E-LIB Suche - Ergebnisse für: Miya, Fuyuki

1

GATA2 deficiency of a novel missense variant with multiorga..:

Baba, Hiroyuki ; Kimura, Naoki ; Kanegane, Hirokazu...
Rheumatology. , 2024

Link: https://doi.org/10.1093/..

2

Successful skipping of abnormal pseudoexon by antisense oli..:

Yamada, Mamiko ; Maeta, Kazuhiro ; Suzuki, Hisato...
Scientific Reports. 14 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

3

SALL4 deletion and kidney and cardiac defects associated wi..:

Watanabe, Daisuke ; Nakato, Daisuke ; Yamada, Mamiko...
Pediatric Nephrology. , 2024

Link: https://doi.org/10.1007/..

4

Truncating variants of the sterol recognition region of SHH..:

Yamada, Mamiko ; Mizuno, Seiji ; Inaba, Mie...
American Journal of Medical Genetics Part A. , 2024

Link: https://doi.org/10.1002/..

5

Topologically associating domain underlies tissue specific ..:

Hamba, Yu ; Kamatani, Takashi ; Miya, Fuyuki..
iScience. 26 (2023) 5 - p. 106640 , 2023

Link: https://doi.org/10.1016/..

6

Time-dependent cell-state selection identifies transiently ..:

Tanaka, Yumiko ; Yamagishi, Mai ; Motomura, Yasutaka...
Communications Biology. 6 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

7

Precise definition of the breakpoints of an apparently bala..:

Yamada, Mamiko ; Suzuki, Hisato ; Miya, Fuyuki...
Congenital Anomalies. 63 (2023) 4 - p. 121-124 , 2023

Link: https://doi.org/10.1111/..

8

Heterozygous loss-of-function DHX9 variants are associated ..:

Yamada, Mamiko ; Nitta, Yohei ; Uehara, Tomoko...
European Journal of Medical Genetics. 66 (2023) 8 - p. 104804 , 2023

Link: https://doi.org/10.1016/..

9

Simple and efficient differentiation of human iPSCs into co..:

Rashid, Muhammad Irfanur ; Ito, Takuji ; Miya, Fuyuki...
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

10

Molecular basis of carotid body tumor and associated clinic..:

Yoshihama, Keisuke ; Mutai, Hideki ; Sekimizu, Mariko...
Clinical Genetics. 103 (2023) 4 - p. 466-471 , 2023

Link: https://doi.org/10.1111/..

11

A case of infantile epileptic spasms syndrome and autism sp..:

Torio, Michiko ; Maeda, Kenichi ; Akamine, Satoshi...
Seizure: European Journal of Epilepsy. 112 (2023) - p. 11-14 , 2023

Link: https://doi.org/10.1016/..

12

Café-au-lait Spots and Cleft Palate: Not a Chance Associati..:

Yamada, Mamiko ; Tanito, Katsumi ; Suzuki, Hisato...
The Cleft Palate Craniofacial Journal. , 2023

Link: https://doi.org/10.1177/..

13

Neurochemistry evaluated by magnetic resonance spectroscopy..:

Sano, Kentaro ; Miya, Fuyuki ; Kato, Mitsuhiro..
Brain and Development. 45 (2023) 10 - p. 583-587 , 2023

Link: https://doi.org/10.1016/..

14

Diagnosis of Prader-Willi syndrome and Angelman syndrome by..:

Yamada, Mamiko ; Okuno, Hironobu ; Okamoto, Nobuhiko...
European Journal of Medical Genetics. 66 (2023) 2 - p. 104690 , 2023

Link: https://doi.org/10.1016/..

15

First phase 1 clinical study of olaparib in pediatric patie..:

Takagi, Masatoshi ; Ogawa, Chitose ; Iehara, Tomoko...
Cancer. , 2022

Link: https://doi.org/10.1002/..