OGUZ KANCA to Female
This is a "connection" page, showing publications OGUZ KANCA has written about Female.
Connection Strength
0.130
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De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms. Am J Hum Genet. 2025 04 03; 112(4):846-862.
Score: 0.034
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424.
Score: 0.023
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Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder. Genet Med. 2026 Apr; 28(4):101685.
Score: 0.009
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Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models. HGG Adv. 2026 Jan 15; 7(1):100541.
Score: 0.009
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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome. Brain. 2025 Aug 01; 148(8):2658-2670.
Score: 0.009
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Biallelic MED16 variants disrupt neural development and lead to an intellectual disability syndrome. J Genet Genomics. 2025 10; 52(10):1189-1198.
Score: 0.009
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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder. Genet Med. 2025 Jul; 27(7):101429.
Score: 0.009
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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 11; 26(11):101218.
Score: 0.008
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Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genet Med. 2024 07; 26(7):101125.
Score: 0.008
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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 09 02; 108(9):1669-1691.
Score: 0.007
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De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 06 03; 29(9):1568-1579.
Score: 0.006