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Suzuki, Hisato
387  results:
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1

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/..
 
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2

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/..
 
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3

Gut microbiota of one-and-a-half-year-old food-allergic and..:

Hara, Monami ; Suzuki, Hisato ; Hayashi, Daisuke...
Allergology International.  , 2024
Link: https://doi.org/10.1016/..
 
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4

Forebrain commissure formation in zebrafish embryo requires..:

Li, Simo ; Guo, Youjia ; Takahashi, Miyuki...
Developmental Neurobiology.  , 2024
Link: https://doi.org/10.1002/..
 
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5

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/..
 
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6

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/..
 
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7

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/..
 
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8

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/..
 
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9

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/..
 
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10

Parkinsonism in spinocerebellar ataxia with axonal neuropat..:

Ouchi, Shogo ; Ishii, Kazuhiro ; Kosaki, Kenjiro...
BMC Neurology.  23 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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11

Janus kinase inhibitors ameliorate clinical symptoms in pat..:

Kaneko, Shuya ; Sakura, Fumiaki ; Tanita, Kay...
Immunotherapy Advances.  3 (2023)  1 - p. , 2023
Link: https://doi.org/10.1093/..
 
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12

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/..
 
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13

Familial café‐au‐lait macules associated with in‐frame dele..:

Nakato, Daisuke ; Yamada, Mamiko ; Suzuki, Hisato..
Congenital Anomalies.  63 (2023)  2 - p. 54-55 , 2023
Link: https://doi.org/10.1111/..
 
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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/..
 
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15

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/..
 
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