Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
2011 · Orphanet Journal of Rare Diseases · 105 citations
https://doi.org/10.1186/1750-1172-6-46
U
Uluç Yiş
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Uluç Yiş is an academic researcher from Dokuz Eylül University. The author has contributed to research in topics: Epilepsy research and treatment & Mitochondrial Function and Pathology & Muscle Physiology and Disorders. The author has an h-index of 32, co-authored 304 publications.
ORCID: 0000-0001-8355-1411Papers by this author
worksCase report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation
2010 · Orphanet Journal of Rare Diseases · 64 citations
https://doi.org/10.1186/1750-1172-5-35
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
2023 · Nature Communications · 52 citations
https://doi.org/10.1038/s41467-023-39539-6
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
2024 · Nature Neuroscience · 43 citations
https://doi.org/10.1038/s41593-024-01747-8
SCN1A gene sequencing in 46 Turkish epilepsy patients disclosed 12 novel mutations
2016 · Seizure · 17 citations
https://doi.org/10.1016/j.seizure.2016.05.008
Severe neurodevelopmental disease caused by a homozygous TLK2 variant
2019 · European Journal of Human Genetics · 14 citations
https://doi.org/10.1038/s41431-019-0519-x
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