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A pre-screening FISH-based method to detect CRISPR/Cas9 off-targets in mouse embryonic stem cells.
- Published in:
- Scientific Reports, 2015, p. 12327, doi. 10.1038/srep12327
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- Publication type:
- Article
Chromosome Transplantation: Opportunities and Limitations.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 8, p. 666, doi. 10.3390/cells13080666
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- Publication type:
- Article
Absence of Dipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss.
- Published in:
- Journal of Bone & Mineral Research, 2019, v. 34, n. 11, p. 2133, doi. 10.1002/jbmr.3829
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- Publication type:
- Article
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.
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- Journal of Bone & Mineral Research, 2017, v. 32, n. 1, p. 99, doi. 10.1002/jbmr.2929
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- Publication type:
- Article
Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.
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- Journal of Bone & Mineral Research, 2015, v. 30, n. 10, p. 1814, doi. 10.1002/jbmr.2517
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- Publication type:
- Article
As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in the TCIRG1 Gene.
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- Journal of Bone & Mineral Research, 2014, v. 29, n. 7, p. 1646, doi. 10.1002/jbmr.2203
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- Publication type:
- Article
Osteopetrosis rescue upon RANKL administration to Rankl<sup>− /−</sup> mice: A new therapy for human RANKL-dependent ARO.
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- Journal of Bone & Mineral Research, 2012, v. 27, n. 12, p. 2501, doi. 10.1002/jbmr.1712
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- Publication type:
- Article
RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations.
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- Journal of Bone & Mineral Research, 2012, v. 27, n. 2, p. 342, doi. 10.1002/jbmr.559
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- Publication type:
- Article
Cell-based assay for the detection of chemically induced cellular stress by immortalized untransformed transgenic hepatocytes.
- Published in:
- BMC Biotechnology, 2004, v. 4, p. 5, doi. 10.1186/1472-6750-4-5
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- Publication type:
- Article
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 3, p. 418, doi. 10.1093/hmg/ddn369
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- Publication type:
- Article
SMC1 involvement in fragile site expression.
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- Human Molecular Genetics, 2005, v. 14, n. 4, p. 525, doi. 10.1093/hmg/ddi049
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- Publication type:
- Article
Reduced mammary tumor progression in a transgenic mouse model fed an isoflavone-poor soy protein concentrate.
- Published in:
- Molecular Nutrition & Food Research, 2008, v. 52, n. 10, p. 1121, doi. 10.1002/mnfr.200700296
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- Publication type:
- 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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- Publication type:
- Article
Adenosine deaminase and terminal deoxynucleotidyl transferase in human lymphomas: An aid to the diagnosis and subclassification of lymphoblastic lymphomas.
- Published in:
- American Journal of Hematology, 1985, v. 19, n. 3, p. 219, doi. 10.1002/ajh.2830190303
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- Publication type:
- Article
Equivoci e illusioni su identità e modernizzazione.
- Published in:
- Sociologia e Ricerca Sociale, 2012, v. 33, n. 98, p. 28, doi. 10.3280/sr2012-098002
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- Publication type:
- Article
Multienzymatic analyses of human malignant lymphomas. Correlation of enzymatic data with pathologic and ultrastructural findings in Burkitt's and lymphoblastic lymphomas.
- Published in:
- 1984
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- Publication type:
- journal article
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 960, doi. 10.1038/ng2076
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- Publication type:
- Article
X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.
- Published in:
- Nature Genetics, 2006, v. 38, n. 5, p. 528, doi. 10.1038/ng1779
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- Publication type:
- Article
The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09929-w
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- Publication type:
- Article
Growth of human melanoma xenografts is suppressed by systemic angiostatin gene therapy.
- Published in:
- Cancer Gene Therapy, 2001, v. 8, n. 7, p. 491, doi. 10.1038/sj.cgt.7700331
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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
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
Prenatal diagnosis of RAG-deficient Omenn syndrome.
- Published in:
- 2000
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- Publication type:
- journal article
Single-Cell Analysis of Ploidy and Centrosomes Underscores the Peculiarity of Normal Hepatocytes.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026080
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- Publication type:
- Article
Mutations in OSTM1 (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement.
- Published in:
- 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
Chloride Channel ClCN7 Mutations Are Responsible for Severe Recessive, Dominant, and Intermediate Osteopetrosis.
- Published in:
- 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
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.
- Published in:
- Nature Genetics, 2000, v. 25, n. 3, p. 343, doi. 10.1038/77131
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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
Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination.
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- 2010
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- Publication type:
- journal article
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.
- Published in:
- 2007
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- Publication type:
- journal article
DNA sequencing in HydroLink matrices: Extension of reading ability to > 600 nucleotides.
- Published in:
- Electrophoresis, 1990, v. 11, n. 8, p. 595, doi. 10.1002/elps.1150110802
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- Publication type:
- Article
Autofluorescence properties of murine embryonic stem cells during spontaneous differentiation phases.
- Published in:
- Lasers in Surgery & Medicine, 2013, v. 45, n. 9, p. 597, doi. 10.1002/lsm.22182
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- Publication type:
- Article
RAG-dependent primary immunodeficiencies.
- Published in:
- Human Mutation, 2006, v. 27, n. 12, p. 1174, doi. 10.1002/humu.20408
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- Publication type:
- Article
TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.
- Published in:
- Human Mutation, 2004, v. 24, n. 3, p. 225, doi. 10.1002/humu.20076
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- Publication type:
- Article
A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis.
- Published in:
- Human Mutation, 1994, v. 4, n. 1, p. 61, doi. 10.1002/humu.1380040110
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- Publication type:
- Article
Damaging-agent sensitivity of Artemis-deficient cell lines.
- Published in:
- European Journal of Immunology, 2005, v. 35, n. 4, p. 1250, doi. 10.1002/eji.200425555
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- Publication type:
- Article
Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.
- Published in:
- Clinical Genetics, 1996, v. 49, n. 1, p. 10, doi. 10.1111/j.1399-0004.1996.tb04317.x
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- Publication type:
- Article
Ferritins in malignant and non-malignant lymphoid cells.
- Published in:
- British Journal of Haematology, 1986, v. 62, n. 1, p. 105, doi. 10.1111/j.1365-2141.1986.tb02905.x
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- Publication type:
- Article
Dendritic Cells Cause Bone Lesions in a New Mouse Model of Histiocytosis.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0133917
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- Publication type:
- Article