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All Journal Article Presentation Book
Annals of Neurology
Volume: － Pages: 927-933
10.1002/ana.25481
EBioMedicine.
Volume: 42 Pages: 43-53
10.1016/j.ebiom.2019.03.014
Journal of Human Genetics
Volume: 64 Pages: 499-504
10.1038/s10038-019-0579-3
Hum Genet.
Volume: 138 Pages: 21-35
10.1007/s00439-018-1951-7
J Hum Genet.
Volume: in press
Clin Case Rep.
Volume: 6 Pages: 1202-1207
10.1002/ccr3.1568
Volume: 27 Pages: 138-150
10.1016/j.ebiom.2017.11.029
Hum Mol Genet.
Volume: 26 Pages: 4715-4727
10.1093/hmg/ddx354
Congenital Anomalies
Volume: 印刷中 Issue: 6 Pages: 201-204
10.1111/cga.12214
Am J Med Genet A
Volume: 173 Pages: 2346-2352
10.1002/ajmg.a.38337
Volume: 61 Pages: 33-39
10.1038/jhg.2015.114
40020859216
Am J Med Genet A.
Volume: 170 Pages: 189-194
10.1002/ajmg.a.37376
J. Hum. Genet.
Volume: advance online publication Pages: 547-53
10.1038/jhg.2016.12
40020857122
Hum Genet
Volume: 135 Pages: 209-22
10.1007/s00439-015-1627-5
Dig Dis Sci.
Volume: -
10.1007/s10620-014-3476-9
Volume: 134 Pages: 649-58
10.1007/s00439-015-1553-6
Human molecular genetics
Volume: 24 Pages: 7349-60
10.1093/hmg/ddv435
Am. J. Hum. Genet.
Volume: 97 Pages: 848-54
10.1016/j.ajhg.2015.10.010
Ａｍ Ｊ Ｍｅｄ Ｇｅｎｅｔ Ａ
Volume: 167A Pages: 2223-2225
10.1002/ajmg.a.37135
Volume: in press Pages: 777-785
10.1002/ajmg.a.36987
Volume: 167 Pages: 407-411
10.1002/ajmg.a.36842
Human Molecular Genetics
Volume: 23 Pages: 6533-6566
10.1093/hmg/ddu376
Brain Dev.
Volume: 36(1) Pages: 61-3
10.1016/j.braindev.2012.12.007
PLos One
Volume: 9(3)
10.1371/journal.pone.0091598
Hepatol Res.
Volume: 44(6) Pages: 678-684
10.1111/hepr.12168
Neuromuscul Disord.
Volume: 24(12) Pages: 1068-1072
10.1016/j.nmd.2014.07.008
American Journal of Human Genetics
Volume: Volume 93, Issue 1 Pages: 173-180
10.1016/j.ajhg.2013.05.021
Volume: 58(5) Pages: 1782-1797
10.1038/jhg.2013.9
10031177220
Leuk Res.
Volume: 36(8) Pages: 1009-1015
10.1016/j.leukres.2012.04.018
Volume: 21 Pages: 1496-1503
10.1093/hmg/ddr585
Am J Med GenetA
Volume: 158A(5) Pages: 1083-1094
Volume: (accepted)(Epub ahead of print) Pages: 1083-1094
10.1002/ajmg.a.35292
Volume: 33(7) Pages: 576-579
10.1016/j.braindev.2010.10.006
10031121955
J Hum Genet 56(1)
Pages: 34-40
10030657293
J Hum Genet
Volume: 56 Pages: 707-715
10030661239
Volume: 56(10) Pages: 707-15
10.1038/jhg.2011.85
J Human Genetics
Volume: 56(1) Pages: 168-175
10.1038/jhg.2010.132
J Pediatr Hematol Oncol. [Epub ahead of print]
Hum Mutat 31(3)
Pages: 284-294
Brain Dev [Epub ahead of print]
J Hum Genet 55(12)
Pages: 801-809
10030737892
小児科診療 72巻増刊
Pages: 31-31
Pages: 60-60
Pages: 68-68
J Hum Genet 53
Pages: 834-41
10021929483
Hum Mutat 29
Pages: 992-1006
J Med Genet 44
Pages: 763-71
Am J Med Genet A 143A
Pages: 799-807
J Pediatr Hematol Oncol 29
Pages: 287-290
