Found: 146
Select item for more details and to access through your institution.
A German family with glucocorticoid-remediable aldosteronism.
- Published in:
- Nephrology Dialysis Transplantation, 2007, v. 22, n. 4, p. 1123, doi. 10.1093/ndt/gfl706
- By:
- Publication type:
- Article
New genomic region for Wegener’s granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes.
- Published in:
- Human Genetics, 2004, v. 114, n. 5, p. 468, doi. 10.1007/s00439-004-1092-z
- By:
- Publication type:
- Article
A genome screen for linkage disequilibrium in HLA-DRB1*15-positive Germans with multiple sclerosis based on 4666 microsatellite markers.
- Published in:
- Human Genetics, 2002, v. 111, n. 3, p. 270, doi. 10.1007/s00439-002-0801-8
- By:
- Publication type:
- Article
Correcting for multiple testing in genetic association studies: the legend lives on.
- Published in:
- Human Genetics, 2001, v. 109, n. 5, p. 566, doi. 10.1007/s00439-001-0616-z
- By:
- Publication type:
- Article
Genetic background of apparently idiopathic sporadic cerebellar ataxia.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 132, doi. 10.1007/s004390000346
- By:
- Publication type:
- Article
Large males dominate: ecology, social organization, and mating system of wild cavies, the ancestors of the guinea pig.
- Published in:
- Behavioral Ecology & Sociobiology, 2008, v. 62, n. 9, p. 1509, doi. 10.1007/s00265-008-0580-x
- By:
- Publication type:
- Article
Males as infant protectors in Hanuman langurs ( Presbytis entellus) living in multimale groups – defence pattern, paternity and sexual behaviour.
- Published in:
- Behavioral Ecology & Sociobiology, 1999, v. 46, n. 5, p. 350, doi. 10.1007/s002650050629
- By:
- Publication type:
- Article
Handedness and the X chromosome: The role of androgen receptor CAG-repeat length.
- Published in:
- Scientific Reports, 2015, p. 8325, doi. 10.1038/srep08325
- By:
- Publication type:
- Article
Contrasting association of a non-synonymous leptin receptor gene polymorphism with Wegener’s granulomatosis and Churg–Strauss syndrome.
- Published in:
- Rheumatology, 2010, v. 49, n. 5, p. 907, doi. 10.1093/rheumatology/kep420
- By:
- Publication type:
- Article
High telomerase activity and high HTRT mRNA expression differentiate pure myxoid and myxoid/round-cell liposarcomas.
- Published in:
- International Journal of Cancer, 2000, v. 89, n. 1, p. 63, doi. 10.1002/(SICI)1097-0215(20000120)89:1<63::AID-IJC10>3.0.CO;2-V
- By:
- Publication type:
- Article
NMDA receptor gene variations as modifiers in Huntington disease: a replication study.
- Published in:
- PLoS Currents, 2011, p. 454, doi. 10.1371/currents.RRN1247
- By:
- Publication type:
- Article
Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Endocannabinergic modulation of central serotonergic activity in healthy human volunteers.
- Published in:
- Annals of General Psychiatry, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12991-023-00437-2
- By:
- Publication type:
- Article
Extensive Gene Flow in Human Populations as Revealed by Protein and Microsatellite DNA Markers.
- Published in:
- Human Heredity, 1997, v. 47, n. 3, p. 165, doi. 10.1159/000154405
- By:
- Publication type:
- Article
Ccdc66 null mutation causes retinal degeneration and dysfunction.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 18, p. 3620, doi. 10.1093/hmg/ddr282
- By:
- Publication type:
- Article
Clinical utility gene card for: Huntington's disease.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 1, doi. 10.1038/ejhg.2013.206
- By:
- Publication type:
- Article
Structural Asymmetry in the Frontal and Temporal Lobes Is Associated with PCSK6 VNTR Polymorphism.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 11, p. 7765, doi. 10.1007/s12035-019-01646-1
- By:
- Publication type:
- Article
Myelin Water Fraction Imaging Reveals Hemispheric Asymmetries in Human White Matter That Are Associated with Genetic Variation in PLP1.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 6, p. 3999, doi. 10.1007/s12035-018-1351-y
- By:
- Publication type:
- Article
PLP1 Gene Variation Modulates Leftward and Rightward Functional Hemispheric Asymmetries.
- Published in:
- Molecular Neurobiology, 2018, v. 55, n. 10, p. 7691, doi. 10.1007/s12035-018-0941-z
- By:
- Publication type:
- Article
Cognitive Control Processes and Functional Cerebral Asymmetries: Association with Variation in the Handedness-Associated Gene <italic>LRRTM1</italic>.
- Published in:
- Molecular Neurobiology, 2018, v. 55, n. 3, p. 2268, doi. 10.1007/s12035-017-0485-7
- By:
- Publication type:
- Article
Detection of somatic changes in human renal cell carcinomas with oligonucleotide probes specific for simple repeat motifs.
- Published in:
- Genes, Chromosomes & Cancer, 1993, v. 6, n. 2, p. 113, doi. 10.1002/gcc.2870060208
- By:
- Publication type:
- Article
Coamplification of simple repetitive DNA fingerprint fragments and the EGFR gene in human gliomas.
- Published in:
- Genes, Chromosomes & Cancer, 1991, v. 3, n. 2, p. 79, doi. 10.1002/gcc.2870030202
- By:
- Publication type:
- Article
A polymorphism of the NFKBIA gene is associated with Crohn's disease patients lacking a predisposing allele of the CARD15 gene.
- Published in:
- International Journal of Colorectal Disease, 2004, v. 19, n. 2, p. 153, doi. 10.1007/s00384-003-0531-y
- By:
- Publication type:
- Article
Pathogenetic and Clinical Aspects of Anti-Neutrophil Cytoplasmic Autoantibody-Associated Vasculitides.
- Published in:
- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00680
- By:
- Publication type:
- Article
Novel Nonsense Mutation in <bold><italic>SLC39A13</italic></bold> Initially Presenting as Myopathy: Case Report and Review of the Literature.
- Published in:
- Molecular Syndromology, 2018, v. 9, n. 2, p. 100, doi. 10.1159/000485881
- By:
- Publication type:
- Article
A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 1, p. 26, doi. 10.1159/000444615
- By:
- Publication type:
- Article
Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.
- Published in:
- Molecular Syndromology, 2015, v. 6, n. 4, p. 173, doi. 10.1159/000439414
- By:
- Publication type:
- Article
MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.
- Published in:
- Molecular Syndromology, 2015, v. 6, n. 2, p. 58, doi. 10.1159/000371399
- By:
- Publication type:
- Article
PanelDesign: Integrating Epidemiological Information into the Design of Diagnostic NGS Gene Panels.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 684, doi. 10.3390/genes13040684
- By:
- Publication type:
- Article
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1, doi. 10.1038/ejhg.2011.68
- By:
- Publication type:
- Article
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 520, doi. 10.1038/ejhg.2010.239
- By:
- Publication type:
- Article
Multilocus statistics to uncover epistasis and heterogeneity in complex diseases: revisiting a set of multiple sclerosis data.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 8, p. 573, doi. 10.1038/sj.ejhg.5201008
- By:
- Publication type:
- Article
PGC-1alpha downstream transcription factors NRF-1 and TFAM are genetic modifiers of Huntington disease.
- Published in:
- Molecular Neurodegeneration, 2011, v. 6, n. 1, p. 32, doi. 10.1186/1750-1326-6-32
- By:
- Publication type:
- Article
Krogh's principle for a new era.
- Published in:
- 2003
- By:
- Publication type:
- Editorial
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
- Published in:
- Nature Genetics, 2003, v. 34, n. 4, p. 379, doi. 10.1038/ng1221
- By:
- Publication type:
- Article
Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case–control cohort
- Published in:
- BMC Dermatology, 2014, v. 14, n. 1, p. 17, doi. 10.1186/1471-5945-14-17
- By:
- Publication type:
- Article
Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case-control cohort.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Association of toll-interacting protein gene polymorphisms with atopic dermatitis.
- Published in:
- BMC Dermatology, 2007, v. 7, p. 3, doi. 10.1186/1471-5945-7-3
- By:
- Publication type:
- Article
Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Evaluation of >3,000 cases.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Molecular Genetics of Sex Identification, Breed Ancestry and Polydactyly in the Norwegian Lundehund Breed.
- Published in:
- Journal of Heredity, 2015, v. 106, n. 4, p. 403, doi. 10.1093/jhered/esv031
- By:
- Publication type:
- Article
The SEM6A6 Locus Is Not Associated With Granulomatosis With Polyangiitis or Other Forms of Antineutrophil Cytoplasmic Antibody-Associated Vasculitides in Europeans: Comment on the Article by Xie et al.
- Published in:
- Arthritis & Rheumatology, 2014, v. 66, n. 5, p. 1400, doi. 10.1002/art.38367
- By:
- Publication type:
- Article
Epigenetic regulation of lateralized fetal spinal gene expression underlies hemispheric asymmetries.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.22784
- By:
- Publication type:
- Article
Species-level differentiation of two cryptic species pairs of wild cavies, genera Cavia and Galea, with a discussion of the relationship between social systems and phylogeny in the Caviinae.
- Published in:
- Canadian Journal of Zoology, 2004, v. 82, n. 3, p. 516, doi. 10.1139/Z04-010
- By:
- Publication type:
- Article
DRD1 and DRD2 Genotypes Modulate Processing Modes of Goal Activation Processes during Action Cascading.
- Published in:
- Journal of Neuroscience, 2014, v. 34, n. 15, p. 5335, doi. 10.1523/JNEUROSCI.5140-13.2014
- By:
- Publication type:
- Article
Novel Genetic Risk Markers for Ulcerative Colitis in the IL2/IL21 Region Are in Epistasis With IL23R and Suggest a Common Genetic Background for Ulcerative Colitis and Celiac Disease.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2009, v. 104, n. 7, p. 1737, doi. 10.1038/ajg.2009.163
- By:
- Publication type:
- Article
rs224136 on Chromosome 10q21.1 and Variants in PHOX2B, NCF4, and FAM92B Are Not Major Genetic Risk Factors for Susceptibility to Crohn's Disease in the German Population.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2009, v. 104, n. 3, p. 665, doi. 10.1038/ajg.2008.65
- By:
- Publication type:
- Article
The ATG16L1 Gene Variants rs2241879 and rs2241880 (T300A) Are Strongly Associated With Susceptibility to Crohn's Disease in the German Population.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2008, v. 103, n. 3, p. 682, doi. 10.1111/j.1572-0241.2007.01694.x
- By:
- Publication type:
- Article
Polymorphisms in the interleukin-8 gene in patients with chronic obstructive pulmonary disease.
- Published in:
- Electrophoresis, 2005, v. 26, n. 15, p. 2888, doi. 10.1002/elps.200500095
- By:
- Publication type:
- Article
Long- and short-haired Weimaraner dogs represent two populations of one breed.
- Published in:
- Electrophoresis, 2005, v. 26, n. 9, p. 1668, doi. 10.1002/elps.200410204
- By:
- Publication type:
- Article
A promotor polymorphism in the Interleukin 11 gene is associated with chronic obstructive pulmonary disease.
- Published in:
- Electrophoresis, 2004, v. 25, n. 6, p. 804, doi. 10.1002/elps.200305773
- By:
- Publication type:
- Article