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1Academic Journal
المؤلفون: Lee, John Y. W., Hsu, Chao-Kai, Michael, Magdalene, Nanda, Arti, Liu, Lu, McMillan, James R., Pourreyron, Celine, Takeichi, Takuya, Tolar, Jakub, Reid, Evan, Hayday, Thomas, Blumen, Sergiu C., Abu-Mouch, Saif, Straussberg, Rachel, Basel-Vanagaite, Lina, Barhum, Yael, Zouabi, Yasmin, Al-Ajmi, Hejab, Huang, Hsin-Yu, Lin, Ting-Chien, Akiyama, Masashi, Lee, Julia Y. Y., McLean, W. H. Irwin, Simpson, Michael A., Parsons, Maddy, McGrath, John A.
المصدر: Lee , J Y W , Hsu , C-K , Michael , M , Nanda , A , Liu , L , McMillan , J R , Pourreyron , C , Takeichi , T , Tolar , J , Reid , E , Hayday , T , Blumen , S C , Abu-Mouch , S , Straussberg , R , Basel-Vanagaite , L , Barhum , Y , Zouabi , Y , Al-Ajmi , H , Huang , H-Y , Lin , T-C , Akiyama , M , Lee , J Y Y , McLean , W H I ....
مصطلحات موضوعية: Mutation, Deletion, DSTYK, Autosomal-recessive, Hereditary spastic paraplegia, Spastic Paraplegia 23, Gene amplification, Whole-exome sequencing, Pigmentation, Vitiligo
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2Academic Journal
المؤلفون: Straussberg, Rachel, Onoufriadis, Alexandros, Konen, Osnat, Zouabi, Yasmin, Cohen, Lior, Lee, John Y W, Hsu, Chao-Kai, Simpson, Michael A., McGrath, John A.
المصدر: Straussberg , R , Onoufriadis , A , Konen , O , Zouabi , Y , Cohen , L , Lee , J Y W , Hsu , C-K , Simpson , M A & McGrath , J A 2017 , ' Novel homozygous missense mutation in NT5C2 underlying Hereditary Spastic Paraplegia SPG45 ' , American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.38414
وصف الملف: application/pdf