KEREN MACHOL to Intellectual Disability
This is a "connection" page, showing publications KEREN MACHOL has written about Intellectual Disability.
Connection Strength
0.934
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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. Am J Hum Genet. 2019 01 03; 104(1):164-178.
Score: 0.375
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Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities. EBioMedicine. 2024 Jan; 99:104940.
Score: 0.133
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Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration. Am J Hum Genet. 2023 08 03; 110(8):1356-1376.
Score: 0.128
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Med. 2022 06 13; 14(1):62.
Score: 0.119
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency. Genet Med. 2020 03; 22(3):524-537.
Score: 0.099
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De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. Am J Hum Genet. 2016 Oct 06; 99(4):934-941.
Score: 0.080