with Growth Hormone Deficiency: Case Report
Laura Sayol-torres, Maria Irene Valenzuela, Rosangela Tomasini, Paula Fernández-alvarez, Maria Clemente, Diego Yeste
doi: 10.4274/jcrpe.galenos.2021.2021.0128 Page 0
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| 43. | Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review
Isabel Inácio, Joana Serra-caetano, Rita Cardoso, Isabel Dinis, Alice Mirante
doi: 10.4274/jcrpe.galenos.2021.2021.0174 Page 0
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| 44. | SILENT CORTICOTROPH TUMOR WITH ADRENOCORTICAL CHORISTOMA IN AN ELEVEN-YEAR-OLD BOY
Hande Turan, Gürkan Tarçın, Özgür Mete, Ada Bulut Sinoplu, Saadet Olcay Evliyaoğlu, Büge Öz, Oya Ercan
doi: 10.4274/jcrpe.galenos.2021.2020.0258 Page 0
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| 45. | Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation
Aleksandra Rojek, Beata Wikiera, Anna Noczynska, Marek Niedziela
doi: 10.4274/jcrpe.galenos.2021.2021.0256 Page 0
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| 46. | The Successful Treatment of Deep Soft-tissue Calcifications with Topical Sodium Thiosulphate and Acetazolamide in a Boy with Hyperphosphatemic Familial Tumoral Calcinosis due to a Novel Mutation in FGF23
Hakan Doneray, Ayse Ozden, Kadri Gurbuz
doi: 10.4274/jcrpe.galenos.2021.2020.0269 Page 0
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| 47. | TRMT10A mutation in a child with diabetes, short stature, microcephaly and hypoplastic kidneys
Eve Stern, Asaf Vivante, Ortal Barel, Yael Levy-shraga
doi: 10.4274/jcrpe.galenos.2020.2020.0265 Page 0
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| 48. | TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review
Leman Kayaş, Emine Çamtosun, Ayşehan Akıncı, Rifat Bircan
doi: 10.4274/jcrpe.galenos.2020.2020.0229 Page 0
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| 49. | Using Etomidate in a 2-month-old Infant with Cushing Syndrome due to Adrenocortical Carcinoma
Ahreum Kwon, Yongha Choi, Jo Won Jung, Junghwan Suh, Ho-seong Kim
doi: 10.4274/jcrpe.galenos.2020.2020.0164 Page 0
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| 50. | Vasculitis-like Palpable Purpuric Rush Induced by Decapeptyl in a Pediatric Patient Diagnosed Central Precocious Puberty: A Pediatric Case
Nilufer Galip, Nermin Ankay, Ruveyde Bundak
doi: 10.4274/jcrpe.galenos.2021.2021.0205 Page 0
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| 51. | Weight Loss during Topiramate Treatment in a Severely Obese Adolescent with Congenital Adrenal Hyperplasia and Migraine
Amy Seagroves, Heather M. Ross, Alaina P. Vidmar, Mitchell E. Geffner, William S. Kim, Darryl Hwang, Claudia Borzutzky, Nicole R. Fraga, Mimi S. Kim
doi: 10.4274/jcrpe.galenos.2021.2020.0310 Page 0
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| BRIEF REPORT |
| 52. | Comparison of Indonesian Growth Reference Chart and World Health Organization Child Growth Standard in Detecting Stunting: A Systematic Review and Meta-Analysis of 15,874 Children
Gilbert Sterling Octavius, Chelsea Serena Br. Pardede, Cindy Clarissa Thandy, Clauvinna Adhityana Lie Fisca, Andry Juliansen
doi: 10.4274/jcrpe.galenos.2021.2021-8-12 Page 0
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