ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 15 Issue: 4 Year: 2023
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Ahead of Print - JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY

Ahead of Print

EDITORIAL
1.Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges
Matthijs E.T. Freund, Floor van der Most, W. Edward Visser
doi: 10.4274/jcrpe.galenos.2024.2024-1-23  Page 0
Abstract |Full Text PDF

ORIGINAL ARTICLE
2.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  Page 0

3.Association of Vitamin D Deficiency and Vitamin D Receptor Gene Polymorphisms with Type 1 Diabetes Risk: A South Indian Familial Study
Ramasamy Thirunavukkarasu, Ayyappan Chitra, Arthur Asirvatham, Mariakuttikan Jayalakshmi
doi: 10.4274/jcrpe.galenos.2023.2023-12-7  Page 0

4.Cardiovascular Risk Factors in Adolescents with Type 1 Diabetes: Prevalence and Gender Differences
Dogus Vuralli, Lala Jalilova, Ayfer Alikasifoglu, Z. Alev Ozon, E. Nazli Gonc, Nurgun Kandemir
doi: 10.4274/jcrpe.galenos.2023.2023-12-12  Page 0

5.Childhood Obesity as a Global Problem: A Cross-sectional Survey on Global Awareness and National Program Implementation
Aman B Pulungan, Helena A Puteri, Amajida F Ratnasari, Hilary Hoey, Agustini Utari, Feyza Darendeliler, Basim Al-Zoubi, Dipesalema Joel, Arunas Valiulis, Jorge Cabana, Enver Hasanoglu, Naveen Thacker, Mychelle Farmer
doi: 10.4274/jcrpe.galenos.2023.2023-7-5  Page 0

6.Clinical Variability in a Noonan Syndrome Family with a Homozygous PTPN11 Gene Variant in Two Individuals
Ruken Yıldırım, Edip Unal, Şervan Özalkak, Akçahan Akalın, Ayça Aykut, Nevzat Yılmaz
doi: 10.4274/jcrpe.galenos.2023.2023-5-16  Page 0

7.Effect of ACTH Stimulation on Ischemia-Modified Albumin Levels in vivo
Nursel Muratoglu Sahin, Senem Esen, Senay Savas Erdeve, Salim Neselioglu, Ozcan Erel, Semra Cetinkaya
doi: 10.4274/jcrpe.galenos.2023.2023-5-22  Page 0

8.Minipuberty in Male Full-term Neonates Appropriate and Small for Gestational Age and in Preterm Babies: Data From a Single Centre
Alessandra Boncompagni, Elisa Pietrella, Erica Passini, Chiarina Grisolia, Mara Tagliazucchi, Enrico Tagliafico, Licia Lugli, Alberto Berardi, Lorenzo Iughetti, Laura Lucaccioni
doi: 10.4274/jcrpe.galenos.2023.2023-4-9  Page 0

9.Neurodevelopmental Outcome of the Infants with Transient Hypothyroxinemia of Prematurity in Newborn Intensive Care Unit
Erhan Aygun, Seda Yilmaz Semerci, Adviye Cakil Saglik, Emine Yurdakul Erturk
doi: 10.4274/jcrpe.galenos.2023.2023-6-5  Page 0

10.Relationship of Glucagon-like Peptide 1 and Peptide YY with Catch-up Growth in Children Born Small for Gestational Age
Li Wang, Zhe Su, Yu Chuan Li, Bing Yan Cao, Chang Su, Chun Xiu Gong
doi: 10.4274/jcrpe.galenos.2023.2023-5-21  Page 0

11.Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus
Enver Şimşek, Oguz Cilingir, Tulay Simsek, Sinem Kocagil, Ebru Erzurumluoglu Gokalp, Meliha Demiral, Cigdem Binay
doi: 10.4274/jcrpe.galenos.2023.2023-5-10  Page 0

12.Serum Ghrelin and Glukagon-like Peptid 1 Levels in Children with Prader-Willi and Bardet-Biedl Syndromes
Doga Turkkahraman, Suat Tekin, Merve Gullu, Guzin Aykal
doi: 10.4274/jcrpe.galenos.2023.2023-7-7  Page 0

13.SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries
Priyanka Srivastava, Ankita Tyagi, Chitra Bamba, Anu Kumari, Harvinder Kaur, Saurabh Seth, Anupriya Kaur, Inusha Panigrahi, Devi Dayal, Subhodip Pramanik, Kausik Mandal
doi: 10.4274/jcrpe.galenos.2023.2023-3-13  Page 0

14.Assessment of Executive Function Skills in Children with Isolated Growth Hormone Deficiency: A Cross-sectional Study
Gülsüm YİTİK TONKAZ, Atilla ÇAYIR
doi: 10.4274/jcrpe.galenos.2024.2023-10-6  Page 0

15.Associations of Adipocyte-Derived Versican and Macrophage-Derived Biglycan with Body Adipose Tissue and Hepatosteatosis in Obese Children
Reyhan DEVECİ SEVİM, Mustafa GÖK, Özge ÇEVİK, Ömer ERDOĞAN, Sebla GÜNEŞ, Tolga ÜNÜVAR, Ahmet ANIK
doi: 10.4274/jcrpe.galenos.2024.2023-9-18  Page 0

16.Evaluating Postoperative Outcomes and Investigating the Usefulness of EU-TIRADS Scoring in Managing Pediatric Thyroid Nodules Bethesda 3 and 4
Aylin Kılınç Uğurlu, Abdurrahman Bitkay, Fatih Gürbüz, Esra Karakuş, Gülşah Bayram Ilıkan, Çağrı Damar, Seda Şahin, Merve Meryem Kıran, Nedim Gülaldı, Müjdem Nur Azılı, Emrah Şenel, İnci Ergürhan İlhan, Mehmet Boyraz
doi: 10.4274/jcrpe.galenos.2024.2023-8-12  Page 0

17.Microcephaly in Infants: A Retrospective Cohort Study from Türkiye
Gonca Keskindemirci, Öykü Özbörü Aşkan, Burak Selver, Alev Bakır Kayı, Gülbin Gökçay
doi: 10.4274/jcrpe.galenos.2024.2023-5-3  Page 0

18.Non-thyroidal Illness in Children with Congestive Heart Failure
Biswajit Sahoo, Aashima Dabas, Binita Goswami, Anurag Agarwal, Sumod Kurian
doi: 10.4274/jcrpe.galenos.2024.2023-12-7  Page 0

19.Salivary Sex Steroid Levels in Infants and Their Relation with Infantile Colic
Fulya Mete Kalaycı, Özlem Gürsoy, İbrahim Mert Erbaş, Osman Tolga İnce, Makbule Neslişah Tan, Adem Aydın, Ayhan Abacı, Ece Böber, Korcan Demir
doi: 10.4274/jcrpe.galenos.2024.2023-11-2  Page 0

REVIEW
20.Bone Phenotype is Always Present; Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency
Didem Helvacioglu, Tulay Guran
doi: 10.4274/jcrpe.galenos.2023.2023-12-10  Page 0

21.Extensive Literature Review of 46, XX Newborns with Congenital Adrenal Hyperplasia (CAH) and Severe Genital Masculinization: Should They be Assigned and Reared Male?
Tom Mazur, Jennifer O’donnell, Peter A Lee
doi: 10.4274/jcrpe.galenos.2023.2023-10-17  Page 0

CASE REPORT
22.A Case of Diabetes Mellitus Type MODY5 as a feature of 17q12 Deletion Syndrome
Hümeyra Yaşar Köstek, Fatma Özgüç Çömlek, Hakan Gürkan, Emine Neşe Özkayın, Filiz Tütüncüler Kökenli
doi: 10.4274/jcrpe.galenos.2022.2022-3-2  Page 0

23.A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey
Elif Söbü, Gül Demet Kaya Özçora, Elif Yılmaz Güleç, Bahtiyar Şahinoğlu, Feride Tahmiscioğlu Bucak
doi: 10.4274/jcrpe.galenos.2022.2022-8-12  Page 0

24.A Novel KISS1R Loss-of-Function Variant in a Chinese Child with Congenital Hypogonadotropic Hypogonadism
Peng Zhou, Jin Wu
doi: 10.4274/jcrpe.galenos.2022.2022-3-18  Page 0

25.Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report
Takahide Kokumai, Shigeru Suzuki, Noriko Nishikawa, Hinako Yamamura, Tokuo Mukai, Yusuke Tanahashi, Satoru Takahashi
doi: 10.4274/jcrpe.galenos.2022.2022-4-11  Page 0

26.Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome
Ángela Ascaso, Ana Latorre-pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo, Ilaria Parenti, Elena Llorente, Juan José Puente-lanzarote, Ángel Matute-llorente, Ariadna Ayerza-casas, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié, Gloria Bueno-lozano
doi: 10.4274/jcrpe.galenos.2022.2022-4-14  Page 0

27.Gastroparesis in Adolescent Patient with Type 1 Diabetes: Severe Presentation of a Rare Pediatric Complication
Fortunato Lombardo, Bruno Bombaci, Stefano Costa, Mariella Valenzise, Nino Giannitto, Davide Cardile, Sergio Baldari, Giuseppina Salzano, Stefano Passanisi
doi: 10.4274/jcrpe.galenos.2022.2022-5-20  Page 0

28.Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency
Mark R. Garrelfs, Tuula Rinne, Jacquelien J. Hillebrand, Peter Lauffer, Merijn W. Bijlsma, Hedi L. Claahsen-van Der Grinten, Nicole De Leeuw, Martijn J.J. Finken, Joost Rotteveel, Nitash Zwaveling-soonawala, Max Nieuwdorp, A.S. Paul van Trotsenburg, Christiaan F. Mooij
doi: 10.4274/jcrpe.galenos.2022.2022-3-4  Page 0

29.Juvenile Granulosa Cell Tumor Mimicking HAIR-AN in a 4-Year-Old: A Case Report
Rachel Choe Kim, Iliya Goldberg, Trevor Van Brunt, Hamama Tul-Bushra, Rebecca Batiste, Andrew H. Lane, Helen Hsieh
doi: 10.4274/jcrpe.galenos.2022.2022-4-17  Page 0

30.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  Page 0

31.Long-term Survival in a Child with Malignant Insulinoma After Liver Transplantation
Elzbieta Moszczynska, Arnika Wydra, Klaudia Zasada, Marta Bazsynka-wilk, Dorota Majak, Anna Sliwinska, Wieslawa Grajkowska
doi: 10.4274/jcrpe.galenos.2022.2022-3-5  Page 0

32.Mitotically Active Follicular Nodule in Early Childhood: A Case Report with A Novel Mutation in the Thyroglobulin Gene
Sirmen Kizilcan Cetin, Zehra Aycan, Zeynep Siklar, Serpil Dizbay Sak, Serdar Ceylaner, Elif Ozsu, Merih Berberoglu
doi: 10.4274/jcrpe.galenos.2022.2022-8-20  Page 0

33.Painless Footdrop in a Child with Newly Diagnosed Type 1 Diabetes Mellitus: Case Report
Maryam Jafari, Ahmedyar Hasan, Jessie Joseph, Manal Mustafa, Samar AlMuntaser
doi: 10.4274/jcrpe.galenos.2022.2022-6-22  Page 0

34.Stress Induced Hyperglycemia in Early Childhood as a Clue for the Diagnosis of NEUROD1-MODY
Nur Berna Celik, Naz Güleray Lafcı, Senay Savas-Erdeve, Semra Cetinkaya
doi: 10.4274/jcrpe.galenos.2022.2022-6-15  Page 0

35.Successful Management of Severe Hypercalcemia with Zoledronic Acid: A Report of Two Pediatric Cases
Fatih Kilci, Jeremy Huw Jones, Filiz Mine Çizmecioğlu-jones
doi: 10.4274/jcrpe.galenos.2022.2022-9-3  Page 0

36.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  Page 0

37.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  Page 0

38.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  Page 0

39.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  Page 0

40.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  Page 0

41.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  Page 0

42.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  Page 0

43.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  Page 0

44.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  Page 0

45.Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric CYP11B2/CYP11B1 Gene
Wenjuan Cai, Dan Yu, Jian Gao, Qian Deng, Huihui Lin, Yuqing Chen
doi: 10.4274/jcrpe.galenos.2023.2023-9-13  Page 0

46.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  Page 0

47.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  Page 0

48.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  Page 0

49.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  Page 0

50.Elemental Milk Formula as a Possible Cause of Hypophosphatemic Rickets in Wiedemann-Steiner Syndrome
Fahad Al Juraibah, Maali Melha, Azam Alromaih, Areej Al-sunaid, Hamad Abdullah Alkhalaf
doi: 10.4274/jcrpe.galenos.2022.2022-8-23  Page 0

51.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  Page 0

52.Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency
Yağmur Ünsal, Gamze Hayran
doi: 10.4274/jcrpe.galenos.2023.2023-10-1  Page 0

53.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  Page 0

54.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  Page 0

55.Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl
Merve Yoldas Celik, Ebru Canda, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu, Ayca Aykut, Asude Durmaz, Ahmet Anik, Sema Kalkan Ucar, Mahmut Coker
doi: 10.4274/jcrpe.galenos.2022.2022-2022-9-12  Page 0

56.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  Page 0

57.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  Page 0

58.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  Page 0

59.Sepsis-induced Pancytopenia in an Adolescent Girl with Thyroid Storm: A Case Report
Qing Zhou, Li-Yong Zhang, Qing-Xian Fu, Chao-Chun Zou, Hui Liu
doi: 10.4274/jcrpe.galenos.2023.2022-10-3  Page 0

60.Severe Growth Hormone Deficiency in an Indian Boy Caused By a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene
Basma Haris, Idris Mohammed, Umm-kulthum Ismail Umlai, Diksha Shirodkar, Khalid Hussain
doi: 10.4274/jcrpe.galenos.2022.2022-5-9  Page 0

61.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  Page 0

62.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  Page 0

63.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  Page 0

64.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  Page 0

65.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  Page 0

66.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  Page 0

67.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  Page 0

LETTER TO THE EDITOR
68.Vitamin D Receptor Gene Polymorphisms with Type 1 Diabetes Risk: Correspondence
Hinpetch Daungsupawong, Viroj Wiwanitkit
doi: 10.4274/jcrpe.galenos.2023.2023-9-8  Page 0
Abstract |Full Text PDF

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