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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8.
Hum Genet. 2022.
PMID: 34748075
Free article.
A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features.
Kellaris G, Khan K, Baig SM, Tsai IC, Zamora FM, Ruggieri P, Natowicz MR, Katsanis N.
Kellaris G, et al. Among authors: zamora fm.
Hum Genomics. 2018 Mar 1;12(1):11. doi: 10.1186/s40246-018-0141-y.
Hum Genomics. 2018.
PMID: 29490693
Free PMC article.
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MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity.
Shafique A, Arif B, Chu ML, Moran E, Hussain T, Zamora FM, Wohler E, Sobreira N, Klein C, Lohmann K, Naz S.
Shafique A, et al. Among authors: zamora fm.
J Med Genet. 2023 Apr;60(4):352-358. doi: 10.1136/jmg-2022-108521. Epub 2022 Aug 24.
J Med Genet. 2023.
PMID: 36002240
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Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Bauman…
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Zech M, et al. Among authors: zamora fm.
Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4.
Lancet Neurol. 2020.
PMID: 33098801
Free PMC article.
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[Congenital myogenic blepharoptosis: indications of treatment and results of 50 cases].
Gutiérrez JC, Zamora FM, Quiñones SM, Bertomeu JP, Ginebreda JA.
Gutiérrez JC, et al. Among authors: zamora fm.
Cir Pediatr. 2008 Oct;21(4):214-8.
Cir Pediatr. 2008.
PMID: 18998371
Spanish.
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