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Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome
Rigoni, Rosita et al. (2020)
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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Märtner, E. M. Charlotte et al. (2021)
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Mucopolysaccharidosis Type IIID: 12 New Patients and 15 Novel Mutations
Valstar, Marlies J. et al. (2010)
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More than just SCID-The phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2
Niehues, Tim; Perez-Becker, Ruy; Schuetz, Catharina (2010)
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Differentiating SGBS adipocytes respond to PPAR gamma stimulation, irisin and BMP7 by functional browning and beige characteristics
Klusoczki, Agnes et al. (2019)
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Increased proportions of gamma delta T lymphocytes in atypical SCID associate with disease manifestations
Tometten, Inga et al. (2019)
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Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
Pagel, Julia et al. (2012)
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Late thymic deficiency after HLA-haploidentical hematopoietic stem cell transplantation for severe combined immunodeficiency
Ege, Markus J. et al. (2019)
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CXCR1 and CXCR2 haplotypes synergistically modulate cystic fibrosis lung disease
Kormann, Michael S. D. et al. (2012)
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IAP antagonists: promising candidates for cancer therapy
Mannhold, Raimund; Fulda, Simone; Carosati, Emanuele (2010)
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