Sumeyra Oguz
Istanbul, Turkey
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Expanding the Neurodevelopmental Spectrum of Xia-Gibbs Syndrome: New Clinical Entities and Novel Variants From a Turkish Cohort.
Journal: Developmental neurobiology
Published: March 05, 2026
Trisomy 18 and Trisomy 13: A Retrospective Cohort Study at a Tertiary Hospital.
Journal: Children (Basel, Switzerland)
Published: December 19, 2025
Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.
Journal: European journal of pediatrics
Published: June 17, 2025
A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature.
Journal: American journal of medical genetics. Part A
Published: August 27, 2024
An Unexpected Diagnosis of The Rectal Polyp: Perivascular Epithelioid Cell Tumor.
Journal: Turkish archives of pediatrics
Published: March 07, 2024
A very rare case of a newborn with tetrasomy 9p and literature review.
Journal: The Turkish journal of pediatrics
Published: March 14, 2022
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: August 19, 2021
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion.
Journal: Neuropediatrics
Published: July 15, 2020
Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20).
Further Phenotypic Delineation of Partial Trisomy 17q and Partial Monosomy 20q due to Rare t(17;20).
Journal: Molecular syndromology
Published: November 22, 2019
A case of Woodhouse-Sakati syndrome with pituitary iron deposition, cardiac and intestinal anomalies, with a novel mutation in DCAF17.
Journal: European journal of medical genetics
Published: February 15, 2019
Showing 1-10 of 10
Last Updated: 09/26/2026