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Between Export-Led Growth and Administrative Keynesianism: Italy's Two-Tiered Growth Regime.
- Published in:
- Max-Planck-Institut für Gesellschaftsforschung Discussion Papers, 2024, v. 24, n. 8, p. i
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- Article
Pneumocystis murina lesions in lungs of experimentally infected Cd40l –/– mice.
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- Veterinary Pathology, 2024, v. 61, n. 6, p. 988, doi. 10.1177/03009858241252409
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- Article
A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient.
- Published in:
- 2012
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- Publication type:
- journal article
A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient.
- Published in:
- Calcified Tissue International, 2012, v. 91, n. 4, p. 250, doi. 10.1007/s00223-012-9631-4
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- Article
Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor.
- Published in:
- 2009
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- Publication type:
- journal article
Noninvasive assessment of breast cancer risk using time-resolved diffuse optical spectroscopy.
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- Journal of Biomedical Optics, 2010, v. 15, n. 6, p. 060501, doi. 10.1117/1.3506043
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- Publication type:
- Article
Wiskott- Aldrich syndrome protein deficiency in natural killer and dendritic cells affects antitumor immunity.
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- European Journal of Immunology, 2014, v. 44, n. 4, p. 1039, doi. 10.1002/eji.201343935
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- Publication type:
- Article
Genetics of Osteopetrosis.
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- Current Osteoporosis Reports, 2018, v. 16, n. 1, p. 13, doi. 10.1007/s11914-018-0415-2
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- Article
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.
- Published in:
- Nature Medicine, 2003, v. 9, n. 4, p. 399, doi. 10.1038/nm842
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- Article
Insights into Cadmium-Induced Carcinogenesis through an In Vitro Study Using C3H10T1/2Cl8 Cells: The Multifaceted Role of Mitochondria.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10837, doi. 10.3390/ijms221910837
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- Article
Gut Microbiota–Host Interactions in Inborn Errors of Immunity.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 3, p. 1416, doi. 10.3390/ijms22031416
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- Publication type:
- Article
3D Bone Biomimetic Scaffolds for Basic and Translational Studies with Mesenchymal Stem Cells.
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- International Journal of Molecular Sciences, 2018, v. 19, n. 10, p. 3150, doi. 10.3390/ijms19103150
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- Article
Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.
- Published in:
- 2010
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- Publication type:
- journal article
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.
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- 2007
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- Publication type:
- journal article
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.
- Published in:
- 2007
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- Publication type:
- journal article
AIRE deficiency in thymus of 2 patients with Omenn syndrome.
- Published in:
- 2005
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- Publication type:
- journal article
Osteopetrosis mimicking juvenile myelomonocytic leukemia.
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- Pediatrics International, 2014, v. 56, n. 5, p. 779, doi. 10.1111/ped.12342
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- Publication type:
- Article
Gene Modification and Three‐Dimensional Scaffolds as Novel Tools to Allow the Use of Postnatal Thymic Epithelial Cells for Thymus Regeneration Approaches.
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- Stem Cells Translational Medicine, 2019, v. 8, n. 10, p. 1107, doi. 10.1002/sctm.18-0218
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- Publication type:
- Article
Mesenchymal Stromal Cell‐Seeded Biomimetic Scaffolds as a Factory of Soluble RANKL in Rankl‐Deficient Osteopetrosis.
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- Stem Cells Translational Medicine, 2019, v. 8, n. 1, p. 22, doi. 10.1002/sctm.18-0085
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- Publication type:
- Article
Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy.
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- Stem Cells Translational Medicine, 2017, v. 6, n. 2, p. 352, doi. 10.5966/sctm.2015-0414
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- Publication type:
- Article
A New Familial Sclerosing Bone Dysplasia.
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- Journal of Bone & Mineral Research, 2010, v. 25, n. 3, p. 676, doi. 10.1359/jbmr.090733
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- Publication type:
- Article
Clinical Vignette: Characterization of a Novel Alu-Alu Recombination-Mediated Genomic Deletion in the TCIRGJ Gene in Five Osteopetrotic Patients.
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- Journal of Bone & Mineral Research, 2009, v. 24, n. 1, p. 162, doi. 10.1359/jbmr.080818
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- Publication type:
- Article
Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement.
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- Journal of Bone & Mineral Research, 2006, v. 21, n. 7, p. 1098, doi. 10.1359/jbmr.060403
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- Publication type:
- Article
Polymorphisms of the CLCN7 Gene Are Associated With BMD in Women.
- Published in:
- Journal of Bone & Mineral Research, 2005, v. 20, n. 11, p. 1960, doi. 10.1359/JBMR.050717
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- Publication type:
- Article
In Vitro Differentiation of CD14 Cells From Osteopetrotic Subjects: Contrasting Phenotypes With TCIRG1, CLCN7, and Attachment Defects.
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- Journal of Bone & Mineral Research, 2004, v. 19, n. 8, p. 1329, doi. 10.1359/JBMR.040403
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- Publication type:
- Article
Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis.
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- Journal of Bone & Mineral Research, 2003, v. 18, n. 10, p. 1740, doi. 10.1359/jbmr.2003.18.10.1740
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- Publication type:
- Article
Impaired Osteoblastogenesis in a Murine Model of Dominant Osteogenesis Imperfecta: A New Target for Osteogenesis Imperfecta Pharmacological Therapy.
- Published in:
- Stem Cells, 2012, v. 30, n. 7, p. 1465, doi. 10.1002/stem.1107
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- Publication type:
- Article
Unbiased assessment of genome integrity and purging of adverse outcomes at the target locus upon editing of CD4<sup>+</sup> T‐cells for the treatment of Hyper IgM1.
- Published in:
- EMBO Journal, 2023, v. 42, n. 23, p. 1, doi. 10.15252/embj.2023114188
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- Article
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
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- Nature Genetics, 2007, v. 39, n. 8, p. 960, doi. 10.1038/ng2076
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- Publication type:
- Article
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
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- Nature Genetics, 2000, v. 25, n. 3, p. 343, doi. 10.1038/77131
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- Article
Prenatal diagnosis of RAG-deficient Omenn syndrome.
- Published in:
- 2000
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- Publication type:
- journal article
EFSA Pilot Project on NAMs for the hazard assessment of nanofibers. Lot 2: 'Exploring the use of gut‐on‐a‐chip models for risk assessments of nanofibers'.
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- EFSA Supporting Publications, 2023, v. 20, n. 11, p. 1, doi. 10.2903/sp.efsa.2023.EN-8230
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- Article
Do All BRCA 1 and 2 Carriers with a Known and Unknown Breast Cancer Choose Bilateral Mastectomies?
- Published in:
- 2018
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- Publication type:
- journal article
Development of Central Nervous System Autoimmunity Is Impaired in the Absence of Wiskott-Aldrich Syndrome Protein.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086942
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- Publication type:
- Article
The influence of plasma technology coupled to chemical grafting on the cell growth compliance of 3D hydroxyapatite scaffolds.
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- Journal of Materials Science: Materials in Medicine, 2012, v. 23, n. 11, p. 2727, doi. 10.1007/s10856-012-4727-y
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- Publication type:
- Article
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.
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- Human Genetics, 2000, v. 106, n. 1, p. 73, doi. 10.1007/s004390051012
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- Publication type:
- Article
The RANKL-RANK Axis: A Bone to Thymus Round Trip.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00629
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- Publication type:
- Article
Thymic Epithelium Abnormalities in DiGeorge and Down Syndrome Patients Contribute to Dysregulation in T Cell Development.
- Published in:
- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.00447
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- Publication type:
- Article
Murine Rankl<sup>−/−</sup> Mesenchymal Stromal Cells Display an Osteogenic Differentiation Defect Improved by a RANKL-Expressing Lentiviral Vector.
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- Stem Cells, 2017, v. 35, n. 5, p. 1365, doi. 10.1002/stem.2574
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- Publication type:
- Article
Correction of Murine Rag2 Severe Combined Immunodeficiency by Lentiviral Gene Therapy Using a Codon-optimized RAG2 Therapeutic Transgene.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 10, p. 1968, doi. 10.1038/mt.2012.110
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- Publication type:
- Article
RAG gene defects at the verge of immunodeficiency and immune dysregulation.
- Published in:
- Immunological Reviews, 2019, v. 287, n. 1, p. 73, doi. 10.1111/imr.12713
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- Publication type:
- Article
The genetic and biochemical basis of Omenn syndrome.
- Published in:
- Immunological Reviews, 2000, v. 178, n. 1, p. 64, doi. 10.1034/j.1600-065x.2000.17818.x
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- Publication type:
- Article
Partial correction of immunodeficiency by lentiviral vector gene therapy in mouse models carrying Rag1 hypomorphic mutations.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1268620
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- Publication type:
- Article
Dental Hard Tissue Ablation Using Picoseconds Pulsed Laser Emitting at 532 and 266 nm Wavelength.
- Published in:
- Journal of Laser Micro / Nanoengineering, 2013, v. 8, n. 3, p. 192, doi. 10.2961/jlmn.2013.03.0002
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- Publication type:
- Article
Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage.
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- Cancer Science, 2005, v. 96, n. 2, p. 134, doi. 10.1111/j.1349-7006.2005.00019.x
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- Publication type:
- Article
Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients.
- Published in:
- 2015
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- Publication type:
- journal article
Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome.
- Published in:
- Cancer Gene Therapy, 2000, v. 7, n. 10, p. 1299, doi. 10.1038/sj.cgt.0234
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- Publication type:
- Article
Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome.
- Published in:
- Cancer Gene Therapy, 2000, v. 7, n. 10, p. 1299, doi. 10.1038/sj.cgt.0234
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- Publication type:
- Article
Premature Senescence and Increased Oxidative Stress in the Thymus of Down Syndrome Patients.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.669893
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- Publication type:
- Article
Innovative Cell-Based Therapies and Conditioning to Cure RAG Deficiency.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.607926
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- Publication type:
- Article