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J Hum Genet.
Volume: in press
Human Molecular Genetics
Volume: 28 Pages: 74-83
10.1093/hmg/ddy333
EBioMedicine.
Volume: 42 Pages: 43-53
10.1016/j.ebiom.2019.03.014
Hum Genet.
Volume: 138 Pages: 21-35
10.1007/s00439-018-1951-7
Clin Case Rep.
Volume: 6 Pages: 1202-1207
10.1002/ccr3.1568
Volume: 27 Pages: 138-150
10.1016/j.ebiom.2017.11.029
Am J Med Genet A
Volume: 173 Pages: 2346-2352
10.1002/ajmg.a.38337
Congenital Anomalies
Volume: 印刷中 Issue: 6 Pages: 201-204
10.1111/cga.12214
Hum Mol Genet.
Volume: 26 Pages: 4715-4727
10.1093/hmg/ddx354
Am J Med Genet A.
Volume: 170 Pages: 189-194
10.1002/ajmg.a.37376
Volume: 61 Pages: 33-39
10.1038/jhg.2015.114
40020859216
Hum Genet
Volume: 135 Pages: 209-22
10.1007/s00439-015-1627-5
Volume: in press Pages: 777-785
10.1002/ajmg.a.36987
Human molecular genetics
Volume: 24 Pages: 7349-60
10.1093/hmg/ddv435
Ａｍ Ｊ Ｍｅｄ Ｇｅｎｅｔ Ａ
Volume: 167A Pages: 2223-2225
10.1002/ajmg.a.37135
Volume: 167 Pages: 407-411
10.1002/ajmg.a.36842
Am. J. Hum. Genet.
Volume: 97 Pages: 848-54
10.1016/j.ajhg.2015.10.010
Dig Dis Sci.
Volume: -
10.1007/s10620-014-3476-9
Volume: 134 Pages: 649-58
10.1007/s00439-015-1553-6
Volume: 23 Pages: 4315-4327
10.1093/hmg/ddu148
Neuromuscul Disord.
Volume: 24(12) Pages: 1068-1072
10.1016/j.nmd.2014.07.008
Volume: 23 Pages: 6533-6566
10.1093/hmg/ddu376
Int J Cardiol.
Volume: 173
10.1016/j.ijcard.2014.03.135
Journal of Human Genetics
Volume: 58(5) Pages: 1782-1797
10.1038/jhg.2013.9
10031177220
Acta Derm Venereol
Volume: 93 Pages: 120-121
10.2340/00015555-1399
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
J Hum Genet
Volume: 56(1) Pages: 34-40
10030657293
Brain Dev.
Volume: 33(7) Pages: 576-579
10.1016/j.braindev.2010.10.006
10031121955
Volume: 155A(10) Pages: 2529-2533
10.1002/ajmg.a.34194
Volume: 155A(1) Pages: 192-196
10.1002/ajmg.a.33764
Brain Dev
Volume: 33(2) Pages: 166-169
10.1016/j.braindev.2010.03.008
10029560675
J Human Genetics
Volume: 56(1) Pages: 168-175
10.1038/jhg.2010.132
Volume: 56(10) Pages: 707-15
10.1038/jhg.2011.85
10030661239
Volume: 155A(1) Pages: 192-6
Volume: 33(2) Pages: 166-9
Human Mutation
Volume: 31(3) Pages: 284-94
J Pediatr Hematol Oncol
Hum Mutat 31
Pages: 284-294
Volume: 55(12) Pages: 801-809
10030737892
Hum Mutat
Volume: 29(8) Pages: 992-1006
Volume: 146A(9) Pages: 1205-17
Hum Mutat (印刷中)
Pediatr Res
Volume: 64 Pages: 228-233
Hum Mutat 29(8)
Pages: 992-1006
J Hum Genet 53
Pages: 834-841
10021929483
Hum Mutat 29
Cleft Palate Craniofac J
Volume: 45(3) Pages: 261-6
Volume: 53 Pages: 834-841
Mol Genet Metab 91
Pages: 384-389
J Med Genet 44
Seikagaku 79
Pages: 34-38
Am J Med Genet Part A 143A
Pages: 799-807
10018514179
Am J Med Genet 44
Pages: 763-771
生化学
J Med Genet A 143
Stroke 38
Pages: 2157-2164
J Pediatr Hematol Oncol 29
Pages: 287-290
Nat Genet 38
Pages: 294-296
Signal Tranduction Diseases (Medical-Do)
Pages: 306-311
Ann Neurol 59
Pages: 862-867
J Hum Genet 51
Pages: 455-460
10019168005
Hum Mutat 27
Pages: 343-352
遺伝子医学Mook 「シグナル伝達病を知る」 6
Pages: 306-312
Nat Genet 37
Pages: 1038-1040
Hum Mutat (in press)
