William Dobyns to Haploinsufficiency
This is a "connection" page, showing publications William Dobyns has written about Haploinsufficiency.
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NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Am J Hum Genet. 2018 11 01; 103(5):752-768.
Score: 0.162
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MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013 May; 14(2):99-111.
Score: 0.109
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Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. Eur J Hum Genet. 2010 Nov; 18(11):1216-20.
Score: 0.091
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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med. 2017 06; 19(6):691-700.
Score: 0.035
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Hum Mutat. 2016 Feb; 37(2):148-54.
Score: 0.033
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Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain. 2013 Nov; 136(Pt 11):3378-94.
Score: 0.028