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/vufind/Search/Results?lookfor=%22Nozaki%2C+Fumihito%22&type=Person&sort=year
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PubPharm (44)
1
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
enthalten in:
Journal of neurology
| 2022
von
Hiramatsu, Y.
|
Okamoto, Y.
|
Yoshimura, A.
| +21
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2
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
enthalten in:
Journal of neurology
| 2022
von
Hiramatsu, Y.
|
Okamoto, Y.
|
Yoshimura, A.
| +21
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3
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
enthalten in:
Journal of neurology
| 2022
von
Hiramatsu, Y.
|
Okamoto, Y.
|
Yoshimura, A.
| +21
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4
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
enthalten in:
Journal of neurology
| 2022
von
Hiramatsu, Y.
|
Okamoto, Y.
|
Yoshimura, A.
| +21
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5
Advantage of a higher position of the tracheostoma with glottic closure for preventing complications related to tracheostomy tube : a retrospective cohort study
enthalten in:
BMC surgery
| 2022
von
Kanazawa, Y.
|
Kurata, Y.
|
Nagai, M.
| +10
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6
Advantage of a higher position of the tracheostoma with glottic closure for preventing complications related to tracheostomy tube: a retrospective cohort study
enthalten in:
BMC surgery
| 2022
von
Kanazawa, Y.
|
Kurata, Y.
|
Nagai, M.
| +10
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7
Prenatal clinical manifestations in individuals with COL4A1/2 variants
enthalten in:
Journal of medical genetics
| 2021
von
Itai, T.
|
Miyatake, S.
|
Taguri, M.
| +72
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8
Ketogenic diet for refractory epilepsy with MEHMO syndrome : Caution for acute necrotizing pancreatitis
enthalten in:
Brain & development
| 2021
von
Mori, M.
|
Kumada, T.
|
Inoue, K.
| +7
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9
A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency
enthalten in:
Clinical genetics
| 2020
von
Yatsuka, Y.
|
Kishita, Y.
|
Formosa, L.
| +8
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10
Cumulative jerk as an outcome measure in nonambulatory Duchenne muscular dystrophy
enthalten in:
Brain & development
| 2019
von
Fujii, T.
|
Takeshita, E.
|
Iwata, Y.
| +4
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No to hattatsu = Brain and development
5
Brain & development
4
European journal of pediatrics
4
Journal of neurology
4
Pediatric neurology
2
American journal of medical genetics. Part A
2
BMC surgery
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The journal of allergy and clinical immunology
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Journal Article
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5
Mitochondrial disease
5
Research Support, Non-U.S. Gov't
4
English Abstract
4
Nuclear genes
4
Peripheral neuropathy
4
Whole-exome sequencing
3
Grisel syndrome
3
Kawasaki disease
3
Non-traumatic atlantoaxial subluxation
3
Pediatric
2
614OI1Z5WI
2
Anticonvulsants
2
Computed tomography
2
Duchenne muscular dystrophy
2
Encephalopathy
2
Fanconi syndrome
2
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2
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Erscheinungszeitraum
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