Bulent Hacıhamdioglu
Istanbul, Turkey
Last Updated: 09/26/2026
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Found 37 publications
Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.
Journal: European journal of pediatrics
Published: August 26, 2024
Relationship between IgA vasculitis and prothrombotic risk factors: A prospective, case-control study.
Journal: Archives of rheumatology
Published: March 08, 2024
Homozygous Mutation in the Insulin Receptor Gene Associated with Mild Type A Insulin Resistance Syndrome: A Case Report
Journal: Journal of clinical research in pediatric endocrinology
Published: February 06, 2020
Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease.
Journal: The Journal of clinical endocrinology and metabolism
Published: January 30, 2019
A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy
Journal: Journal of clinical research in pediatric endocrinology
Published: November 24, 2018
Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A
Journal: Journal of clinical research in pediatric endocrinology
Published: October 05, 2018
Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia.
Journal: The Turkish journal of pediatrics
Published: January 01, 2018
Association of neck circumference and pulmonary function in children.
Journal: Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology
Published: March 16, 2017
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.
Journal: The Journal of clinical endocrinology and metabolism
Published: October 06, 2016
Risk assessment of obstructive sleep apnea syndrome in pediatric patients with vitamin D deficiency: A questionnaire-based study.
Journal: Medicine
Published: September 30, 2016
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
Journal: The Journal of clinical investigation
Published: August 15, 2016
Worldwide view of nephropathic cystinosis: results from a survey from 30 countries.
Journal: BMC nephrology
Published: August 05, 2016
Last Updated: 09/26/2026