Hayriye N. Kececi

Konya, Turkey

Last Updated: 09/26/2026

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Found 8 publications

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Journal: Clinical genetics
Published: February 09, 2026

Syndromic Alobar Holoprosencephaly Associated with a de novo 2p21p16.2 Contiguous Gene Deletion: A Neonatal Case Report.

Syndromic Alobar Holoprosencephaly Associated with a de novo 2p21p16.2 Contiguous Gene Deletion: A Neonatal Case Report.

Journal: Molecular syndromology
Published: January 26, 2026

A rare cause of congenital diarrhea: a homozygous AGR2 frameshift variant in an infant.

A rare cause of congenital diarrhea: a homozygous AGR2 frameshift variant in an infant.

Journal: The Turkish journal of pediatrics
Published: December 17, 2025

A TRIM8 Variant in a Child: Neuro-Renal Syndrome Causing Features Suggestive of Medullary Sponge Kidney.

A TRIM8 Variant in a Child: Neuro-Renal Syndrome Causing Features Suggestive of Medullary Sponge Kidney.

Journal: Nephrology (Carlton, Vic.)
Published: July 04, 2025

Hyperuricemia and elevated creatinine in a child with anemia.

Hyperuricemia and elevated creatinine in a child with anemia.

Journal: The Turkish journal of pediatrics
Published: May 16, 2025

Microarray Application in Newborns With Multiple Congenital Anomalies: Genotype-Phenotype Correlation.

Microarray Application in Newborns With Multiple Congenital Anomalies: Genotype-Phenotype Correlation.

Journal: Birth defects research
Published: April 02, 2025

A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases.

A case of 14q terminal deletion syndrome and hemifacial microsomia with review of terminal 14q deletion cases.

Journal: Clinical dysmorphology
Published: February 27, 2024

Topiramate response in adult-onset opsoclonus-myoclonus-ataxia syndrome: A case report.

Topiramate response in adult-onset opsoclonus-myoclonus-ataxia syndrome: A case report.

Journal: Revue neurologique
Published: September 20, 2016
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Last Updated: 09/26/2026