Found: 115
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Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 6, p. 851, doi. 10.1007/s00431-012-1868-4
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- Publication type:
- Article
The role of leptin, soluble leptin receptor, resistin, and insulin secretory dynamics in the pathogenesis of hypothalamic obesity in children.
- Published in:
- 2009
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- Publication type:
- journal article
Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2024, v. 16, n. 1, p. 4, doi. 10.4274/jcrpe.galenos.2023.2023-12-10
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- Publication type:
- Article
Non-hormonal Clitoromegaly due to Clitoral Priapism Caused by Appendicitis/Appendectomy.
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- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 3, p. 324, doi. 10.4274/jcrpe.galenos.2021.2021-8-4
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- Publication type:
- Article
Decline in the Age of Menarche in Istanbul Schoolgirls Over the Last 12 Years.
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- Journal of Clinical Research in Pediatric Endocrinology, 2023, v. 15, n. 2, p. 154, doi. 10.4274/jcrpe.galenos.2023.2022-11-16
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- Publication type:
- Article
Efficacy of the Novel Degludec/Aspart Insulin Co-formulation in Children and Adolescents with Type 1 Diabetes: A Real-life Experience with One Year of IDegAsp Therapy in Poorly Controlled and Non-compliant Patients.
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- Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 1, p. 10, doi. 10.4274/jcrpe.galenos.2021.2021.0113
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- Publication type:
- Article
Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: Outcomes of Extended Pilot Study in 241,083 Infants.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 3, p. 287, doi. 10.4274/jcrpe.galenos.2020.2019.0182
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- Publication type:
- Article
Nationwide Turkish Cohort Study of Hypophosphatemic Rickets.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2020, v. 12, n. 2, p. 150, doi. 10.4274/jcrpe.galenos.2019.2019.0098
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- Publication type:
- Article
Clinical and Laboratory Characteristics of Hyperprolactinemia in Children and Adolescents: National Survey.
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- Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 2, p. 149, doi. 10.4274/jcrpe.galenos.2018.2018.0206
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- Publication type:
- Article
Neonatal Screening for Congenital Adrenal Hyperplasia in Turkey: A Pilot Study with 38,935 Infants.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2019, v. 11, n. 1, p. 13, doi. 10.4274/jcrpe.galenos.2018.2018.0117
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- Publication type:
- Article
The Distribution of Different Types of Diabetes in Childhood: A Single Center Experience.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 2, p. 125, doi. 10.4274/jcrpe.5204
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- Publication type:
- Article
A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2018, v. 10, n. 1, p. 68, doi. 10.4274/jcrpe.4638
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- Publication type:
- Article
Premature Pubarche, Hyperinsulinemia, Hypothyroxinemia and Hyperintensities in Basal Ganglia: All Caused by a Single Congenital Defect.
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- Journal of Clinical Research in Pediatric Endocrinology, 2016, v. 8, p. 15
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- Publication type:
- Article
Effect of Maternal Factors and Fetomaternal Glucose Homeostasis on Birth Weight and Postnatal Growth.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, n. 3, p. 168, doi. 10.4274/jcrpe.1914
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- Publication type:
- Article
Growth without Growth Hormone Syndrome in a Patient with Craniopharyngioma.
- Published in:
- 2015
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- Publication type:
- Case Study
Follow-up of Two Cases of Medulloblastoma with/without Growth Hormone Therapy.
- Published in:
- 2015
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- Publication type:
- Case Study
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-60
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- Publication type:
- Article
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.
- Published in:
- 2014
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- Publication type:
- journal article
Catch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 1, p. e106, doi. 10.1210/clinem/dgab619
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- Publication type:
- Article
Dysgenesis and Dysfunction of the Pancreas and Pituitary Due to FOXA2 Gene Defects.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 10, p. e4142, doi. 10.1210/clinem/dgab352
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- Publication type:
- Article
Cranial MRI Abnormalities and Long-term Follow-up of the Lesions in 770 Girls With Central Precocious Puberty.
- Published in:
- 2021
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- Publication type:
- journal article
Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric Cases.
- Published in:
- 2020
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- Publication type:
- journal article
Plasma Renin Measurements are Unrelated to Mineralocorticoid Replacement Dose in Patients With Primary Adrenal Insufficiency.
- Published in:
- 2019
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- Publication type:
- journal article
Development of external genitalia during mini-puberty: is it related to somatic growth or reproductive hormones?
- Published in:
- European Journal of Pediatrics, 2024, v. 183, n. 3, p. 1325, doi. 10.1007/s00431-023-05393-3
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- Publication type:
- Article
Content analysis of food advertising in Turkish television.
- Published in:
- Journal of Paediatrics & Child Health, 2010, v. 46, n. 7/8, p. 427, doi. 10.1111/j.1440-1754.2010.01753.x
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- Publication type:
- Article
Significance of acanthosis nigricans in childhood obesity.
- Published in:
- Journal of Paediatrics & Child Health, 2008, v. 44, n. 6, p. 338, doi. 10.1111/j.1440-1754.2007.01272.x
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- Publication type:
- Article
A homozygous Y443C variant in the RNPC3 is associated with severe syndromic congenital hypopituitarism and diffuse brain atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2701, doi. 10.1002/ajmg.a.62888
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- Publication type:
- Article
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1501, doi. 10.1002/ajmg.a.37029
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- Publication type:
- Article
Stuve-Wiedemann syndrome: Is it underrecognized?
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2200, doi. 10.1002/ajmg.a.36626
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- Publication type:
- Article
Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 709, doi. 10.1038/ng.2259
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- Publication type:
- Article
Birth Weight in Different Etiologies of Disorders of Sex Development.
- Published in:
- 2017
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- Publication type:
- journal article
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
- Published in:
- 2016
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- Publication type:
- journal article
Homozygous loss-of-function mutations in SOHLH1 in patients with nonsyndromic hypergonadotropic hypogonadism.
- Published in:
- 2015
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- Publication type:
- journal article
Novel associations in disorders of sex development: findings from the I-DSD Registry.
- Published in:
- 2014
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- Publication type:
- journal article
Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and 'Apparent' Thyroid Dysgenesis.
- Published in:
- 2014
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- Publication type:
- Journal Article
An atypical case of familial glucocorticoid deficiency without pigmentation caused by coexistent homozygous mutations in MC2R (T152K) and MC1R (R160W).
- Published in:
- 2012
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- Publication type:
- journal article
Association between inflammatory markers in induced sputum and clinical characteristics in children with non-cystic fibrosis bronchiectasis.
- Published in:
- Pediatric Pulmonology, 2007, v. 42, n. 4, p. 362, doi. 10.1002/ppul.20587
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- Publication type:
- Article
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics.
- Published in:
- Diabetologia, 2022, v. 65, n. 2, p. 336, doi. 10.1007/s00125-021-05597-y
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- Publication type:
- Article
Bone Mineral Density in Children with Non-Cystic Fibrosis Bronchiectasis.
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- Respiration, 2008, v. 75, n. 4, p. 432, doi. 10.1159/000105386
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- Publication type:
- Article
Venous Thrombosis in a Pseudohypoparathyroidism Patient with a Novel GNAS Frameshift Mutation and Complete Resolution of Vascular Calcifications with Acetazolamide Treatment.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 4, p. 404, doi. 10.1159/000534456
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- Publication type:
- Article
An Overlooked Manifestation of Hypercortisolism: Cerebral Cortical Atrophy and Challenges in Identifying the Etiology of Hypercortisolism – A Report of 2 Pediatric Cases.
- Published in:
- Hormone Research in Paediatrics, 2024, v. 97, n. 2, p. 172, doi. 10.1159/000530391
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- Publication type:
- Article
Challenges in the Management of a 7-Year-Old Child with Thyrotropin-Secreting Pituitary Adenoma and the Review of the Literature.
- Published in:
- Hormone Research in Paediatrics, 2023, v. 96, n. 5, p. 527, doi. 10.1159/000529070
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- Publication type:
- Article
Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.
- Published in:
- 2009
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- Publication type:
- journal article
Effects of leukemia inhibitory receptor gene mutations on human hypothalamo-pituitary-adrenal function.
- Published in:
- Pituitary, 2015, v. 18, n. 4, p. 456, doi. 10.1007/s11102-014-0594-5
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- Publication type:
- Article
Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022.
- Published in:
- Journal of the Endocrine Society, 2024, v. 8, n. 10, p. 1, doi. 10.1210/jendso/bvae145
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- Publication type:
- Article
Insights From Long-term Follow-up of a Girl With Adrenal Insufficiency and Sphingosine-1-Phosphate Lyase Deficiency.
- Published in:
- Journal of the Endocrine Society, 2022, v. 6, n. 5, p. 1, doi. 10.1210/jendso/bvac020
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- Publication type:
- Article
Frequency of Ambiguous Genitalia in 14,177 Newborns in Turkey.
- Published in:
- Journal of the Endocrine Society, 2019, v. 3, n. 6, p. 1185, doi. 10.1210/js.2018-00408
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- Publication type:
- Article
Pubertal and Gonadal Outcomes in 46,XY Individuals with Partial Androgen Insensitivity Syndrome Raised as Girls.
- Published in:
- Sexual Development, 2023, v. 17, n. 1, p. 16, doi. 10.1159/000526997
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- Publication type:
- Article
Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study.
- Published in:
- Sexual Development, 2021, v. 15, n. 4, p. 229, doi. 10.1159/000517055
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- Publication type:
- Article
Persistent Müllerian Duct Syndrome: A Rare But Important Etiology of Inguinal Hernia and Cryptorchidism.
- Published in:
- Sexual Development, 2019, v. 13, n. 5/6, p. 264, doi. 10.1159/000510466
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- Publication type:
- Article