公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
---|---|---|---|---|---|---|
2020 | Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2 | PAUL-CHEN HSIEH ; Chen-Chi Wu ; NI-CHUNG LEE ; JUNG-HSIEN HSIEH ; YI-HUA LIAO | Dermatologica Sinica | 0 | 0 | |
2022 | Whole exome sequencing identifies a novel FRAS1 mutation and aids in vitro fertilization with preimplantation genetic diagnosis in Fraser syndrome | Ou, Tsung-Ying; Tsai, Meng-Che; Kuo, Pao-Lin; NI-CHUNG LEE ; Chou, Yen-Yin | Taiwanese journal of obstetrics & gynecology | 1 | 0 | |
2018 | Williams–Beuren syndrome in diverse populations | Kruszka P.; Porras A.R.; de Souza D.H.; Moresco A.; Huckstadt V.; Gill A.D.; Boyle A.P.; Hu T.; Addissie Y.A.; Mok G.T.K.; Tekendo-Ngongang C.; Fieggen K.; Prijoles E.J.; Tanpaiboon P.; Honey E.; Luk H.-M.; Lo I.F.M.; Thong M.-K.; Muthukumarasamy P.; Jones K.L.; Belhassan K.; Ouldim K.; El Bouchikhi I.; Bouguenouch L.; Shukla A.; Girisha K.M.; Sirisena N.D.; Dissanayake V.H.W.; Paththinige C.S.; Mishra R.; Kisling M.S.; Ferreira C.R.; de Herreros M.B.; NI-CHUNG LEE ; Jamuar S.S.; Lai A.; Tan E.S.; Ying Lim J.; Wen-Min C.B.; Gupta N.; Lotz-Esquivel S.; Badilla-Porras R.; Hussen D.F.; El Ruby M.O.; Ashaat E.A.; Patil S.J.; Dowsett L.; Eaton A.; Innes A.M.; Shotelersuk V.; Badoe ?.; Wonkam A.; Obregon M.G.; Chung B.H.Y.; Trubnykova M.; La Serna J.; Gallardo Jugo B.E.; Ch?vez Pastor M.; Abarca Barriga H.H.; Megarbane A.; Kozel B.A.; van Haelst M.M.; Stevenson R.E.; Summar M.; Adeyemo A.A.; Morris C.A.; Moretti-Ferreira D.; Linguraru M.G.; Muenke M. | American Journal of Medical Genetics, Part A | 53 | 52 | |
2006 | α-Galactosidase activity should be examined in patients with proteinuria: What have we learned from a family affected with Fabry disease? [5] | NI-CHUNG LEE ; Niu D.-M.; Lin C.-Y.; Hsiao K.-J.; Yang A.-H.; Ng Y.-Y. | Nephrology Dialysis Transplantation | 4 | 3 |