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Kinematic assessment of stereotypy in spontaneous movements in infants.
Karch D, Kang KS, Wochner K, Philippi H, Hadders-Algra M, Pietz J, Dickhaus H. Karch D, et al. Among authors: philippi h. Gait Posture. 2012 Jun;36(2):307-11. doi: 10.1016/j.gaitpost.2012.03.017. Epub 2012 Apr 13. Gait Posture. 2012. PMID: 22503388 Free article.
Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants.
Gauquelin L, Cayami FK, Sztriha L, Yoon G, Tran LT, Guerrero K, Hocke F, van Spaendonk RML, Fung EL, D'Arrigo S, Vasco G, Thiffault I, Niyazov DM, Person R, Lewis KS, Wassmer E, Prescott T, Fallon P, McEntagart M, Rankin J, Webster R, Philippi H, van de Warrenburg B, Timmann D, Dixit A, Searle C; DDD Study,; Thakur N, Kruer MC, Sharma S, Vanderver A, Tonduti D, van der Knaap MS, Bertini E, Goizet C, Fribourg S, Wolf NI, Bernard G. Gauquelin L, et al. Among authors: philippi h. Neurol Genet. 2019 Oct 30;5(6):e369. doi: 10.1212/NXG.0000000000000369. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042905 Free PMC article.
52 results