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Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
- Published in:
- Human Genetics, 2001, v. 109, n. 5, p. 526, doi. 10.1007/s004390100603
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- Publication type:
- Article
Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains.
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- Human Genetics, 2001, v. 108, n. 2, p. 140, doi. 10.1007/s004390000453
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- Publication type:
- Article
Characterization of canine filaggrin: gene structure and protein expression in dog skin.
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- Veterinary Dermatology, 2013, v. 24, n. 1, p. 25, doi. 10.1111/j.1365-3164.2012.01105.x
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- Publication type:
- Article
A novel mouse model for Down syndrome that harbor a single copy of human artificial chromosome (HAC) carrying a limited number of genes from human chromosome 21.
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- Transgenic Research, 2014, v. 23, n. 2, p. 317, doi. 10.1007/s11248-013-9772-x
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- Publication type:
- Article
Triclonal gammopathy (IgAk, IgGk, and IgMk) in a patient with plasmacytoid lymphoma derived from a monoclonal origin.
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- American Journal of Hematology, 1993, v. 42, n. 2, p. 212, doi. 10.1002/ajh.2830420213
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- Publication type:
- Article
Recovery of FRI-5 carbapenemase at a Japanese hospital where FRI-4 carbapenemase was discovered.
- Published in:
- 2019
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- Publication type:
- letter
RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse.
- Published in:
- European Journal of Immunology, 2000, v. 30, n. 7, p. 1884, doi. 10.1002/1521-4141(200007)30:7<1884::AID-IMMU1884>3.0.CO;2-P
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- Publication type:
- Article
SASPase regulates stratum corneum hydration through profilaggrin-to-filaggrin processing.
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- EMBO Molecular Medicine, 2011, v. 3, n. 6, p. 320, doi. 10.1002/emmm.201100140
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- Publication type:
- Article
Pathological characterization of pachydermia in pachydermoperiostosis.
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- Journal of Dermatology, 2015, v. 42, n. 7, p. 710, doi. 10.1111/1346-8138.12869
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- Publication type:
- Article
EXPRESSION OF MNB/DYRK, A DUAL-SPECIFICITY PROTEIN KINASE, IN BRAIN DURING RAT DEVELOPMENT.
- Published in:
- 1999
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- Publication type:
- Abstract
Linkage Analysis of Affective Disorder Using DNA Markers on Chromosomes 11 and X.
- Published in:
- Psychiatry & Clinical Neurosciences, 1991, v. 45, n. 1, p. 53, doi. 10.1111/j.1440-1819.1991.tb00505.x
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- Publication type:
- Article
Comparative genomics of the keratin-associated protein (KAP) gene clusters in human, chimpanzee, and baboon.
- Published in:
- Mammalian Genome, 2004, v. 15, n. 3, p. 179, doi. 10.1007/s00335-003-2313-9
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- Publication type:
- Article
A homozygous frameshift mutation in the mouse Flg gene facilitates enhanced percutaneous allergen priming.
- Published in:
- Nature Genetics, 2009, v. 41, n. 5, p. 602, doi. 10.1038/ng.358
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- Publication type:
- Article
Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness.
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- Nature Genetics, 2001, v. 27, n. 1, p. 59, doi. 10.1038/83768
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- Publication type:
- Article
Mega Base Map of the Epidermal Growth Factor (EGF) Receptor Gene Flanking Regions and Structure of the Amplification Units in EGF Receptor-hyperproducing Squamous Carcinoma Cells.
- Published in:
- Cancer Science, 1988, v. 79, n. 11, p. 1174, doi. 10.1111/j.1349-7006.1988.tb01542.x
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- Publication type:
- Article
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 23, p. 2829, doi. 10.1093/hmg/11.23.2829
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- Publication type:
- Article
APECED mutations in the autoimmune regulator (AIRE) gene.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 205, doi. 10.1002/humu.1176
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- Publication type:
- Article
Novel mutations in the myocilin gene in Japanese glaucoma patients.
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- Human Mutation, 2000, v. 16, n. 3, p. 270, doi. 10.1002/1098-1004(200009)16:3<270::AID-HUMU13>3.0.CO;2-M
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- Publication type:
- Article
Identification of four novel mutations of the XLRS1 gene in Japanese patients with X-linked juvenile retinoschisis.
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- Human Mutation, 1999, v. 13, n. 4, p. 338, doi. 10.1002/(SICI)1098-1004(1999)13:4<338::AID-HUMU16>3.0.CO;2-0
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- Publication type:
- Article
Mutation analyses of North American APS-1 patients.
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- Human Mutation, 1999, v. 13, n. 1, p. 69, doi. 10.1002/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6
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- Publication type:
- Article
RNA Sequencing Analysis Reveals Interactions between Breast Cancer or Melanoma Cells and the Tissue Microenvironment during Brain Metastasis.
- Published in:
- BioMed Research International, 2017, v. 2017, p. 1, doi. 10.1155/2017/8032910
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- Publication type:
- Article
Overexpression of the human MNB/DYRK1A gene induces formation of multinucleate cells through overduplication of the centrosome.
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- BMC Cell Biology, 2003, v. 4, p. 1
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- Publication type:
- Article
LINE1 family member is negative regulator of HLA-G expression.
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- Nucleic Acids Research, 2012, v. 40, n. 21, p. 10742, doi. 10.1093/nar/gks874
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- Publication type:
- Article
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-172
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- Publication type:
- Article
Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
- Published in:
- 2013
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- Publication type:
- journal article
HER2 Heterogeneity Is Associated with Poor Survival in HER2-Positive Breast Cancer.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 8, p. 2158, doi. 10.3390/ijms19082158
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- Publication type:
- Article
Screening of H-ras Gene Point Mutations in 50 Cases of Bladder Carcinoma.
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- International Journal of Urology, 1997, v. 4, n. 2, p. 178, doi. 10.1111/j.1442-2042.1997.tb00167.x
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- Publication type:
- Article
Dramatic improvement in genome assembly achieved using doubled-haploid genomes.
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- Scientific Reports, 2014, p. 1, doi. 10.1038/srep06780
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- Publication type:
- Article
Localization of 16 Exons to a 450-kb Region Involved in the Autoimmune Polyglandular Disease Type I (APECED) on Human Chromosome 21q22.3*.
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- DNA Research, 1997, v. 4, n. 1, p. 45, doi. 10.1093/dnares/4.1.45
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- Publication type:
- Article
Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin.
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- Journal of Investigative Dermatology, 2012, v. 132, n. 5, p. 1507, doi. 10.1038/jid.2011.479
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- Publication type:
- Article
Aire-Dependent Thymic Expression of Desmoglein 3, the Autoantigen in Pemphigus Vulgaris, and Its Role in T-Cell Tolerance.
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- Journal of Investigative Dermatology, 2011, v. 131, n. 2, p. 410, doi. 10.1038/jid.2010.330
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- Publication type:
- Article
The Extracellular Aminoterminal Domain of Bovine Desmoglein 1 (Dsg1) Is Recognized Only by Certain Pemphigus Foliaceus Sera, Whereas Its Intracellular Domain Is Recognized by Both Pemphigus Vulgaris and Pemphigus Foliaceus Sera.
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- Journal of Investigative Dermatology, 1994, v. 103, n. 2, p. 173, doi. 10.1111/1523-1747.ep12392664
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- Publication type:
- Article
Detection of the 170-kDa Bullous Pemphigoid Antigen by Immunoprecipitation.
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- Journal of Investigative Dermatology, 1993, v. 100, n. 2, p. 176, doi. 10.1111/1523-1747.ep12462799
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- Publication type:
- Article