Repository of Research and Investigative Information

Repository of Research and Investigative Information

Shahid Sadoughi University of Medical Sciences

Items where Author is "Houlden, Henry"

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Article

(2020) Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. Acta neuropathologica. pp. 415-442. ISSN 1432-0533

(2019) Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. American journal of human genetics. pp. 1048-1056. ISSN 1537-6605

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