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Fukuhara, Yasuyuki
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1

Correction to: Antibody Deficiency in Patients with Biallel..:

Saettini, Francesco ; Guerra, Fabiola ; Fazio, Grazia...
Journal of Clinical Immunology.  43 (2023)  8 - p. 2126-2126 , 2023
Link: https://doi.org/10.1007/..
 
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2

Antibody Deficiency in Patients with Biallelic KARS1 Mutati..:

Saettini, Francesco ; Guerra, Fabiola ; Fazio, Grazia...
Journal of Clinical Immunology.  43 (2023)  8 - p. 2115-2125 , 2023
Link: https://doi.org/10.1007/..
 
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3

KARS‐related diseases with macrothrombocytes and pulmonary ..:

Wada, Mako Kimura ; Fukuhara, Yasuyuki ; Hayakawa, Itaru..
Pediatrics International.  65 (2023)  1 - p. , 2023
Link: https://doi.org/10.1111/..
 
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4

Maternal uniparental disomy of chromosome 7 underlying argi..:

Hattori, Atsushi ; Okuyama, Torayuki ; So, Tetsumin...
Human Genome Variation.  9 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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5

cDNA analysis disclosed presumable discordance of genotype-..:

Fukuhara, Yasuyuki ; Miura, Ai ; Yamazaki, Narutoshi...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S45 , 2022
Link: https://doi.org/10.1016/..
 
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6

Natural history of cognitive development in neuronopathic m..:

Seo, JooHyun ; Kosuga, Motomichi ; Fukuhara, Yasuyuki..
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S111 , 2022
Link: https://doi.org/10.1016/..
 
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7

Recessive RYR1-related centronuclear myopathy with congenit..:

Tanaka, Yuichiro ; Fukuhara, Yasuyuki ; Maiberger, Thomas...
Medicine: Case Reports and Study Protocols.  2 (2021)  12 - p. e0190 , 2021
Link: https://doi.org/10.1097/..
 
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8

Natural history of cognitive development in neuronopathic m..:

Seo, Joo-Hyun ; Okuyama, Torayuki ; Shapiro, Elsa..
Molecular Genetics and Metabolism Reports.  24 (2020)  - p. 100630 , 2020
Link: https://doi.org/10.1016/..
 
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9

A cDNA analysis disclosed the discordance of genotype-pheno..:

Fukuhara, Yasuyuki ; Miura, Ai ; Yamazaki, Narutoshi...
Molecular Genetics and Metabolism Reports.  25 (2020)  - p. 100692 , 2020
Link: https://doi.org/10.1016/..
 
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10

Normal early development in siblings with novel compound he..:

Moriwaki, Taro ; Yamazaki, Narutoshi ; So, Tetsumin...
Human Genome Variation.  6 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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11

Early enzyme replacement therapy enables a successful hemat..:

Yamazaki, Narutoshi ; Kosuga, Motomichi ; Kida, Kazuhiro...
Brain and Development.  41 (2019)  6 - p. 546-550 , 2019
Link: https://doi.org/10.1016/..
 
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12

The second report on spondyloepimetaphyseal dysplasia, aggr..:

Fukuhara, Yasuyuki ; Cho, Sung Y. ; Miyazaki, Osamu...
Clinical Dysmorphology.  28 (2019)  1 - p. 26-29 , 2019
Link: https://doi.org/10.1097/..
 
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13

Liver transplantation: New treatment for mucopolysaccharido..:

Toyama, Sumika ; Migita, Ohsuke ; Fujino, Masayuki...
Pediatrics International.  61 (2019)  2 - p. 180-189 , 2019
Link: https://doi.org/10.1111/..
 
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14

A molecular analysis of the GAA gene and clinical spectrum ..:

Fukuhara, Yasuyuki ; Fuji, Naoko ; Yamazaki, Narutoshi...
Molecular Genetics and Metabolism Reports.  14 (2018)  - p. 3-9 , 2018
Link: https://doi.org/10.1016/..
 
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15

Astaxanthin prevents ischemia-reperfusion injury of the ste..:

Li, Shaowei ; Takahara, Terumi ; Fujino, Masayuki...
PLOS ONE.  12 (2017)  11 - p. e0187810 , 2017
Link: https://doi.org/10.1371/..
 
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