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Year Number of Results
2000 1
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2004 3
2005 2
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2008 6
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2010 11
2011 3
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2013 9
2014 4
2015 2
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70 results

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Page 1
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios.
Bishop MR, Diaz Perez KK, Sun M, Ho S, Chopra P, Mukhopadhyay N, Hetmanski JB, Taub MA, Moreno-Uribe LM, Valencia-Ramirez LC, Restrepo Muñeton CP, Wehby G, Hecht JT, Deleyiannis F, Weinberg SM, Wu-Chou YH, Chen PK, Brand H, Epstein MP, Ruczinski I, Murray JC, Beaty TH, Feingold E, Lipinski RJ, Cutler DJ, Marazita ML, Leslie EJ. Bishop MR, et al. Among authors: wu chou yh. Am J Hum Genet. 2020 Jul 2;107(1):124-136. doi: 10.1016/j.ajhg.2020.05.018. Epub 2020 Jun 22. Am J Hum Genet. 2020. PMID: 32574564 Free PMC article.
EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.
Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. Kuipers DJS, et al. Among authors: wu chou yh. Ann Neurol. 2021 Mar;89(3):485-497. doi: 10.1002/ana.25973. Epub 2020 Dec 15. Ann Neurol. 2021. PMID: 33236446 Free PMC article.
PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.
Fevga C, Tesson C, Carreras Mascaro A, Courtin T, van Coller R, Sakka S, Ferraro F, Farhat N, Bardien S, Damak M, Carr J, Ferrien M, Boumeester V, Hundscheid J, Grillenzoni N, Kessissoglou IA, Kuipers DJS, Quadri M; French and Mediterranean Parkinson disease Genetics Study Group; International Parkinsonism Genetics Network; Corvol JC, Mhiri C, Hassan BA, Breedveld GJ, Lesage S, Mandemakers W, Brice A, Bonifati V. Fevga C, et al. Brain. 2023 Apr 19;146(4):1496-1510. doi: 10.1093/brain/awac326. Brain. 2023. PMID: 36073231 Free PMC article.
Screening for C9orf72 repeat expansions in parkinsonian syndromes.
Yeh TH, Lai SC, Weng YH, Kuo HC, Wu-Chou YH, Huang CL, Chen RS, Chang HC, Traynor B, Lu CS. Yeh TH, et al. Among authors: wu chou yh. Neurobiol Aging. 2013 Apr;34(4):1311.e3-4. doi: 10.1016/j.neurobiolaging.2012.09.002. Epub 2012 Oct 11. Neurobiol Aging. 2013. PMID: 23063644 Free PMC article.
Lower lip pits: van der woude or kabuki syndrome?
David-Paloyo FP, Yang X, Lin JL, Wong FH, Wu-Chou YH, Lo LJ. David-Paloyo FP, et al. Among authors: wu chou yh. Cleft Palate Craniofac J. 2014 Nov;51(6):729-34. doi: 10.1597/12-258. Epub 2013 Oct 2. Cleft Palate Craniofac J. 2014. PMID: 24088119
Large SGCE deletion contributes to Taiwanese myoclonus-dystonia syndrome.
Huang CL, Lan MY, Chang YY, Hsu CY, Lai SC, Chen RS, Chang HC, Lu CS, Wu-Chou YH. Huang CL, et al. Among authors: wu chou yh. Parkinsonism Relat Disord. 2010 Nov;16(9):585-9. doi: 10.1016/j.parkreldis.2010.06.016. Epub 2010 Aug 30. Parkinsonism Relat Disord. 2010. PMID: 20800530
X-linked markers in the Duchenne muscular dystrophy gene associated with oral clefts.
Patel PJ, Beaty TH, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Wu T, Murray T, Rose M, Redett RJ, Jin SC, Lie RT, Wu-Chou YH, Wang H, Ye X, Yeow V, Chong S, Jee SH, Shi B, Scott AF. Patel PJ, et al. Among authors: wu chou yh. Eur J Oral Sci. 2013 Apr;121(2):63-8. doi: 10.1111/eos.12025. Eur J Oral Sci. 2013. PMID: 23489894 Free PMC article.
70 results