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KMT2B rare missense variants in generalized dystonia.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A homozygous splice variant in AP4S1 mimicking neurodegeneration with brain iron accumulation.
- Published in:
- 2017
- By:
- Publication type:
- case study
Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
- Published in:
- 2017
- By:
- Publication type:
- journal article
DYT16 revisited: Exome sequencing identifies PRKRA mutations in a European dystonia family.
- Published in:
- Movement Disorders, 2014, v. 29, n. 12, p. 1504, doi. 10.1002/mds.25981
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- Publication type:
- Article
A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.
- Published in:
- 2007
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- Publication type:
- journal article
Systemic Jak1 activation provokes hepatic inflammation and imbalanced FGF23 production and cleavage.
- Published in:
- FASEB Journal, 2021, v. 35, n. 2, p. 1, doi. 10.1096/fj.202002113R
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- Publication type:
- Article
Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3.
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- FASEB Journal, 2020, v. 34, n. 7, p. 9018, doi. 10.1096/fj.201902888R
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- Publication type:
- Article
Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken.
- Published in:
- BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/s12864-015-2059-2
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- Publication type:
- Article
Genomic factors related to tissue tropism in Chlamydia pneumoniae infection.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1377-8
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- Publication type:
- Article
Genomic factors related to tissue tropism in Chlamydia pneumoniae infection.
- Published in:
- BMC Genomics, 2015, v. 16, n. 1, p. 268, doi. 10.1186/s12864-015-1377-8
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- Publication type:
- Article
A powerful tool for genome analysis in maize: development and evaluation of the high density 600 k SNP genotyping array.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 823, doi. 10.1186/1471-2164-15-823
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- Publication type:
- Article
Assessment of the genomic variation in a cattle population by re-sequencing of key animals at low to medium coverage.
- Published in:
- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-446
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- Publication type:
- Article
Development of a high density 600K SNP genotyping array for chicken.
- Published in:
- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-59
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- Publication type:
- Article
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.
- Published in:
- Nature, 2004, v. 427, n. 6974, p. 537, doi. 10.1038/nature02214
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- Publication type:
- Article
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
- Published in:
- 2017
- By:
- Publication type:
- journal article
SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
CRIM1 haploinsufficiency causes defects in eye development in human and mouse.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 8, p. 2267, doi. 10.1093/hmg/ddu744
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- Publication type:
- Article
Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 10, p. 2205, doi. 10.1093/hmg/dds035
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- Publication type:
- Article
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 3, p. 385, doi. 10.1093/hmg/ddi034
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- Publication type:
- Article
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.
- Published in:
- Medizinische Genetik, 2022, v. 34, n. 1, p. 41, doi. 10.1515/medgen-2022-2115
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- Publication type:
- Article
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
- Published in:
- 2021
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- Publication type:
- journal article
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Bi-allelic truncating mutations in VWA1 cause neuromyopathy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.
- Published in:
- 2019
- By:
- Publication type:
- case study
CAD mutations and uridine-responsive epileptic encephalopathy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
KCNC1‐related disorders: new de novo variants expand the phenotypic spectrum.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1319, doi. 10.1002/acn3.50799
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- Publication type:
- Article
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2017, p. 1, doi. 10.1155/2017/7202589
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- Publication type:
- Article
Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 12, p. 1430, doi. 10.1038/ejhg.2008.110
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- Publication type:
- Article
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 138, doi. 10.1038/sj.ejhg.5200938
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- Publication type:
- Article
Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse.
- Published in:
- European Journal of Human Genetics, 1998, v. 6, n. 3, p. 283, doi. 10.1038/sj.ejhg.5200215
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- Publication type:
- Article
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2017, v. 95, n. 3, p. e250, doi. 10.1111/aos.13293
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- Publication type:
- Article
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.
- Published in:
- Nature Genetics, 2015, v. 47, n. 8, p. 962, doi. 10.1038/ng0815-962b
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- Publication type:
- Article
Mutations in the deubiquitinase gene USP8 cause Cushing's disease.
- Published in:
- Nature Genetics, 2015, v. 47, n. 1, p. 31, doi. 10.1038/ng.3166
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- Publication type:
- Article
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
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- Nature Genetics, 2013, v. 45, n. 4, p. 440, doi. 10.1038/ng.2550
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- Publication type:
- Article
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
- Published in:
- Nature Genetics, 2009, v. 41, n. 6, p. 654, doi. 10.1038/ng.378
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- Publication type:
- Article
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
- Published in:
- Nature Genetics, 2007, v. 39, n. 7, p. 889, doi. 10.1038/ng2066
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- Publication type:
- Article
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
- Published in:
- Nature Genetics, 2006, v. 38, n. 11, p. 1248, doi. 10.1038/ng1868
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- Publication type:
- Article
Classic Selective Sweeps Revealed by Massive Sequencing in Cattle.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 2, p. 1, doi. 10.1371/journal.pgen.1004148
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- Publication type:
- Article
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
- Published in:
- 2011
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- Publication type:
- journal article
Overexpression of <italic>UHRF1</italic> promotes silencing of tumor suppressor genes and predicts outcome in hepatoblastoma.
- Published in:
- Clinical Epigenetics, 2018, v. 10, p. 1, doi. 10.1186/s13148-018-0462-7
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- Publication type:
- Article
Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 6, p. 875, doi. 10.1002/ajmg.b.32458
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- Publication type:
- Article
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 6, p. 571, doi. 10.1111/cge.13851
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- Publication type:
- Article
MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 1, p. 182, doi. 10.1111/cge.13462
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- Publication type:
- Article
A NOTCH3 homozygous nonsense mutation in familial Sneddon syndrome with pediatric stroke.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 3, p. 810, doi. 10.1007/s00415-020-10081-5
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- Publication type:
- Article
Congenital myasthenic syndrome caused by novel COL13A1 mutations.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 5, p. 1107, doi. 10.1007/s00415-019-09239-7
- By:
- Publication type:
- Article
Mutations outside the N-terminal part of <italic>RBCK1</italic> may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype–phenotype spectrum.
- Published in:
- Journal of Neurology, 2018, v. 265, n. 2, p. 394, doi. 10.1007/s00415-017-8710-x
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- Publication type:
- Article
New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice.
- Published in:
- Mammalian Genome, 2004, v. 15, n. 3, p. 151, doi. 10.1007/s00335-003-2310-z
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- Publication type:
- Article
Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families.
- Published in:
- PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0100146
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- Publication type:
- Article
A High Resolution Genome-Wide Scan for Significant Selective Sweeps: An Application to Pooled Sequence Data in Laying Chickens.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049525
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- Publication type:
- Article
Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness.
- Published in:
- Deutsches Ärzteblatt International, 2019, v. 116, n. 12, p. 197, doi. 10.3238/arztebl.2019.0197
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- Publication type:
- Article