Journal of Clinical Research in Pediatric Endocrinology

Papers
(The median citation count of Journal of Clinical Research in Pediatric Endocrinology is 1. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-05-01 to 2025-05-01.)
ArticleCitations
Congenital Adrenal Hyperplasia and Adrenal Insufficiency in Children: An Evidence-based Review with Good Practice Points by Adrenal Working Group of The Turkish Society for Pediatric Endocrinology and42
Midkine: Utility as a Predictor of Early Diabetic Nephropathy in Children with Type 1 Diabetes Mellitus27
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 Children25
Erratum21
Assessment of Executive Function Skills in Children with Isolated Growth Hormone Deficiency: A Cross-sectional Study14
Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year14
Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin11
Important Tools for Use by Pediatric Endocrinologists in the Assessment of Short Stature11
Fibroblast Growth Factor 21 Levels and Bone Mineral Density in Metabolically Healthy and Metabolically Unhealthy Obese Children10
Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus10
The First Case of 4H Syndrome with Type 1 Diabetes Mellitus10
Iodinated Contrast Induced Hypothyroidism in the Infant After Enteral Contrast Enema: A Case Report and Systematic Review9
Current Treatments for Patients with Genetic Obesity9
Novel Modified Algorithm for High Fat/High Energy Density Meal in Type 1 Diabetes: Less Hypoglycemia9
The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth9
Peak Serum Cortisol Cutoffs to Diagnose Adrenal Insufficiency Across Different Cortisol Assays in Children9
Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in <i>CYP11B2</i>8
Neurodevelopmental Outcome of the Infants with Transient Hypothyroxinemia of Prematurity in Newborn Intensive Care Unit8
Could MOTS-C Levels in Children with Type 1 Diabetes Mellitus Be an İndicator for Early Diabetic Kidney Disease?8
An Evaluation of Glucagon Injection Anxiety and Its Association with the Fear of Hypoglycemia among the Parents of Children with Type 1 Diabetes8
An Estimation of the Incidence of Thyroiditis Among Girls in Primary Care in Spain7
17-Hydroxyprogesterone Response to Standard Dose Synacthene Stımulation Test in CYP21A2 Heterozygous Carriers and Non-Carriers in Symptomatic and Asymptomatic Groups: Meta-Analyses7
Elevated Pre-injection Basal Luteinizing Hormone Concentrations are Common in Girls Treated for Central Precocious Puberty7
Recommendations for Clinical Decision-making in Children with Type 1 Diabetes and Celiac Disease: Type 1 Diabetes and Celiac Disease Joint Working Group Report7
A Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-Reductase type 2 Deficiency6
A Long-term Follow-up of a Late Diagnosed Patient with Temple Syndrome – a Case Report6
Insulinoma Associated with MEN1 Syndrome: A Case of Persistent Hypoglycemia in School-aged Child6
Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome6
Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases6
Continuous Glucose Monitoring in Children and Adolescents with Congenital Adrenal Hyperplasia6
Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency6
A Boy with Reset Osmostat Who Developed Chronic Hyponatremia due to Hypothalamic Injury Caused by a Giant Arachnoid Cyst6
Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and Macroorchidism6
Diagnostic Power of Bilateral Inferior Petrosal Sinus Sampling with Desmopressin in Paediatric Cushing’s Disease6
Painless Footdrop in a Child with Newly Diagnosed Type 1 Diabetes Mellitus: Case Report6
Compound Heterozygous Variants in FAM111A Cause Autosomal Recessive Kenny-Caffey Syndrome Type 26
A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 16
Thyroid Function in 509 Premature Newborns Below 31 Weeks of Gestational Age: Evaluation and Follow-up6
Pituitary Stalk Interruption Syndrome – Clinical Presentation and Management of a Potentially Life-threatening Disease in Newborns6
Central Precocious Puberty in a Boy with Pseudohypoparathyroidism Type 1A due to a Novel GNAS Variant, with Congenital Hypothyroidism as the First Manifestation6
GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature6
Cabergoline Induced Pathological Gambling in an Adolescent with Prolactinoma5
The Incidence Trend of Type 1 Diabetes among Children and Adolescents 0-14 Years of Age in the West, South, and Tripoli Regions of Libya (2009-2018)5
Is Automated Insulin Delivery System Therapy Safe and Effectıve in Children Under 7 Years Old?5
Assessment of Quadriceps Muscle Strength and Thickness in Adolescents with Polycystic Ovary Syndrome: A Case-control and Longitudinal Follow-up Study5
The Impact of the CEDD-NET on the Evaluation of Rare Disorders: A Multicenter Scientific Research Platform in the Field of Pediatric Endocrinology5
Machine Learning-driven Identification of the Honeymoon Phase in Pediatric Type 1 Diabetes and Optimizing Insulin Management5
Letter to the Editor Regarding “Comparison of Commonly Used Methods to Predict the Final Height in Constitutional Tall Stature”5
Long-term Follow-up of a Toddler with Papillary Thyroid Carcinoma: A Case Report with a Literature Review of Patients Under 5 Years of Age5
Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency5
The Causes and Diagnosis of Non-congenital Adrenal Hyperplasia Primary Adrenal Insufficiency in Children4
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?4
Clinical Characteristics and Genetic Analyses of Patients with Idiopathic Hypogonadotropic Hypogonadism4
TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review4
Liraglutide Treatment Improves Glycaemic Dysregulation, Body Composition, Cardiometabolic Variables and Uncontrolled Eating Behaviour in Adolescents with Severe Obesity4
Vitamin D Deficiency Prevalence in Late Neonatal Hypocalcemia: A Multicenter Study4
Elemental Milk Formula as a Possible Cause of Hypophosphatemic Rickets in Wiedemann-Steiner Syndrome4
Effects of Blue Light on Puberty and Ovary in Female Rats4
Cord Blood Levels of Spexin, Leptin, and Visfatin in Term Infants Born Small, Appropriate, and Large for Gestational Age and Their Association with Newborn Anthropometric Measurements4
How Vitamin D Levels of Children Changed During COVID-19 Pandemic: A Comparison of Pre-pandemic and Pandemic Periods4
Vasculitis-like Palpable Purpuric Rash Induced by Decapeptyl in a Pediatric Patient Diagnosed Central Precocious Puberty4
Psychosocial Development, Sexuality and Quality of Life in Congenital Adrenal Hyperplasia4
Two Subsequent Metachroneus Solid Tumors: Oncocytic Variant Adrenocortical Carcinoma and Rhabdomyosarcoma of Childhood: Case Report and Literature Review4
Epicardial and Perihepatic Fat as Cardiometabolic Risk Predictors in Girls with Turner Syndrome: A Cardiac Magnetic Resonance Study4
Erratum4
Serum Neudesin Levels in Patients with Congenital Hypothyroidism4
Predictors and Trends of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes Mellitus in Malaysian Children4
Adverse Events Associated with COVID-19 Vaccination in Adolescents with Endocrinological Disorders: A Cross-Sectional Study4
A Long-Term Comparison of Presenting Characteristics of Children with Newly Diagnosed Type 1 Diabetes Before and During the COVID-19 Pandemic4
An Alternative Route of Treatment in Transient Hypothyroxinemia of Prematurity: Rectal Administration of Levothyroxine4
Association of Vitamin D Deficiency and Vitamin D Receptor Gene Polymorphisms with Type 1 Diabetes Risk: A South Indian Familial Study3
Diagnostic Value of Bilateral Petrosal Sinus Sampling in Children with Cushing Disease: A Multi-center Study3
The Relationship Between Premature Adrenarche and Platelet Aggregation3
Children with Newly Diagnosed Type 1 Diabetes Before and During the COVID-19 Pandemic3
46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case Report3
Letter to: Endocrinological Approach to Adolescents with Gender Dysphoria: Experience of a Pediatric Endocrinology Department in a Tertiary Center in Turkey3
Silent Corticotroph Tumor with Adrenocortical Choristoma in an Eleven-year-old Boy3
A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey3
A Boy with 46,XX Karyotype (SRY double-positive) having a Leydig Cell Tumor3
Atypical Presentation and Course of ACTH-independent Cushing’s Syndrome in Two Families3
A Long-Term Comparison of Presenting Characteristics of Children with Newly Diagnosed Type 1 Diabetes Before and During the COVID-19 Pandemic3
Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl3
Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis3
Permanent Neonatal Diabetes with High Insulin Requirements Due to a New Variant in the INS Gene3
Is Bioavailable Vitamin D Better Than Total Vitamin D to Evaluate Vitamin D Status in Obese Children?3
Reversibility of Hyperglycemic States in Children with Obesity-Diagnostic Pitfalls in the Assessment of Glucose Metabolism in Children and Adolescents with Obesity3
Tumor-induced Osteomalacia in a Boy with Maxillary Ossifying Fibroma3
Normative Values for Thyroid Volume and Tracheal Index in Healthy Turkish Newborns in an Iodine Sufficient Region3
Triglyceride Glucose Index as a Surrogate Measure of Insulin Sensitivity in a Caucasian Pediatric Population3
Body Composition Changes and Catch-up Growth in Pre-pubertal Children with Short Stature: A Longitudinal Retrospective Cross-sectional Cohort Study3
Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children3
Comparison of Optical Coherence Tomography Angiography Findings between Healthy Children and Children with Type 1 Diabetes Mellitus and Autoimmune Thyroiditis3
Co-existence of Congenital Adrenal Hyperplasia and Familial Hypokalemic Periodic Paralysis due to CYP21A2 and SCN4A Pathogenic Variants3
Letter to the Editor Regarding “Effect of Propolis on Precocious Puberty in Female Rats” - Does Propolis Induce Thelarche and Gynecomastia in Prepubertal Children?3
Vitamin D Deficiency Prevalence in Late Neonatal Hypocalcemia: A Multicenter Study3
Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency3
Worsening of Congenital Hypothyroidism After Start of Carob-bean Gum Thickened Formula: Is There a Link? A Case Report3
Vitamin D Status in an Italian Pediatric Cohort: Is There a Role for Tobacco Smoking Exposure?3
Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a <i>COL1A1</i> Variant3
A Rare Case of Monogenic Obesity due to a Novel Variant in the ADCY3 Gene: Challenges in Follow-up and Treatment3
What to Do for Atypia of Uncertain Significance in Pediatric Thyroid Nodules?3
Evaluation of Glucose Metabolism and Cardiovascular Risk Factors in Prepubertal Girls with Premature Pubarche3
Analysis of the Performance of Neck Circumference to Identify Overweight and Obese Children3
Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation2
Neurodevelopmental Disorders, Cognitive Functions, and Quality of Life in Children with Congenital Hypothyroidism in a Portuguese Population2
Familial Clinical Heterogeneity of Medullary Thyroid Cancer with Germline RET S891A Protooncogene Mutation: 7-Year Follow-up with Successful Sorafenib Treatment2
Triglyceride Glucose Index is Associated with Ultrasonographic Fatty Liver Indicator in Children and Adolescents with Non-alcoholic Fatty Liver Disease2
Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment2
Continuous Glucose Monitoring Systems and the Efficacy of Acarbose Treatment in Cystic Fibrosis-related Dysglycemia2
Long-term Survival in a Child with Malignant Insulinoma After Liver Transplantation2
Analysis of Apoptotic, Clinical, and Laboratory Parameters in Type 1 Diabetes and Early Diabetic Nephropathy: Clustering and Potential Groups Evaluation for Additional Therapeutic Interventions2
Adult Outcome After Partial Androgen Insensitivity Syndrome: Diagnosed and Assigned Female in Infancy2
Frequency of “PCOS” and “Being at Risk for PCOS” in Obese Adolescent Girls in Light of Current Definitions2
Efficacy of Glucagon-like Peptide-1 Receptor Agonists in Overweight/Obese and/or T2DM Adolescents: A Meta-analysis Based on Randomized Controlled Trials2
Pulse Wave Analysis in Obese Children with and without Metabolic Syndrome2
Hyperinsulinemia in Sotos Syndrome with a de novo NSD1 Deletion2
Basal Serum Thyroxine Level should Guide Initial Thyroxine Replacement Dose in Neonates with Congenital Hypothyroidism2
Rare Coexistence of Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency and Turner Syndrome: A Case Report and Brief Literature Review2
Involvement of the Endocrine System is Common in Mitochondrial Disorders and Requires Long-term Comprehensive Investigations2
Evaluation of Abnormal Uterine Bleeding in Adolescents: Single Center Experience2
Gender Difference and Changes in the Prevalence of Obesity Over Time in Children Under 12 Years Old: A Meta-analysis2
Clinical and Genetic Characteristics and Outcome in Patients with Neonatal Diabetes Mellitus from a Low Middle-Income Country2
Comparison of Commonly Used Methods to Predict the Final Height in Constitutional Tall Stature2
Can Dietary Acid Load in Obese Adolescents Interfere with Cardiometabolic Risk, Psychological Resilience and Sleep Quality?2
A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome2
A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report2
A 4-hour Profile of 17-hydroxyprogesterone in Salt-wasting Congenital Adrenal Hyperplasia: Is the Serial Monitoring Strategy Worth the Effort?2
Advances in Diagnosis and Management of Childhood Osteoporosis2
Psychometric Properties of the Turkish Validity and Reliability of the Parent Diabetes Distress Scale2
Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism2
Acute Kidney Injury After Thyroid Hormone Withdrawal in an Adolescent with Papillary Thyroid Carcinoma2
Differentiated Thyroid Cancer in Children and Adolescents: 12-year Experience in a Single Center2
A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome2
A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings2
Associations of Adipocyte-derived Versican and Macrophage-derived Biglycan with Body Adipose Tissue and Hepatosteatosis in Obese Children2
Clinical Variability in a Noonan Syndrome Family with a Homozygous PTPN11 Gene Variant in Two Individuals2
The Role of American Thyroid Association Pediatric Thyroid Cancer Risk Stratification and BRAFV600E Mutation in Predicting the Response to Treatment in Papillary Thyroid Cancer Patients ≤18 Years Old2
The Impact of the CEDD-NET on the Evaluation of Rare Disorders: A Multicenter Scientific Research Platform in the Field of Pediatric Endocrinology2
Increased Carotid Intima-media Thickness and Its Association with Carbohydrate Metabolism and Adipocytokines in Children Treated with Recombinant Growth Hormone2
Beta-blocker Rebound Phenomenon in an Adolescent with Graves’ Disease2
What is the Most Effective Method for Predicting Adult Height in Boys with Constitutional Delay of Growth and Puberty?2
Incidence of Newly Diagnosed Type 1 Diabetes Mellitus in Children and Adolescents in Henan Province of China from 2017 to 2020: A Retrospective Multicenter Study Based on Hospitalization Data2
Bisphenol A Exposure in Exclusively Breastfed Infants and Lactating Women: An Observational Cross-sectional Study1
Treatment and Follow-up of Non-stress Adrenal Insufficiency1
Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene1
Long Term Growth Hormone Therapy in a Patient with IGF1R Deletion Accompanied by Delayed Puberty and Central Hypothyroidism1
Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type 1A due to a 6.7Kb Deletion in the <i>GH1</i> Gene1
Adrenoleukodystrophy in the Differential Diagnosis of Boys Presenting with Primary Adrenal Insufficiency without Adrenal Antibodies1
Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report1
In response to: “Letter to: Endocrinological Approach to Adolescents with Gender Dysphoria: Experience of a Pediatric Endocrinology Department in a Tertiary Center in Turkey”1
A Rare Coexistence of Turner Syndrome and Mycosis Fungoides: A Case Report1
Is Waist-height Ratio Associated with Thyroid Antibody Levels in Children with Obesity?1
TRMT10A Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic Kidneys1
Schwartz-Jampel Syndrome Type-1: Compound Heterozygosity of Two Novel Variants1
Inequalities in Access to Diabetes Technologies in Children with Type 1 Diabetes: A Multicenter, Cross-sectional Study from Türkiye1
Effect of ACTH Stimulation on Ischemia-Modified Albumin Levels in vivo1
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency1
Initial Basal and Bolus Rates and Basal Rate Variability During Pump Treatment in Children and Adolescents1
Using Etomidate in a Two-month-old Infant with Cushing Syndrome due to Adrenocortical Carcinoma1
Automatic Bone Age Determination in Adult Height Prediction for Girls with Early Variants Puberty and Precoccious Puberty1
Clinical Presentation and Genetic Analysis of Neonatal 11β-Hydroxylase Deficiency Induced by a Chimeric CYP11B2/CYP11B1 Gene1
The Assessment of the Hypothalamic-Pituitary-Adrenal Axis After Oncological Treatment in Pediatric Patients with Acute Lymphoblastic Leukemia1
The Importance of Extended High Frequencies in Hearing Evaluation of Pediatric Patients with Type 1 Diabetes1
Fear of Hypoglycemia and Longer Disease Duration Associated with Physical Activity Avoidance in Children and Adolescents with Type 1 Diabetes Mellitus1
Is Bioavailable Vitamin D Better Than Total Vitamin D to Evaluate Vitamin D Status in Obese Children?1
Adherence to Growth Hormone Treatment in Children During COVID-19 Pandemic1
Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder1
An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience1
Erratum1
Precocious Puberty in Boys: A Study Based on Five Years of Data from a Single Center in Northern China1
Mild Aromatic L-Amino Acid Decarboxylase Deficiency: As A Reason For Hypoketotic Hypoglycemia In A 4-Year-Old Girl1
In response to: “Involvement of the endocrine system is common in mitochondrial disorders and requires long-term comprehensive investigations”1
Non-thyroidal Illness in Children with Congestive Heart Failure1
Association of Vitamin D Deficiency and Vitamin D Receptor Gene Polymorphisms with Type 1 Diabetes Risk: A South Indian Familial Study1
Investigating the Efficiency of Vitamin D Administration with Buccal Spray in the Treatment of Vitamin D Deficiency in Children and Adolescents1
A Potentially Fatal Outcome of Oral Contraceptive Therapy: Estrogen-Triggered Hereditary Angioedema in an Adolescent1
Comprehensive Insights into Pediatric Craniopharyngioma: Endocrine and Metabolic Profiles, Treatment Challenges, and Long-term Outcomes with a Multicenter Approach1
Methylation Status of <i>GLP2R, LEP</i> and <i>IRS2</i> in Small for Gestational Age Children with and without Catch-up Growth1
The Effect of the SARS-CoV-2 Pandemic on Presentation with Diabetic Ketoacidosis in Children with New Onset Type 1 Diabetes Mellitus1
Treatment and Prevention of Adrenal Crisis and Family Education1
Evaluation of Growth Characteristics and Final Heights of Cases Diagnosed with Noonan Syndrome on GH Treatment1
Electrocardiographic Findings in Children Treated with Leuprolide Acetate for Precocious Puberty: Does it Cause Prolonged QT?1
Estrogen Receptor 1 Gene Polymorphism and its Association with Idiopathic Short Stature in North Indian Population1
Frequency of Delayed Puberty in Boys with Contemporary Management of Duchenne Muscular Dystrophy1
Association between Circulating Amino Acids and Childhood Obesity: A Systematic Review and Meta-Analysis1
A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia1
Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review1
Central Adrenal Insufficiency: Etiology and Diagnostic Approach1
A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care1
The My Friend Diabetes Camp was Held Online in Turkey This Year Due to the COVID-19 Pandemic1
Whole Exome Sequencing Revealed Paternal Inheritance of Obesity-related Genetic Variants in a Family with an Exclusively Breastfed Infant1
Current Practices in Hashimoto's Thyroiditis: Differences in Attitudes Between Pediatric and Adult Endocrinologists in Türkiye: A National Survey1
Clinical Management in Systemic Type Pseudohypoaldosteronism Due to <i>SCNN1B</i> Variant and Literature Review1
A Challenging Case of Ectopic ACTH Syndrome with Bronchial Carcinoid and Literature Review1
Vitamin D Receptor Gene Polymorphisms with Type 1 Diabetes Risk: Correspondence1
17-Hydroxyprogesterone Response to Standard Dose Synacthen Stimulation Test in CYP21A2 Heterozygous Carriers and Non-carriers in Symptomatic and Asymptomatic Groups: Meta-analyses1
Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation1
A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in <i>IGSF1</i> Gene1
Qualitative Parental Perceptions of a Paediatric Multidisciplinary Team Clinic for Prader-Willi Syndrome1
Diagnostic Utility in Next-Generation Sequencing by Implicating CNV Analysis in Eleven Patients with Peters Plus Syndrome: A Single-Center Experience1
Thauvin-Robinet-Faivre Syndrome: A FIBP Variant in an Adolescent with Segmental Overgrowth and Thyroid Carcinoma1
DELETE1
Novel IGF1R Variants in Short Stature: Lessons from Two Patients and Outcome of Growth Hormone Therapy1
Frequently Asked Questions and Evidence-Based Answers on Medical Nutritional Therapy in Children with Type 1 Diabetes for Health Care Professionals1
A Rare Presentation of 17α Hydroxylase/17,20 Lyase Deficiency in a Patient with non-Hodgkin’s Lymphoma: A Case Report1
Primary Thyroid Diffuse Large B-cell Lymphoma in a Child with Hashimoto’s Thyroiditis: A Case Report1
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