Publications by authors named "Burak Baser"

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Next-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience.
Engin Demir, Fatma Derya Bulut, Berrak Bilginer-Gürbüz, Mehmet Ercüment Döğen, Ali İşlek

Mol Syndromol· August 2025

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Many Faces of Diencephalic-Mesencephalic Junction Dysplasia Syndrome with and Variants.
Gizem Ürel-Demir, Burak Başer, Rahşan Göçmen, Pelin Özlem Şimşek-Kiper, Gülen Eda Utine

Mol Syndromol· August 2024

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-Associated Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities: A Lethal Phenotype.
Engin Demir, Filiz Adım, Mehmet Ercüment Döğen, Ayşe Aydoğdu, Edanur Yeşil

Pediatr Allergy Immunol Pulmonol· December 2023

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A Boy with Sandestig-Stefanova Syndrome and Genital Abnormalities.
Ali Korulmaz, Burak Başer, Mehmet Alakaya, Ali Ertuğ Arslanköylü

Mol Syndromol· July 2022

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Identification of a novel pathogenic variant in CKAP2L and literature review in a child with Filippi syndrome and congenital talipes equinovarus.
Taner Karakaya, Ali Evren Bilgic, Deniz Eris, Burak Baser, Serdar Mermer

Am J Med Genet A· July 2021

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Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.
Malik Ejder Yildirim, Hande Kucuk Kurtulgan, Ozturk Ozdemir, Hasan Kilicgun, Didem S Aydemir, Burak Baser

Ann Saudi Med· April 2020

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The type and prevalence of chromosomal abnormalities in couples with recurrent first trimester abortions: A Turkish retrospective study.
Malik Ejder Yildirim, Savas Karakus, Hande Kucuk Kurtulgan, Burak Baser, Ilhan Sezgin

J Gynecol Obstet Hum Reprod· September 2019

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Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease.
Melih Ustaoglu, Nilgun Solmaz, Burak Baser, Hande Kucuk Kurtulgan, Feyza Onder

Cornea· March 2019

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Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report.
Elif Ünver Korğalı, Amine Yavuz, Cemile Ece Çağlar Şimşek, Cengiz Güney, Hande Küçük Kurtulgan

Fetal Pediatr Pathol· April 2018

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