Gulay Karaguzel

Trabzon, 61080, Turkey

Last Updated: 09/26/2026

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Found 54 publications

The role of sclerostin and osteoprotegerin in bone metabolism in children with congenital adrenal hyperplasia.

The role of sclerostin and osteoprotegerin in bone metabolism in children with congenital adrenal hyperplasia.

Journal: European journal of pediatrics

Published: March 08, 2026

Two New Families With TAF13 Variant Presenting With Syndromic 46,XY Disorder of Sex Development: Expanding the Clinical Phenotype.

Two New Families With TAF13 Variant Presenting With Syndromic 46,XY Disorder of Sex Development: Expanding the Clinical Phenotype.

Journal: American journal of medical genetics. Part A

Published: May 16, 2025

Central precocious puberty in boys; diagnosis, treatment and follow-up: a nation-wide study.

Central precocious puberty in boys; diagnosis, treatment and follow-up: a nation-wide study.

Journal: Endocrine

Published: May 08, 2025

Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort.

Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort.

Journal: European journal of pediatrics

Published: May 01, 2025

A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome.

A synonymous single nucleotide variant on the FAM20C gene causes non-lethal Raine syndrome.

Journal: Human molecular genetics

Published: March 29, 2025

Pubertal stage significantly and independently impacts C-peptide levels at type 1 diabetes diagnosis along with body mass index and age.

Pubertal stage significantly and independently impacts C-peptide levels at type 1 diabetes diagnosis along with body mass index and age.

Journal: European journal of pediatrics

Published: September 18, 2024

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

Journal: European journal of pediatrics

Published: August 26, 2024

A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes.

A triple molecular diagnosis in a Turkish individual with hypotrichosis, deafness, and diabetes.

Journal: Clinical dysmorphology

Published: May 31, 2024

Role of ERα and Aromatase in Juvenile Gigantomastia.

Role of ERα and Aromatase in Juvenile Gigantomastia.

Journal: The Journal of clinical endocrinology and metabolism

Published: November 15, 2023

Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2.

Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2.

Journal: Clinical endocrinology

Published: September 12, 2023

Rare Causes of Recurrent Acute Liver Failure In Children: Infantile Liver Failure Syndromes.

Rare Causes of Recurrent Acute Liver Failure In Children: Infantile Liver Failure Syndromes.

Journal: Klinische Padiatrie

Published: February 27, 2023

Intrathyroidal ectopic thymus: an important entity in the differential diagnosis of thyroid nodules.

Intrathyroidal ectopic thymus: an important entity in the differential diagnosis of thyroid nodules.

Journal: The Turkish journal of pediatrics

Published: October 28, 2022

Showing 1-12 of 54

Last Updated: 09/26/2026