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/vufind/Search/Results?lookfor=%22Tsumura%2C+Miyuki%22&type=Person&filter%5B%5D=topic_facet%3A%22Case+Reports%22
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PubPharm (20)
1
Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function
enthalten in:
Journal of clinical immunology
| 2023
von
Staines-Boone, A.
|
Vignesh, P.
|
Tsumura, M.
| +11
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2
A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy
enthalten in:
Rinsho shinkeigaku = Clinical neurology
| 2023
von
Shiraishi, W.
|
Tateishi, T.
|
Hayashida, S.
| +3
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3
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases
enthalten in:
Journal of clinical immunology
| 2023
von
Ono, R.
|
Tsumura, M.
|
Shima, S.
| +16
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4
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings
enthalten in:
Journal of clinical immunology
| 2021
von
Imanaka, Y.
|
Taniguchi, M.
|
Doi, T.
| +16
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5
Bone marrow transplantation from a human leukocyte antigen-mismatched unrelated donor in a case with C1q deficiency associated with refractory systemic lupus erythematosus
enthalten in:
International journal of hematology
| 2021
von
Matsumura, R.
|
Mochizuki, S.
|
Maruyama, N.
| +8
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6
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation
enthalten in:
Journal of clinical immunology
| 2021
von
Nishimura, S.
|
Kobayashi, Y.
|
Ohnishi, H.
| +15
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7
Ruxolitinib Response in an Infant With Very-early-onset Inflammatory Bowel Disease and Gain-of-function STAT1 Mutation
enthalten in:
Journal of pediatric gastroenterology and nutrition
| 2020
von
Acker, K.
|
Borlack, R.
|
Iuga, A.
| +9
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8
Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations
enthalten in:
International immunology
| 2020
von
Sakata, S.
|
Tsumura, M.
|
Matsubayashi, T.
| +16
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9
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2 : Evaluation of additional indices for adequate sensitivity and lower false-positivity
enthalten in:
Molecular genetics and metabolism
| 2017
von
Tajima, G.
|
Hara, K.
|
Tsumura, M.
| +28
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10
Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation
enthalten in:
The Journal of allergy and clinical immunology
| 2016
von
Kataoka, S.
|
Muramatsu, H.
|
Okuno, Y.
| +13
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Thema: Case Reports
Medienart
20
Aufsätze
20
E-Artikel
20
E-Ressourcen
Zeitschriftentitel
7
Journal of clinical immunology
1
Brain & development
1
British journal of haematology
1
Haematologica
1
Human mutation
1
International immunology
1
International journal of hematology
1
Journal of medical genetics
1
Journal of pediatric gastroenterology and nutri...
1
Molecular genetics and metabolism
1
Pediatrics international : official journal of ...
1
Rheumatology (Oxford, England)
1
Rinsho shinkeigaku = Clinical neurology
1
The Journal of allergy and clinical immunology
Alle anzeigen ...
weniger ...
Thema
Case Reports
17
Journal Article
16
Research Support, Non-U.S. Gov't
7
STAT1 Transcription Factor
6
STAT1 protein, human
3
Letter
3
Research Support, N.I.H., Extramural
2
42HK56048U
2
82115-62-6
2
Acyl-CoA Dehydrogenase, Long-Chain
2
BCG Vaccine
2
Carnitine O-Palmitoyltransferase
2
EC 1.3.8.8
2
EC 2.3.1.21
2
Interferon-alpha
2
Interferon-gamma
2
Tyrosine
1
146-68-9
1
1935-18-8
1
80295-33-6
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Erscheinungszeitraum
8
2020-
10
2010-2019
2
2000-2009
Erscheinungsjahr(e)
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Sprache
19
Englisch
1
Japanisch
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