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KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,; Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. Kennedy J, et al. Among authors: heussler h. Genet Med. 2019 Apr;21(4):850-860. doi: 10.1038/s41436-018-0259-2. Epub 2018 Sep 24. Genet Med. 2019. PMID: 30245513 Free PMC article.
A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX).
Berry-Kravis E, Hagerman R, Budimirovic D, Erickson C, Heussler H, Tartaglia N, Cohen J, Tassone F, Dobbins T, Merikle E, Sebree T, Tich N, Palumbo JM, O'Quinn S. Berry-Kravis E, et al. Among authors: heussler h. J Neurodev Disord. 2022 Nov 25;14(1):56. doi: 10.1186/s11689-022-09466-6. J Neurodev Disord. 2022. PMID: 36434514 Free PMC article. Clinical Trial.
A national harmonised data collection network for neurodevelopmental disorders: A transdiagnostic assessment protocol for neurodevelopment, mental health, functioning and well-being.
Boulton KA, Coghill D, Silove N, Pellicano E, Whitehouse AJO, Bellgrove MA, Rinehart NJ, Lah S, Redoblado-Hodge MA, Badawi N, Heussler H, Rogerson N, Burns J, Farrar MA, Nanan R, Novak I, Goldwater MB, Munro N, Togher L, Nassar N, Quinn P, Middeldorp CM, Guastella AJ. Boulton KA, et al. Among authors: heussler h. JCPP Adv. 2021 Nov 26;1(4):e12048. doi: 10.1002/jcv2.12048. eCollection 2021 Dec. JCPP Adv. 2021. PMID: 37431407 Free PMC article.
Expanding the phenotype of intellectual disability caused by HIVEP2 variants.
Goldsmith H, Wells A, Sá MJN, Williams M, Heussler H, Buckman M, Pfundt R, de Vries BBA, Goel H. Goldsmith H, et al. Among authors: heussler h. Am J Med Genet A. 2019 Sep;179(9):1872-1877. doi: 10.1002/ajmg.a.61271. Epub 2019 Jun 17. Am J Med Genet A. 2019. PMID: 31207095
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study; Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. Kennedy J, et al. Among authors: heussler h. Genet Med. 2020 Nov;22(11):1920. doi: 10.1038/s41436-020-00944-7. Genet Med. 2020. PMID: 32814847 Free article.
99 results