Alper H. Cebi

Trabzon, Turkey

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 48 publications

Case Report: Papillon-Lefèvre syndrome beyond keratoderma: two index presentations and sibling screening in two families.

Case Report: Papillon-Lefèvre syndrome beyond keratoderma: two index presentations and sibling screening in two families.

Journal: Frontiers in immunology
Published: May 22, 2026

Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndrome.

Phenotypic heterogeneity in carriers of a pathogenic MSH2 variant: implications for the diagnosis of Lynch syndrome.

Journal: Journal of cancer research and clinical oncology
Published: April 13, 2026

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 recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population.

A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population.

Journal: Neurogenetics
Published: February 22, 2025

Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.

Journal: Clinical genetics
Published: October 14, 2024

A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3.

A Strong Candidate Gene for Nonsyndromic Intellectual Disability Phenotype: SGSM3.

Journal: Clinical genetics
Published: September 06, 2024

Comparison of Clinical and Genetic Characteristics of Familial Mediterranean Fever Patients Among Adult Age Groups.

Comparison of Clinical and Genetic Characteristics of Familial Mediterranean Fever Patients Among Adult Age Groups.

Journal: The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology
Published: August 16, 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

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals.

Journal: American journal of medical genetics. Part A
Published: March 18, 2024

A perspective on muscle phenotyping in musculoskeletal research.

A perspective on muscle phenotyping in musculoskeletal research.

Journal: Trends in endocrinology and metabolism: TEM
Published: October 30, 2023

The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.

The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders.

Journal: American journal of medical genetics. Part A
Published: September 24, 2023

Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.

Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.

Journal: Clinical and translational science
Published: May 23, 2023
Showing 1-12 of 48

Last Updated: 09/26/2026