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PubPharm (453)
1
A deep intronic BTK variant underlies X-linked agammaglobulinemia
enthalten in:
Journal of clinical immunology
| 2024
von
Tateishi, S.
|
Shimizu, S.
|
Moriya, K.
| +2
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2
Bacterial Meningitis Caused by Haemophilus influenzae Type F Diagnosed Using Next-Generation Sequencing
enthalten in:
Indian journal of pediatrics
| 2024
von
Fujita, Y.
|
Moriya, K.
|
Kitazawa, T.
| +4
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3
A deep intronic BTK variant underlies X-linked agammaglobulinemia
enthalten in:
Journal of clinical immunology
| 2024
von
Tateishi, S.
|
Shimizu, S.
|
Moriya, K.
| +2
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4
The immunopathological landscape of human pre-TCRα deficiency : From rare to common variants
enthalten in:
Science (New York, N.Y.)
| 2024
von
Materna, M.
|
Delmonte, O.
|
Bosticardo, M.
| +96
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5
Noonan Syndrome-related Myeloproliferative Disorder Occurring in the Neonatal Period : Case Report and Literature Review
enthalten in:
Journal of pediatric hematology/oncology
| 2024
von
Hoshino, Y.
|
Moriya, K.
|
Mitsui-Sekinaka, K.
| +10
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6
Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan : Our Results after 3 Years
enthalten in:
Genes
| 2024
von
Kimizu, T.
|
Nozaki, M.
|
Okada, Y.
| +14
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7
Immunological assessment of a patient with infant acute lymphoblastic leukemia
enthalten in:
Pediatrics international : official journal of the Japan Pediatric Society
| 2024
von
Takagi, M.
|
Tomoyasu, C.
|
Yamanaka, J.
| +4
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8
A Non-targeted Proteomics Newborn Screening Platform for Genetic Disorders
enthalten in:
bioRxiv.org
| 2024
von
Shibata, H.
|
Nakajima, D.
|
Konno, R.
| +26
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9
Clinical Characteristics of Cryopyrin-Associated Periodic Syndrome and Long-Term Real-World Efficacy and Tolerability of Canakinumab in Japan : Results of a Nationwide Survey
enthalten in:
Arthritis & rheumatology (Hoboken, N.J.)
| 2024
von
Miyamoto, T.
|
Izawa, K.
|
Masui, S.
| +99
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10
Pharmacokinetics, safety, and efficacy of 20% subcutaneous immunoglobulin (Ig20Gly) administered weekly or every 2 weeks in Japanese patients with primary immunodeficiency diseases : a phase 3, open-label study
enthalten in:
Immunotherapy advances
| 2024
von
Kanegane, H.
|
Endo, A.
|
Okada, S.
| +14
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Journal of clinical immunology
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International journal of hematology
22
The journal of allergy and clinical immunology
21
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14
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Clinical immunology (Orlando, Fla.)
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Blood
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British journal of haematology
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hematopoietic stem cell transplantation
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severe combined immunodeficiency
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Multicenter Study
16
primary immunodeficiency
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14
Cytidine Deaminase
14
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EC 3.5.4.5
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Inborn errors of immunity
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X-linked lymphoproliferative syndrome
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hematopoietic cell transplantation
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