Wissenschaftliche Arbeiten

Doç. Dr. Saygın Abalı

93 Publikationen. Neben jeder Publikation steht die Quelle der Angabe.

Zurück zum Profil

  1. Clinical Characteristics and Thyroid Findings in Children with Isolated Premature Adrenarche

    Children, 2026

    DOI 10.3390/children13091221 PMID 42794241 Frei zugänglicher VolltextQuelle: OpenAlex

  2. Diagnostic Utility of Genetic Testing in Hyperthyroxinemia With Non‐Suppressed TSH

    Clinical Endocrinology, 2026

    DOI 10.1111/cen.70126 PMID 41800491 Quelle: OpenAlex

  3. Early Childhood Obesity: Multifactorial Influences with a Prominent Familial Contribution

    Journal of Clinical Research in Pediatric Endocrinology, 2026

    DOI 10.4274/jcrpe.galenos.2026.2025-12-23 PMID 41837715 Frei zugänglicher VolltextQuelle: OpenAlex

  4. Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study

    EBioMedicine, 2025

    DOI 10.1016/j.ebiom.2025.105624 PMID 40037090 9 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  5. Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism

    Endocrine, 2025

    DOI 10.1007/s12020-025-04244-5 PMID 40382736 5 Zitationen (Europe PMC) Quelle: OpenAlex

  6. Impact of Growth-promoting Therapies on Puberty, Growth, and Final Height in Classical 21-hydroxylase Deficiency

    The Journal of Clinical Endocrinology & Metabolism, 2025

    DOI 10.1210/clinem/dgaf612 PMID 41349002 2 Zitationen (Europe PMC) Quelle: OpenAlex

  7. Novel IGF1R Variants in Short Stature: Lessons from Two Patients and Outcome of Growth Hormone Therapy

    Journal of Clinical Research in Pediatric Endocrinology, 2025

    DOI 10.4274/jcrpe.galenos.2025.2024-12-7 PMID 40269620 2 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  8. Early Metabolic Profile in Neonates with Maternal Intrahepatic Cholestasis of Pregnancy

    Children, 2025

    DOI 10.3390/children12121655 PMID 41462795 Frei zugänglicher VolltextQuelle: OpenAlex

  9. Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2 ‐Related Rothmund–Thomson Syndrome

    American Journal of Medical Genetics Part A, 2025

    DOI 10.1002/ajmg.a.64179 PMID 40693833 1 Zitation (Europe PMC) Quelle: OpenAlex

  10. Early metabolic biomarkers in neonates of diabetic mothers: predictive insights from amino acid and acylcarnitine profiling

    The Journal of Maternal-Fetal & Neonatal Medicine, 2025

    DOI 10.1080/14767058.2025.2528051 PMID 40854794 2 Zitationen (Europe PMC) Quelle: OpenAlex

  11. Clinical and Molecular Spectrum of Infantile Hypercalcemia Type I: Insights Into CYP24A1 Variants

    Clinical Endocrinology, 2025

    DOI 10.1111/cen.70064 PMID 41327588 Quelle: OpenAlex

  12. The Mystery of Elevated β-hCG in GnRH-Independent Precocious Puberty without a Detectable Tumor: A Six-Year Diagnostic Odyssey

    Hormone Research in Paediatrics, 2025

    DOI 10.1159/000549889 PMID 41335548 Quelle: OpenAlex

  13. Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation

    Journal of Pediatric Endocrinology and Metabolism, 2025

    DOI 10.1515/jpem-2025-0208 PMID 40960910 1 Zitation (Europe PMC) Quelle: OpenAlex

  14. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

    EBioMedicine, 2024

    DOI 10.1016/j.ebiom.2023.104941 PMID 38168586 31 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  15. Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia

    The Journal of Clinical Endocrinology & Metabolism, 2024

    DOI 10.1210/clinem/dgae868 PMID 39700445 3 Zitationen (Europe PMC) Quelle: OpenAlex

  16. Thyrotoxic Hypokalemic Periodic Paralysis Induced by High-Dose Insulin in an Adolescent Male with Type 1 Diabetes Mellitus

    Hormone Research in Paediatrics, 2024

    DOI 10.1159/000543329 PMID 39719130 Frei zugänglicher VolltextQuelle: OpenAlex

  17. Interdisiplinary and intraobserver reliability of the Greulich-Pyle method among Turkish children

    Journal of Pediatric Endocrinology and Metabolism, 2023

    DOI 10.1515/jpem-2023-0303 PMID 37844258 1 Zitation (Europe PMC) Quelle: OpenAlex

  18. Challenges in the Management of a 7-Year-Old Child with Thyrotropin-Secreting Pituitary Adenoma and the Review of the Literature

    Hormone Research in Paediatrics, 2023

    DOI 10.1159/000529070 PMID 36630941 1 Zitation (Europe PMC) Quelle: OpenAlex

  19. Preterm ovarian hyperstimulation syndrome mimicking clitoromegaly

    Pediatrics & Neonatology, 2023

    DOI 10.1016/j.pedneo.2023.04.008 PMID 37380551 1 Zitation (Europe PMC) Quelle: OpenAlex

  20. Clinical Features of Children and Adolescents at the Onset of Diabetes: A Single-center Experience

    Bakirkoy Tip Dergisi / Medical Journal of Bakirkoy, 2023

    DOI 10.4274/bmj.galenos.2023.2022.12-11 Quelle: OpenAlex

  21. Early postnatal metabolic profile in neonates with critical CHDs

    Cardiology in the Young, 2022

    DOI 10.1017/s1047951122003134 PMID 36193679 5 Zitationen (Europe PMC) Quelle: OpenAlex

  22. A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/B

    Bone, 2022

    DOI 10.1016/j.bone.2022.116344 PMID 35104666 Frei zugänglicher VolltextQuelle: OpenAlex

  23. Cranial MRI Abnormalities and Long-term Follow-up of the Lesions in 770 Girls With Central Precocious Puberty

    The Journal of Clinical Endocrinology & Metabolism, 2021

    DOI 10.1210/clinem/dgab190 PMID 33765130 16 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  24. Cranial MRI abnormalities and long-term follow-up of the lesions in 770 girls with central precocious puberty

    Yearbook of pediatric endocrinology, 2021

    DOI 10.1530/ey.18.7.1 1 Zitation (OpenAlex) Quelle: OpenAlex

  25. Neonatal Problems and Infancy Growth of Term SGA Infants: Does “SGA” Definition Need to Be Re-evaluated?

    Frontiers in Pediatrics, 2021

    DOI 10.3389/fped.2021.660111 PMID 34869090 7 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  26. Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia

    Journal of Pediatric Endocrinology and Metabolism, 2021

    DOI 10.1515/jpem-2021-0087 PMID 34142517 3 Zitationen (Europe PMC) Quelle: OpenAlex

  27. Early Postnatal Metabolic Profile in Neonates With Different Birth Weight Status: A Pilot Study

    Frontiers in Pediatrics, 2021

    DOI 10.3389/fped.2021.646860 PMID 33987152 14 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  28. Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children

    Journal of Clinical Research in Pediatric Endocrinology, 2021

    DOI 10.4274/jcrpe.galenos.2021.2021.0056 PMID 34250910 11 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  29. Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features

    Calcified Tissue International, 2021

    DOI 10.1007/s00223-021-00928-y PMID 34761296 4 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  30. SHOX Eksikliği ve SHOX Eksikliğinde Büyüme Hormonu Kullanımı

    2021

    Quelle: OpenAlex

  31. A rare cause of hypercalcemia: Congenital Lactase Deficiency

    59th ESPE Annual Meeting (ESPE 2021 Online), 2021

    Quelle: OpenAlex

  32. A Novel Deletion Involving the First GNAS Exon Encoding Gsα Causes PHP1A Without Methylation Changes At Exon A/B

    SSRN Electronic Journal, 2021

    DOI 10.2139/ssrn.3990635 Frei zugänglicher VolltextQuelle: OpenAlex

  33. Hereditary vitamin D-resistant rickets: a report of four cases with two novel variants in the VDR gene and successful use of intermittent intravenous calcium via a peripheral route

    Journal of Pediatric Endocrinology and Metabolism, 2020

    DOI 10.1515/jpem-2019-0466 PMID 32049653 3 Zitationen (Europe PMC) Quelle: OpenAlex

  34. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease

    The Journal of Clinical Endocrinology & Metabolism, 2019

    DOI 10.1210/jc.2019-00248 PMID 31042289 71 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  35. Nationwide Turkish Cohort Study of Hypophosphatemic Rickets

    Journal of Clinical Research in Pediatric Endocrinology, 2019

    DOI 10.4274/jcrpe.galenos.2019.2019.0098 PMID 31514490 11 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  36. A rare cause of hypertension in childhood: Answers

    Pediatric Nephrology, 2019

    DOI 10.1007/s00467-019-04329-0 PMID 31541304 3 Zitationen (Europe PMC) Quelle: OpenAlex

  37. A rare cause of hypertension in childhood: Questions

    Pediatric Nephrology, 2019

    DOI 10.1007/s00467-019-04326-3 PMID 31541303 Quelle: OpenAlex

  38. Rare Causes of Osteogenesis Imperfecta are Common in Consanguineous Pedigrees

    Dspace Repository (Marmara Üniversitesi), 2019

    Frei zugänglicher VolltextQuelle: OpenAlex

  39. Hypergonadotropic Hypogonadism in 46, XX Adolescents Without Gonadotoxic Therapy: Clinical Features and Molecular Etiologies

    Dspace Repository (Marmara Üniversitesi), 2019

    Frei zugänglicher VolltextQuelle: OpenAlex

  40. Characteristics of puberty, pubertal height gain and final height in children with classical 21 hydroxylase deficiency

    Dspace Repository (Marmara Üniversitesi), 2019

    Frei zugänglicher VolltextQuelle: OpenAlex

  41. Thyroid Function Tests and Affecting Factors in Twins and Triplets

    57th Annual ESPE, 2018

    Quelle: OpenAlex

  42. Incidence of Type 1 Diabetes in Children Aged Below 18 Years During 2013-2015 in Northwest Turkey

    Journal of Clinical Research in Pediatric Endocrinology, 2018

    DOI 10.4274/jcrpe.0025 PMID 29789274 8 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  43. Response to growth hormone treatment in very young patients with growth hormone deficiencies and mini-puberty

    Journal of Pediatric Endocrinology and Metabolism, 2018

    DOI 10.1515/jpem-2017-0123 PMID 29353264 7 Zitationen (Europe PMC) Quelle: OpenAlex

  44. Nationwide Hypophosphatemic Rickets Study

    Trakya University's Institutional Open Access System (Trakya University), 2018

    Frei zugänglicher VolltextQuelle: OpenAlex

  45. Çok Merkezli Olarak Hipofosfatemik Riketsli Olguların Değerlendirilmesi

    Bursa Uludag University - AVESIS, 2018

    Quelle: OpenAlex

  46. Nationwide Hypophosphatemic Rickets Study

    Bursa Uludag University - AVESIS, 2018

    Quelle: OpenAlex

  47. Retinal Ganglion Cell Loss in Children With Type 1 Diabetes Mellitus Without Diabetic Retinopathy

    Ophthalmic surgery, lasers & imaging retina, 2017

    DOI 10.3928/23258160-20170601-05 PMID 28613353 28 Zitationen (Europe PMC) Quelle: OpenAlex

  48. The Distribution of Different Types of Diabetes in Childhood: A Single Center Experience

    Journal of Clinical Research in Pediatric Endocrinology, 2017

    DOI 10.4274/jcrpe.5204 PMID 29175806 13 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  49. CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation

    American Journal of Ophthalmology Case Reports, 2017

    DOI 10.1016/j.ajoc.2017.06.007 PMID 29260097 13 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

  50. A RARE ENDOCRINE CAUSE OF HYPERTENSION: APPARENT MINERALOCORTICOID ACCESS SYNDROME

    Dspace Repository (Marmara Üniversitesi), 2017

    Quelle: OpenAlex