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Kikuchi, Atsuo
265  results:
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1

Phenotypic and genetic spectra of galactose mutarotase defi..:

Mikami-Saito, Yasuko ; Wada, Yoichi ; Arai-Ichinoi, Natsuko...
Genetics in Medicine.  26 (2024)  8 - p. 101165 , 2024
Link: https://doi.org/10.1016/..
 
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2

CHARGE syndrome in a child with a CHD7 variant and a novel ..:

Kamimura, Miki ; Shima, Hirohito ; Suzuki, Erina...
Clinical Pediatric Endocrinology.  , 2024
Link: https://doi.org/10.1297/..
 
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3

A case of 49,XXXYY followed-up from infancy to adulthood wi..:

Kanno, Junko ; Miura, Akinobu ; Kawashima, Sayaka...
Endocrine Journal.  , 2024
Link: https://doi.org/10.1507/..
 
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4

Upregulation of hepatic nuclear receptors in extremely pret..:

Ikeda, Hideyuki ; Watanabe, Shimpei ; Sato, Shinichi...
The Journal of Maternal-Fetal & Neonatal Medicine.  37 (2024)  1 - p. , 2024
Link: https://doi.org/10.1080/..
 
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5

Case Report: Identification of a CARD8 variant in all three..:

Nakamura, Haruhiko ; Kikuchi, Atsuo ; Sakai, Hideyuki...
Frontiers in Pediatrics.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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6

Long‐term clinical observation of patients with heterozygou..:

Kawashima, Aritomo ; Kodama, Kaori ; Okubo, Yukimune...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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7

Genetic etiology of truncus arteriosus excluding 22q11.2 de..:

Yaoita, Hisao ; Kawai, Eiichiro ; Takayama, Jun...
Journal of Human Genetics.  69 (2024)  5 - p. 177-183 , 2024
Link: https://doi.org/10.1038/..
 
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8

Functional variants in a TTTG microsatellite on 15q26.1 cau..:

Narumi, Satoshi ; Nagasaki, Keisuke ; Kiriya, Mitsuo...
Nature Genetics.  56 (2024)  5 - p. 869-876 , 2024
Link: https://doi.org/10.1038/..
 
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9

Efficacy of rituximab for the treatment and prevention of a..:

Katayama, Saori ; Nakano, Tomohiro ; Suzuki, Tasuku...
Clinical Immunology Communications.  5 (2024)  - p. 34-40 , 2024
Link: https://doi.org/10.1016/..
 
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10

Feasible point-of-care testing method for monitoring blood ..:

Wada, Yoichi ; Totsune, Eriko ; Mikami-Saito, Yasuko...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108170 , 2024
Link: https://doi.org/10.1016/..
 
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11

Treatment of ZC4H2 Variant-Associated Spastic Paraplegia wi..:

Inotani, Toshiki ; Horaguchi, Akira ; Morishita, Yuko...
The Tohoku Journal of Experimental Medicine.  262 (2024)  4 - p. 239-244 , 2024
Link: https://doi.org/10.1620/..
 
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12

A case of long-term survival of SADDAN treated with growth ..:

Kanno, Junko ; Katata, Yu ; Kawashima, Sayaka...
Clinical Pediatric Endocrinology.  33 (2024)  3 - p. 144-150 , 2024
Link: https://doi.org/10.1297/..
 
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13

Correction: Genetic etiology of truncus arteriosus excludin..:

Yaoita, Hisao ; Kawai, Eiichiro ; Takayama, Jun...
Journal of Human Genetics.  69 (2024)  5 - p. 185-185 , 2024
Link: https://doi.org/10.1038/..
 
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14

Severe growth retardation during carbohydrate restriction i..:

Kawashima, Sayaka ; Sogi, Chisumi ; Kamimura, Miki..
Clinical Pediatric Endocrinology.  33 (2024)  3 - p. 181-186 , 2024
Link: https://doi.org/10.1297/..
 
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15

Artificial placenta support of extremely preterm ovine fetu..:

Usuda, Haruo ; Ikeda, Hideyuki ; Watanabe, Shimpei...
Frontiers in Physiology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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