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PubMed for id: 1645968

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[Clinical practice guidelines for Fragile X syndrome].
Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor Association, Clinical Genetics Group Of Medical Genetics Branch Of Chinese Medical Association, Genetic Disease Prevention And Control Group Of Professional Committee For Birth Defect Prevention And Control Of Chinese Preventive Medicine Association, Duan R, Li G, Xi H, Peng Y, Wu L. Clinical Genetics Group Of Medical Geneticist Branch Of Chinese Medical Doctor Association, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Nov 10;39(11):1181-1186. doi: 10.3760/cma.j.cn511374-20220819-00564. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 36317200 Chinese.
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.
Madeo SF, Zagaroli L, Vandelli S, Calcaterra V, Crinò A, De Sanctis L, Faienza MF, Fintini D, Guazzarotti L, Licenziati MR, Mozzillo E, Pajno R, Scarano E, Street ME, Wasniewska M, Bocchini S, Bucolo C, Buganza R, Chiarito M, Corica D, Di Candia F, Francavilla R, Fratangeli N, Improda N, Morabito LA, Mozzato C, Rossi V, Schiavariello C, Farello G, Iughetti L, Salpietro V, Salvatoni A, Giordano M, Grugni G, Delvecchio M. Madeo SF, et al. Front Endocrinol (Lausanne). 2024 Apr 26;15:1382583. doi: 10.3389/fendo.2024.1382583. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38737552 Free PMC article. Review.
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
Levy T, Gluckman J, Siper PM, Halpern D, Zweifach J, Filip-Dhima R, Holder JL Jr, Trelles MP, Johnson K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Buxbaum JD, Sahin M, Kolevzon A, Srivastava S; Developmental Synaptopathies Consortium. Levy T, et al. J Neurodev Disord. 2024 May 10;16(1):25. doi: 10.1186/s11689-024-09541-0. J Neurodev Disord. 2024. PMID: 38730350 Free PMC article.
500 results