All 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2011 2010 2008 2007 2006 2005 2004 Other
All Journal Article Presentation Book
Journal of Medical Genetics
Volume: Epub ahead of print Pages: 107623-107623
10.1136/jmedgenet-2020-107623
Adv Exp Med Biol
Volume: 1348 Pages: 235-249
10.1007/978-3-030-80614-9_10
Frontiers in Cell and Developmental Biology
Volume: 9 Pages: 695021-695021
10.3389/fcell.2021.695021
Disease Models and Mechanisms
Volume: 14
10.1242/dmm.048963
Glycobiology
Volume: 31 Pages: 137-150
10.1093/glycob/cwaa058
Experimental Animals
Volume: -
130007938664
Genes
Volume: 11 Pages: 43-43
10.3390/genes11010043
120006901092
World Neurosurgery
Volume: 143 Pages: 454-461
10.1016/j.wneu.2020.08.085
Molecular Genetics & Genomic Medicine
Volume: 8
10.1002/mgg3.1197
Nature Reviews Disease Primers
Volume: 6 Pages: 64-64
10.1038/s41572-020-0194-9
Volume: 69 Issue: 4 Pages: 407-413
10.1538/expanim.19-0150
Biochimica et Biophysica Acta (BBA) - General Subjects
Volume: 1863 Pages: 623-631
10.1016/j.bbagen.2018.12.006
Clin. Biochem.
Volume: 50 Pages: 670-677
10.1016/j.clinbiochem.2017.02.018
120006398760
Volume: 28 Pages: 80-89
10.1093/glycob/cwx099
Pharmaceuticals
Volume: 10
10.3390/ph10020034
120006335578
Pediatr Int.
Volume: 58(2) Pages: 88-99
10.1111/ped.12878
J Dermatol
Volume: Epub ahead of print Pages: 0-0
10.1111/1346-8138.13273
Am J Med Genet A.
Volume: 170 Pages: 322-328
10.1002/ajmg.a.37432
Acta Derm Venereol
Volume: - Pages: 0-0
10.2340/00015555-2390
Volume: 167A(10) Pages: 2435-2439
10.1002/ajmg.a.37202
Am J Med Genet Part A
Volume: 167 Pages: 592-601
10.1002/ajmg.a.36942
Interv Neuroradiol
Volume: 21(3) Pages: 341-345
10.1177/1591019915582380
Am J Med Genet C Semin Med Genet
Volume: 166C Pages: 241-251
10.1002/ajmg.c.31415
Am J Med Genet A
Volume: 164A Pages: 324-330
10.1002/ajmg.a.36294
日本遺伝カウンセリング学会誌
Volume: 35 Pages: 15-26
Volume: 166C Pages: 262-275
10.1002/ajmg.c.31407
Volume: 9999 Pages: 1272-1276
10.1002/ajmg.a.36433
医学のあゆみ増刊号「遺伝子医療の現状とゲノム医療の近未来」
Volume: 250 Pages: 343-348
Volume: 802 Pages: 145-159
10.1007/978-94-007-7893-1_10
松本市医師会報
Volume: 559 Pages: 4-11
Volume: 164A Pages: 597-609
10.1002/ajmg.a.36308
Volume: 34 Pages: 21-29
130004551825
病理と臨床
Volume: 31 Pages: 852-860
American Journal of Medical Genetics A (in press)
American Journal of Medical Genetics A (152)
Pages: 1333-1346
Human Mutation (8)
Pages: 966-974
American Journal of Human Genetics A
Volume: 152 Pages: 1333-1346
Am J Med Genet A 146
Am J Med Genet A 143
Pages: 2598-2603
長野県小児科医会会報 45
Pages: 16-22
Clin Dysmorphol 17
Pages: 31-34
日本未熟児新生児学会雑誌 19
Pages: 38-42
10019538156
周産期医学 37
Pages: 91-96
長野医報 540
Pages: 27-31
130004551693
American Journal of Medical Genetics 140A
Pages: 937-944
周産期医学 36
Pages: 870-871
American Journal of Medical Genetics 未
小児の治療指針 (小児科診療増刊号) 69 supple
Pages: 887-890
Am J Med Genet 140A
Pages: 446-450
小児科 46
Pages: 909-915
周産期医学 35
Pages: 529-534
小児科診療 68
Pages: 950-952
小児科診療 67
Pages: 221-227
母子保健 542
Pages: 7-7
