臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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Institution	Date	Title	Author
臺大學術典藏	2020-12-09T01:38:15Z	Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey	Mak C.C.;Leung G.K.;Mok G.T.;Yeung K.S.;Yang W.;Fung C.-W.;Chan S.H.;Lee S.-L.;Ni-Chung Lee;Pfundt R.;Lau Y.-L.;Chung B.H.; Mak C.C.; Leung G.K.; Mok G.T.; Yeung K.S.; Yang W.; Fung C.-W.; Chan S.H.; Lee S.-L.; NI-CHUNG LEE; Pfundt R.; Lau Y.-L.; Chung B.H.
臺大學術典藏	2020-02-19T07:21:48Z	NR2F1 mutations cause optic atrophy with intellectual disability	Bosch D.G.M.; Boonstra F.N.; Gonzaga-Jauregui C.; Xu M.; De Ligt J.; Jhangiani S.; Wiszniewski W.; Muzny D.M.; Yntema H.G.; Pfundt R.; Vissers L.E.L.M.; Spruijt L.; Blokland E.A.W.; Chen C.-A.; Lewis R.A.; Tsai S.Y.; Gibbs R.A.; Tsai M.-J.; Lupski J.R.; Zoghbi H.Y.; Cremers F.P.M.; De Vries B.B.A.; Schaaf C.P.; MING-JER TSAI

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