Publications by authors named "Mustafa Altan"

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Clinical and molecular characterization of 148 pediatric neurofibromatosis type 1 patients: a single-center study identifying 14 novel variants.
Aslı Genç, Yasemin Ünal, Ahmet Cevdet Ceylan, Mustafa Altan, Esra Gürkaş

Eur J Pediatr· November 2025

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Clinical and Molecular Findings in 17 Patients with Cornelia de Lange Syndrome: Four Novel Variants and an Gene Variant.
Duygu Çetinkaya, Mustafa Altan, Ahmet Cevdet Ceylan, Esra Kılıç

Mol Syndromol· October 2025

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Clinical and Molecular Evaluation of Beckwith-Wiedemann Syndrome with the BWSICS Score.
Duygu Çetinkaya, Mustafa Altan, Esra Kılıç

Mol Syndromol· October 2025

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Clinical Utility of a Targeted Next-Generation Sequencing Panel for Inherited Platelet Disorders in Children.
Dilek Kaçar, Mustafa Altan, Turan Bayhan, Said Furkan Yıldırım, Fatma Burçin Kurtipek

Diagnostics (Basel)· August 2025

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Founder Pathogenic Variant in and Its Diverse Phenotypic Manifestations in Mandibuloacral Dysplasia: Insights from a Turkish Cohort.
Zehra Manav Yigit, Mustafa Altan, Goksel Tuzcu, Gokay Bozkurt, Ahmet Anik

J Clin Res Pediatr Endocrinol· June 2025

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A novel homozygous CLCNKB variant: An early presentation of classic Bartter syndrome in a neonate.
Deniz Yaprak, Hüdaverdi Kara, Erhan Calisici, Belma Saygılı Karagöl, Mustafa Altan

Birth Defects Res· October 2023

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Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Munis Dundar, Umut Fahrioglu, Saliha Handan Yildiz, Burcu Bakir-Gungor, Sehime Gulsun Temel, Mustafa Altan

Funct Integr Genomics· June 2022

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