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Your search keyword '"Brown, Natasha"' showing total 5 results

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Start Over You searched for: Author "Brown, Natasha" Remove constraint Author: "Brown, Natasha" Journal the american journal of human genetics Remove constraint Journal: the american journal of human genetics
5 results on '"Brown, Natasha"'

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1. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

2. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

3. THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

4. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

5. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

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