Nursel H. Elçioğlu - Genetic Mutations

Author Information

Nursel H. Elçioğlu is a distinguished researcher currently affiliated with the Department of Pediatric Genetics at Marmara University Medical School in Istanbul, Turkey, and the Eastern Mediterranean University School of Medicine in Cyprus, Mersin, Turkey.

Research Contributions

Nursel H. Elçioğlu has made significant contributions to the field of genetics, particularly focusing on rare genetic disorders and syndromes. Her research encompasses a wide array of topics, including Bloom syndrome, beta-galactosidase deficiency, Warburg-Micro syndrome, and other ultra-rare diseases. Her work is characterized by detailed phenotypic and genotypic analyses, which have contributed to the understanding of complex genetic conditions. Notable publications highlight her investigations into the clinical distinctions and molecular stratifications of various genetic syndromes.

Aliases

Nursel H. Elçioğlu is also known by several other names, including N. Elcioğlu, N H Elcioglu, Nursel H. Elçioğlu, Nursel Elcioğlu, and Nursel Elçioğlu, among others.

Publication and Citation Metrics

Metric Value
Total Citations 5038
H-index 36
Total Papers 130

Publications:

DOI: 10.1101/2021.11.02.21265560

Year: 2021

DOI: 10.1038/s41436-020-0839-9

Year: 2020

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