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Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
- Published in:
- 2011
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- Publication type:
- journal article
Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1.
- Published in:
- 2007
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- Publication type:
- journal article
A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.
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- Movement Disorders, 2012, v. 27, n. 6, p. 789, doi. 10.1002/mds.24980
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- Publication type:
- Article
Genetic association study of the P-type ATPase ATP13A2 in late-onset Parkinson's disease.
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- Movement Disorders, 2009, v. 24, n. 3, p. 429, doi. 10.1002/mds.22399
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- Publication type:
- Article
HaploPainter: a tool for drawing pedigrees with complex haplotypes.
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- Bioinformatics, 2005, v. 21, n. 8, p. 1730, doi. 10.1093/bioinformatics/bth488
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- Publication type:
- Article
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
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- Human Genetics, 2010, v. 128, n. 1, p. 103, doi. 10.1007/s00439-010-0832-5
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- Publication type:
- Article
Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.
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- Human Genetics, 2010, v. 128, n. 1, p. 51, doi. 10.1007/s00439-010-0823-6
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- Publication type:
- Article
The cannabinoid receptor type 2 ( CNR2) gene is associated with hand bone strength phenotypes in an ethnically homogeneous family sample.
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- Human Genetics, 2009, v. 126, n. 5, p. 629, doi. 10.1007/s00439-009-0708-8
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- Publication type:
- Article
New genetic evidence for involvement of the dopamine system in migraine with aura.
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- Human Genetics, 2009, v. 125, n. 3, p. 265, doi. 10.1007/s00439-009-0623-z
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- Publication type:
- Article
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly.
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- Human Genetics, 2006, v. 118, n. 6, p. 708, doi. 10.1007/s00439-005-0104-y
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- Publication type:
- Article
Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates.
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- Human Genetics, 2003, v. 112, n. 1, p. 50, doi. 10.1007/s00439-002-0838-8
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- Publication type:
- Article
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.
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- Human Genetics, 2002, v. 110, n. 5, p. 389, doi. 10.1007/s00439-002-0719-1
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- Publication type:
- Article
Increased reproductive success of MHC class II heterozygous males among free-ranging rhesus macaques.
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- Human Genetics, 2001, v. 108, n. 3, p. 249, doi. 10.1007/s004390100485
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- Publication type:
- Article
Paternal kin bias in the agonistic interventions of adult female rhesus macaques ( Macaca mulatta).
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- Behavioral Ecology & Sociobiology, 2006, v. 61, n. 2, p. 205, doi. 10.1007/s00265-006-0251-8
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- Publication type:
- Article
Determinants of male reproductive success in wild long-tailed macaques ( Macaca fascicularis)—male monopolisation, female mate choice or post-copulatory mechanisms?
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- Behavioral Ecology & Sociobiology, 2006, v. 59, n. 6, p. 740, doi. 10.1007/s00265-005-0104-x
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- Publication type:
- Article
Maternal investment in rhesus macaques ( Macaca mulatta): reproductive costs and consequences of raising sons.
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- Behavioral Ecology & Sociobiology, 2000, v. 48, n. 1, p. 1, doi. 10.1007/s002650000204
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- Publication type:
- Article
Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly.
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- Cells (2073-4409), 2023, v. 12, n. 4, p. 642, doi. 10.3390/cells12040642
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- Publication type:
- Article
Distinct methylation profiles of glioma subtypes.
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- International Journal of Cancer, 2003, v. 106, n. 1, p. 52, doi. 10.1002/ijc.11175
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- Publication type:
- Article
Reliable assessment of telomere maintenance mechanisms in neuroblastoma.
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- Cell & Bioscience, 2022, v. 12, n. 1, p. 1, doi. 10.1186/s13578-022-00896-2
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- Publication type:
- Article
Exome sequencing in large, multiplex bipolar disorder families from Cuba.
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- PLoS ONE, 2018, v. 13, n. 10, p. 1, doi. 10.1371/journal.pone.0205895
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- Publication type:
- Article
Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.
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- FASEB Journal, 2019, v. 33, n. 10, p. 1, doi. 10.1096/fj.201900914RR
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- Publication type:
- Article
First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.
- Published in:
- 2019
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- Publication type:
- journal article
Unilateral L4-dorsal root ganglion stimulation evokes pain relief in chronic neuropathic postsurgical knee pain and changes of inflammatory markers: part II whole transcriptome profiling.
- Published in:
- 2019
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- Publication type:
- journal article
Transcriptional profiling reveals progeroid Ercc<sup>1-/▵</sup> mice as a model system for glomerular aging.
- Published in:
- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-559
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- Publication type:
- Article
Transcriptional profiling reveals progeroid Ercc1<sup>-/Δ</sup> mice as a model system for glomerular aging.
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- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-559
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- Publication type:
- Article
The genome of Romanomermis culicivorax: revealing fundamental changes in the core developmental genetic toolkit in Nematoda.
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- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-923
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- Publication type:
- Article
Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis.
- Published in:
- 2013
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- Publication type:
- Letter
Regulation of ClC-2 gating by intracellular ATP.
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- Pflügers Archiv: European Journal of Physiology, 2013, v. 465, n. 10, p. 1423, doi. 10.1007/s00424-013-1286-0
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- Publication type:
- Article
Genetic Studies on the Cayo Santiago Rhesus Macaques: A Review of 40 Years Of Research.
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- American Journal of Primatology, 2016, v. 78, n. 1, p. 44, doi. 10.1002/ajp.22424
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- Publication type:
- Article
SNP-Based Analysis of Genetic Substructure in the German Population.
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- Human Heredity, 2006, v. 62, n. 1, p. 20, doi. 10.1159/000095850
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- Publication type:
- Article
Concordant Association of Lipid Gene Variation with a Combined HDL/LDL-Cholesterol Phenotype in Two European Populations.
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- Human Heredity, 2006, v. 61, n. 3, p. 123, doi. 10.1159/000093773
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- Publication type:
- Article
Mapping Genes for Polygenic Disorders: Considerations for Study Design in the Complex Trait of Inflammatory Bowel Disease.
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- Human Heredity, 2000, v. 50, n. 2, p. 91, doi. 10.1159/000022896
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- Publication type:
- Article
AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance.
- Published in:
- 2017
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- Publication type:
- journal article
Olaparib Addition to Maintenance Bevacizumab Therapy in Ovarian Carcinoma With BRCA-Like Genomic Aberrations.
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- JAMA Network Open, 2024, v. 7, n. 4, p. e245552, doi. 10.1001/jamanetworkopen.2024.5552
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- Publication type:
- Article
Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-39391-z
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- Publication type:
- Article
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-35852-z
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- Publication type:
- Article
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
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- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2594, doi. 10.1093/hmg/ddv022
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- Publication type:
- Article
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
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- Human Molecular Genetics, 2015, v. 24, n. 4, p. 987, doi. 10.1093/hmg/ddu513
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- Publication type:
- Article
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
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- Human Molecular Genetics, 2014, v. 23, n. 22, p. 5940, doi. 10.1093/hmg/ddu318
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- Publication type:
- Article
CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.
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- Human Molecular Genetics, 2013, v. 22, n. 25, p. 5199, doi. 10.1093/hmg/ddt374
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- Publication type:
- Article
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
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- Human Molecular Genetics, 2013, v. 22, n. 11, p. 2177, doi. 10.1093/hmg/ddt070
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- Publication type:
- Article
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.
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- Human Molecular Genetics, 2012, v. 21, n. 2, p. 358, doi. 10.1093/hmg/ddr471
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- Publication type:
- Article
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
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- Human Molecular Genetics, 2008, v. 17, n. 21, p. 3436, doi. 10.1093/hmg/ddn259
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- Publication type:
- Article
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2753, doi. 10.1093/hmg/ddn160
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- Publication type:
- Article
Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human.
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- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2591, doi. 10.1093/hmg/ddm216
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- Publication type:
- Article
Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies.
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- Human Molecular Genetics, 2006, v. 15, n. 18, p. 2772, doi. 10.1093/hmg/ddl218
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- Publication type:
- Article
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 6, p. 827, doi. 10.1093/hmg/ddi076
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- Publication type:
- Article
Gene-Ontology analysis reveals association of tissue-specific 5′ CpG-island genes with development and embryogenesis.
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- Human Molecular Genetics, 2004, v. 13, n. 17, p. 1969, doi. 10.1093/hmg/ddh207
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- Publication type:
- Article
Haplotypes and SNPs in 13 lipid-relevant genes explain most of the genetic variance in high-density lipoprotein and low-density lipoprotein cholesterol.
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- Human Molecular Genetics, 2004, v. 13, n. 10, p. 993, doi. 10.1093/hmg/ddh119
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- Publication type:
- Article
Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03099-x
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- Publication type:
- Article