Found: 36
Select item for more details and to access through your institution.
Novel mutation in the membrane metalloendopeptidase gene in a patient with the autosomal recessive form of Charcot-Marie-Tooth disease.
- Published in:
- Neurology & Clinical Neuroscience, 2017, v. 5, n. 4, p. 124, doi. 10.1111/ncn3.12126
- By:
- Publication type:
- Article
Novel COL6A2 mutation in a case of limb girdle muscular dystrophy phenotype with autosomal recessive inheritance.
- Published in:
- Neurology & Clinical Neuroscience, 2016, v. 4, n. 5, p. 189, doi. 10.1111/ncn3.12068
- By:
- Publication type:
- Article
Early prediction of functional prognosis in neurofibromatosis type 2 patients based on genotype–phenotype correlation with targeted deep sequencing.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-13580-9
- By:
- Publication type:
- Article
Novel De Novo <italic>KCND3</italic> Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia.
- Published in:
- Cerebellum, 2018, v. 17, n. 2, p. 237, doi. 10.1007/s12311-017-0883-4
- By:
- Publication type:
- Article
Identification of candidate genes involved in the etiology of sporadic Tourette syndrome by exome sequencing.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 7, p. 712, doi. 10.1002/ajmg.b.32559
- By:
- Publication type:
- Article
CSF1R Mutations Identified in Three Families With Autosomal Dominantly Inherited Leukoencephalopathy.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2012, v. 159B, n. 8, p. 951, doi. 10.1002/ajmg.b.32100
- By:
- Publication type:
- Article
Integrative analysis of genomic alterations in triple-negative breast cancer in association with homologous recombination deficiency.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 6, p. 1, doi. 10.1371/journal.pgen.1006853
- By:
- Publication type:
- Article
Decreasing trend of tropical cyclone frequency in 228-year high-resolution AGCM simulations.
- Published in:
- Geophysical Research Letters, 2012, v. 39, n. 19, p. n/a, doi. 10.1029/2012GL053360
- By:
- Publication type:
- Article
Identification of <i>ATP1A3</i> Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056120
- By:
- Publication type:
- Article
Associations between nucleosome phasing, sequence asymmetry, and tissue-specific expression in a set of inbred Medaka species.
- Published in:
- BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/s12864-015-2198-5
- By:
- Publication type:
- Article
A Mechanism of Tropical Precipitation Change due to CO[sub 2] Increase.
- Published in:
- Journal of Climate, 2004, v. 17, n. 1, p. 238, doi. 10.1175/1520-0442(2004)017<0238:AMOTPC>2.0.CO;2
- By:
- Publication type:
- Article
R-Curve Behavior of a Polycrystalline Graphite: Microcracking and Grain Bridging in the Wake Region.
- Published in:
- Journal of the American Ceramic Society, 1988, v. 71, n. 8, p. 609, doi. 10.1111/j.1151-2916.1988.tb06377.x
- By:
- Publication type:
- Article
Expression profile analysis in cells overexpressing DRPLA cDNA to explore the roles of DRPLAp as a transcriptional coregulator.
- Published in:
- Neurology & Clinical Neuroscience, 2022, v. 10, n. 4, p. 210, doi. 10.1111/ncn3.12607
- By:
- Publication type:
- Article
Sporadic progressive myoclonic epilepsy with early‐onset dementia caused by a de novo mutation in PSEN1.
- Published in:
- Neurology & Clinical Neuroscience, 2019, v. 7, n. 5, p. 294, doi. 10.1111/ncn3.12319
- By:
- Publication type:
- Article
Theoretical study of the properties of X‐ray diffraction moiré fringes. III. Theoretical simulation of previous experimental moiré images.
- Published in:
- Acta Crystallographica. Section A, Foundations & Advances, 2020, v. 76, n. 4, p. 503, doi. 10.1107/S205327332000532X
- By:
- Publication type:
- Article
Theoretical study of the properties of X‐ray diffraction moiré fringes. I. Corrigenda and addenda.
- Published in:
- Acta Crystallographica. Section A, Foundations & Advances, 2019, v. 75, n. 4, p. 652, doi. 10.1107/S2053273319006557
- By:
- Publication type:
- Article
Theoretical study of the properties of X‐ray diffraction moiré fringes. II. Illustration of angularly integrated moiré images.
- Published in:
- Acta Crystallographica. Section A, Foundations & Advances, 2019, v. 75, n. 4, p. 610, doi. 10.1107/S2053273319004601
- By:
- Publication type:
- Article
Theoretical study of the properties of X-ray diffraction moiré fringes. I.
- Published in:
- Acta Crystallographica. Section A, Foundations & Advances, 2015, v. 71, n. 4, p. 368, doi. 10.1107/S2053273315004970
- By:
- Publication type:
- Article
Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation.
- Published in:
- Neuropathology & Applied Neurobiology, 2015, v. 41, n. 3, p. 391, doi. 10.1111/nan.12179
- By:
- Publication type:
- Article
Characterization of lattice defects in strontium titanate single crystals by X-ray topography and transmission electron microscopy.
- Published in:
- Journal of Electron Microscopy, 2000, v. 49, n. 1, p. 89, doi. 10.1093/oxfordjournals.jmicro.a023797
- By:
- Publication type:
- Article
Muscle Transcriptomics Shows Overexpression of Cadherin 1 in Inclusion Body Myositis.
- Published in:
- Annals of Neurology, 2022, v. 91, n. 3, p. 317, doi. 10.1002/ana.26304
- By:
- Publication type:
- Article
Comparison of Endovascular Therapy and Open Surgical Revascularization in Patients With Acute Superior Mesenteric Artery Occlusion: A Large-Scale Analysis Based on the JROAD-DPC Database.
- Published in:
- Journal of the American Heart Association, 2024, v. 13, n. 12, p. 1, doi. 10.1161/JAHA.124.035017
- By:
- Publication type:
- Article
Comprehensive investigation of RNF213 nonsynonymous variants associated with intracranial artery stenosis.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68888-1
- By:
- Publication type:
- Article
Modeling neurological diseases with induced pluripotent cells reprogrammed from immortalized lymphoblastoid cell lines.
- Published in:
- Molecular Brain, 2016, v. 9, p. 1, doi. 10.1186/s13041-016-0267-6
- By:
- Publication type:
- Article
Long-read metagenomic exploration of extrachromosomal mobile genetic elements in the human gut.
- Published in:
- Microbiome, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40168-019-0737-z
- By:
- Publication type:
- Article
Hamster PIWI proteins bind to piRNAs with stage-specific size variations during oocyte maturation.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. 5, p. 2700, doi. 10.1093/nar/gkab059
- By:
- Publication type:
- Article
Centromere evolution and CpG methylation during vertebrate speciation.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01982-7
- By:
- Publication type:
- Article
Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation.
- Published in:
- Human Mutation, 2020, v. 41, n. 8, p. 1447, doi. 10.1002/humu.24058
- By:
- Publication type:
- Article
Mid-term results of stent-less coronary intervention using rotational atherectomy and drug-coated balloon for de-novo lesions in hemodialysis patients.
- Published in:
- Minerva Cardiology & Angiology, 2023, v. 71, n. 3, p. 294, doi. 10.23736/S2724-5683.22.06101-4
- By:
- Publication type:
- Article
Experimental observation of a strange temporal oscillation of X-ray Pendellösung fringes.
- Published in:
- Journal of Synchrotron Radiation, 2009, v. 16, n. 5, p. 601, doi. 10.1107/S0909049509029586
- By:
- Publication type:
- Article
Reciprocal correlation between fringe contrast and amplitude of an anomalous oscillation of X-ray Pendellösung fringes.
- Published in:
- Journal of Synchrotron Radiation, 2004, v. 11, n. 5, p. 439, doi. 10.1107/S0909049504017935
- By:
- Publication type:
- Article
A recurrent de novo FAM111A mutation causes kenny-caffey syndrome type 2.
- Published in:
- Journal of Bone & Mineral Research, 2014, v. 29, n. 4, p. 992, doi. 10.1002/jbmr.2091
- By:
- Publication type:
- Article
Splice-site mutations in KIF5A in the Japanese case series of amyotrophic lateral sclerosis.
- Published in:
- Neurogenetics, 2021, v. 22, n. 1, p. 11, doi. 10.1007/s10048-020-00626-1
- By:
- Publication type:
- Article
AgIn: measuring the landscape of CpG methylation of individual repetitive elements.
- Published in:
- Bioinformatics, 2016, v. 32, n. 19, p. 2911, doi. 10.1093/bioinformatics/btw360
- By:
- Publication type:
- Article
Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing.
- Published in:
- Bioinformatics, 2014, v. 30, n. 6, p. 815, doi. 10.1093/bioinformatics/btt647
- By:
- Publication type:
- Article
UTGB toolkit for personalized genome browsers.
- Published in:
- Bioinformatics, 2009, v. 25, n. 15, p. 1856, doi. 10.1093/bioinformatics/btp350
- By:
- Publication type:
- Article