E-LIB Suche - Ergebnisse für: Kagami, Shoji

1

Functionally confirmed compound heterozygous ADAM17 missens..:

Imoto, Issei ; Saito, Masako ; Suga, Kenichi...
http://repo.lib.tokushima-u.ac.jp/files/public/11/116631/2021122814402056750/srep_11_9552.pdf. , 2022

Link: http://repo.lib.tokushim..

2

Novel method utilizing bisulfite conversion with dual ampli..:

Okada, Asami ; Yamada-Yamashita, Misuzu ; Tominaga, Yukari...
http://repo.lib.tokushima-u.ac.jp/files/public/11/117206/20220713155323224695/k3641_abstract.pdf. , 2022

Link: http://repo.lib.tokushim..

3

Neonatal rebound hyperkalemia associated with ritodrine alo..:

Osumi, Keita ; Suga, Kenichi ; Suzue, Masashi..
http://repo.lib.tokushima-u.ac.jp/files/public/11/117418/20220901135110275003/bmcp_21_370.pdf. , 2022

Link: http://repo.lib.tokushim..

4

A novel frameshift mutation of CHD7 in a Japanese patient w..:

Kohmoto, Tomohiro ; Shono, Miki ; Naruto, Takuya...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115135/20200825164318702506/hgv_3_16004.pdf. , 2021

Link: http://repo.lib.tokushim..

5

Clinical guides for atypical hemolytic uremic syndrome in J..:

Kato, Hideki ; Nangaku, Masaomi ; Hataya, Hiroshi...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115679/20210209165110899588/ped_58_7_549.pdf. , 2021

Link: http://repo.lib.tokushim..

6

The first Japanese patient with mandibular hypoplasia, deaf..:

Okada, Asami ; Kohmoto, Tomohiro ; Naruto, Takuya...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115129/20200825153653706653/hgv_4_17031.pdf. , 2021

Link: http://repo.lib.tokushim..

7

A novel missense mutation of COL5A2 in a patient with Ehler..:

Watanabe, Miki ; Nakagawa, Ryuji ; Naruto, Takuya...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115132/20200825160045210599/hgv_3_16030.pdf. , 2021

Link: http://repo.lib.tokushim..

8

Detection of 1p36 deletion by clinical exome-first diagnost..:

Watanabe, Miki ; Hayabuchi, Yasunobu ; Ono, Akemi...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115133/20200825160933873146/hgv_3_16006.pdf. , 2021

Link: http://repo.lib.tokushim..

9

Re-recognition of Age-dependent Reference Range for the Ser..:

Ono, Hiroyuki ; Nagai, Kojiro ; Shibata, Eriko...
http://repo.lib.tokushima-u.ac.jp/files/public/11/114406/20200317151907588435/internalmedicine_56_16_2187.pdf. , 2021

Link: http://repo.lib.tokushim..

10

Persistent and Stable Growth Promoting Effects of Vosoritid..:

Savarirayan, Ravi ; Tofts, Louise ; Irving, Melita...
qt1549x11s. , 2021

Link: https://escholarship.org..

11

Molecular diagnosis of an infant with TSC2/PKD1 contiguous ..:

Osumi, Keita ; Suga, Kenichi ; Ono, Akemi...
http://repo.lib.tokushima-u.ac.jp/files/public/11/116193/20210825165050368452/hgv_7_21.pdf. , 2021

Link: http://repo.lib.tokushim..

12

Exome-first approach identified a novel gloss deletion asso..:

Watanabe, Miki ; Nakagawa, Ryuji ; Kohmoto, Tomohiro...
http://repo.lib.tokushima-u.ac.jp/files/public/11/115131/20200825155404941697/hgv_3_16037.pdf. , 2021

Link: http://repo.lib.tokushim..

13

A novel index equivalent to the myocardial performance inde..:

Hayabuchi, Yasunobu ; Homma, Yukako ; Kagami, Shoji
http://repo.lib.tokushima-u.ac.jp/files/public/11/114128/20200110163329277359/srep_9_19975.pdf. , 2020

Link: http://repo.lib.tokushim..

14

Multi-delay arterial spin labeling brain magnetic resonance..:

Mori, Tatsuo ; Ito, Hiromichi ; Harada, Masafumi...
http://repo.lib.tokushima-u.ac.jp/files/public/11/114394/20200413095412110137/braindev_42_4_315.pdf. , 2020

Link: http://repo.lib.tokushim..

15

SAT-LB18 A Randomized Controlled Trial of Vosoritide in Chi..:

Savarirayan, Ravi ; Tofts, Louise ; Irving, Melita...
qt3b3920wp. , 2020

Link: https://escholarship.org..