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94 results

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Page 1
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, Jizi K, Ravenswaaij-Arts CMAV, Kroes HY, Stumpel CTRM, Ockeloen CW, Diets IJ, Nizon M, Vincent M, Cogné B, Besnard T, Kambouris M, Anderson E, Zackai EH, McDougall C, Donoghue S, O'Donnell-Luria A, Valivullah Z, O'Leary M, Srivastava S, Byers H, Leslie N, Mazzola S, Tiller GE, Vera M, Shen JJ, Boles R, Jain V, Brischoux-Boucher E, Kinning E, Simpson BN, Giltay JC, Harris J, Keren B, Guimier A, Marijon P, Vries BBA, Motter CS, Mendelsohn BA, Coffino S, Gerkes EH, Afenjar A, Visconti P, Bacchelli E, Maestrini E, Delahaye-Duriez A, Gooch C, Hendriks Y, Adams H, Thauvin-Robinet C, Josephi-Taylor S, Bertoli M, Parker MJ, Rutten JW, Caluseriu O, Vernon HJ, Kaziyev J, Zhu J, Kremen J, Frazier Z, Osika H, Breault D, Nair S, Lewis SME, Ceroni F, Viggiano M, Posar A, Brittain H, Giovanna T, Giulia G, Quteineh L, Ha-Vinh Leuchter R, Zonneveld-Huijssoon E, Mellado C, Marey I, Coudert A, Aracena Alvarez MI, Kennis MGP, Bouman A, Roifman M, Amorós Rodríguez MI, Ortigoza-Escobar JD, Vernimmen V, Sinnema M, Pfundt R, Brunner HG, Visser… See abstract for full author list ➔ Rots D, et al. Among authors: posar a. Am J Hum Genet. 2024 Aug 8;111(8):1626-1642. doi: 10.1016/j.ajhg.2024.06.009. Epub 2024 Jul 15. Am J Hum Genet. 2024. PMID: 39013459 Free PMC article.
Is it autism? Some suggestions for pediatricians.
Posar A, Visconti P. Posar A, et al. Turk Pediatri Ars. 2020 Sep 23;55(3):229-235. doi: 10.14744/TurkPediatriArs.2020.59862. eCollection 2020. Turk Pediatri Ars. 2020. PMID: 33061749 Free PMC article. Review.
Long-term outcome of autism spectrum disorder.
Posar A, Visconti P. Posar A, et al. Turk Pediatri Ars. 2019 Dec 25;54(4):207-212. doi: 10.14744/TurkPediatriArs.2019.16768. eCollection 2019. Turk Pediatri Ars. 2019. PMID: 31949411 Free PMC article. Review.
Early Motor Signs in Autism Spectrum Disorder.
Posar A, Visconti P. Posar A, et al. Children (Basel). 2022 Feb 21;9(2):294. doi: 10.3390/children9020294. Children (Basel). 2022. PMID: 35205014 Free PMC article. Review.
Praise for pediatric neuropsychiatry.
Posar A, Visconti P. Posar A, et al. Turk Pediatri Ars. 2020 Dec 16;55(4):453-454. doi: 10.14744/TurkPediatriArs.2019.66743. eCollection 2020. Turk Pediatri Ars. 2020. PMID: 33414668 Free PMC article. No abstract available.
What Underlies Autism Spectrum Disorder?
Posar A, Visconti P. Posar A, et al. Turk Arch Pediatr. 2022 Jul;57(4):467-468. doi: 10.5152/TurkArchPediatr.2022.22035. Turk Arch Pediatr. 2022. PMID: 35822481 Free PMC article. No abstract available.
94 results