E-LIB Suche - Ergebnisse für: Kosaki, Kenjiro

1

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

Yamada, Mamiko ; Mizuno, Seiji ; Inaba, Mie...
American Journal of Medical Genetics Part A. 194 (2024) 8 - p. , 2024

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

2

Novel germline STAT3 gain-of-function mutation causes autoi..:

Saito, Koji ; Fujimoto, Minoru ; Funajima, Eiji...
Journal of Allergy and Clinical Immunology: Global. , 2024

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

3

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

Watanabe, Daisuke ; Nakato, Daisuke ; Yamada, Mamiko...
Pediatric Nephrology. 39 (2024) 8 - p. 2347-2349 , 2024

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

4

Reduced histone H3K4 trimethylation in oral mucosa of patie..:

Sugeno, Naoto ; Kumada, Satoko ; Kashii, Hirofumi...
Parkinsonism & Related Disorders. 124 (2024) - p. 107018 , 2024

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

5

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

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

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

6

Biallelic loss-of-function variants in the centriolar prote..:

Suzuki, Hisato ; Muramatsu, Yukako ; Miya, Fuyuki...
European Journal of Medical Genetics. 70 (2024) - p. 104955 , 2024

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

7

Forebrain commissure formation in zebrafish embryo requires..:

Li, Simo ; Guo, Youjia ; Takahashi, Miyuki...
Developmental Neurobiology. 84 (2024) 3 - p. 203-216 , 2024

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

8

Identification of a novel splice‐site WWOX variant with pat..:

Nishino, Megumi ; Tanaka, Mai ; Imagawa, Kazuo...
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

9

A novel missense variant of FGD1 disruptscritical cysteine ..:

Takahashi, Ikuko ; Noguchi, Atsuko ; Kondo, Daiki...
Clinical Pediatric Endocrinology. 33 (2024) 1 - p. 39-42 , 2024

Link: https://doi.org/10.1297/..

10

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/..

11

Gene-specific somatic epigenetic mosaicism of FDFT1 underli..:

Saito, Sonoko ; Saito, Yuki ; Sato, Showbu...
The American Journal of Human Genetics. 111 (2024) 5 - p. 896-912 , 2024

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

12

Loss of function in NSD2 causes DNA methylation signature s..:

Kawai, Tomoko ; Kinoshita, Shiori ; Takayama, Yuka...
Genetics in Medicine Open. 2 (2024) - p. 101838 , 2024

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

13

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/..

14

X ‐linked inheritance of primary ciliary dyskinesia and ret..:

Kuroda, Aoi ; Namkoong, Ho ; Iwami, Eri...
Respirology Case Reports. 11 (2023) 12 - p. , 2023

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

15

Atypical clinical course in two patients with GNB1 variants..:

Tsuji, Megumi ; Ikeda, Azusa ; Tsuyusaki, Yu...
Brain and Development. 45 (2023) 8 - p. 462-466 , 2023

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