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You searched for: Author/Creator Yüksel, Zafer

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1. A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia. Issue 5 (21st February 2019)

4. Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy. Issue 12 (7th September 2022)

6. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Issue Volume 47:Issue D1(2019) (22nd November 2018)

10. The Human Phenotype Ontology in 2021. Issue Volume 49:Issue D1(2021) (2nd December 2020)