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Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Japanese case of Emery-Dreifuss muscular dystrophy with a novel LMNA missense mutation.
- Published in:
- Neurology & Clinical Neuroscience, 2016, v. 4, n. 3, p. 124, doi. 10.1111/ncn3.12047
- By:
- Publication type:
- Article
Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
- Published in:
- 2021
- By:
- Publication type:
- corrected article
Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment.
- Published in:
- 2021
- By:
- Publication type:
- journal article
HERV-Derived Ervpb1 Is Conserved in Simiiformes, Exhibiting Expression in Hematopoietic Cell Lineages Including Macrophages.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4504, doi. 10.3390/ijms22094504
- By:
- Publication type:
- Article
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Characterization of glycerophosphodiesterase 4-interacting molecules Gαq/11 and Gβ, which mediate cellular lysophospholipase D activity.
- Published in:
- Biochemical Journal, 2019, v. 476, n. 24, p. 3721, doi. 10.1042/BCJ20190666
- By:
- Publication type:
- Article
Transcriptional suppression of CTP:phosphoethanolamine cytidylyltransferase by 25-hydroxycholesterol is mediated by nuclear factor-Y and Yin Yang 1.
- Published in:
- Biochemical Journal, 2015, v. 471, n. 3, p. 369, doi. 10.1042/BJ20150318
- By:
- Publication type:
- Article
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01042-w
- By:
- Publication type:
- Article
SOFT syndrome in a patient from Chile.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 338, doi. 10.1002/ajmg.a.61015
- By:
- Publication type:
- Article
Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 772, doi. 10.1002/ajmg.a.35243
- By:
- Publication type:
- Article
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.
- Published in:
- Skeletal Muscle, 2015, v. 5, n. 1, p. 1, doi. 10.1186/s13395-015-0056-4
- By:
- Publication type:
- Article
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing.
- Published in:
- Clinical Epigenetics, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13148-021-01192-5
- By:
- Publication type:
- Article
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Targeted nanopore sequencing using the Flongle device to identify mitochondrial DNA variants.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-75749-8
- By:
- Publication type:
- Article
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10482-9
- By:
- Publication type:
- Article
Plasmid analysis of NDM metallo-β-lactamase-producing Enterobacterales isolated in Vietnam.
- Published in:
- PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0231119
- By:
- Publication type:
- Article
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 8, p. 1, doi. 10.26508/lsa.202302025
- By:
- Publication type:
- Article
Comprehensive genomic analysis reveals dynamic evolution of endogenous retroviruses that code for retroviral-like protein domains.
- Published in:
- Mobile DNA, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13100-020-00224-w
- By:
- Publication type:
- Article
Zmynd17 controls muscle mitochondrial quality and whole-body metabolism.
- Published in:
- FASEB Journal, 2018, v. 32, n. 9, p. 5012, doi. 10.1096/fj.201701264R
- By:
- Publication type:
- Article
Molecular characterization of feline paramyxovirus in Japanese cat populations.
- Published in:
- Archives of Virology, 2020, v. 165, n. 2, p. 413, doi. 10.1007/s00705-019-04480-x
- By:
- Publication type:
- Article
GRIN2D variants in three cases of developmental and epileptic encephalopathy.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 538, doi. 10.1111/cge.13454
- By:
- Publication type:
- Article
A novel CYCS mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 548, doi. 10.1111/cge.13423
- By:
- Publication type:
- Article
Novel SUZ12 mutations in Weaver‐like syndrome.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 5, p. 461, doi. 10.1111/cge.13415
- By:
- Publication type:
- Article
Reply to "GGC Repeat Expansion of NOTCH2NLC is Rare in European Leukoencephalopathy".
- Published in:
- 2020
- By:
- Publication type:
- Letter
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Recurrent SCN3A p.Ile875Thr variant in patients with polymicrogyria.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00131-9
- By:
- Publication type:
- Article
Nonsense variants of STAG2 result in distinct congenital anomalies.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00114-w
- By:
- Publication type:
- Article
Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 7, p. 552, doi. 10.1093/hmg/ddab063
- By:
- Publication type:
- Article
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 14, p. 2319, doi. 10.1093/hmg/ddz066
- By:
- Publication type:
- Article
A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 23, p. 4024, doi. 10.1093/hmg/ddy293
- By:
- Publication type:
- Article
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 8, p. 1421, doi. 10.1093/hmg/ddy052
- By:
- Publication type:
- Article
Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 15, p. 2984, doi. 10.1093/hmg/ddx189
- By:
- Publication type:
- Article
Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 3, p. 568, doi. 10.1093/hmg/dds467
- By:
- Publication type:
- Article
Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 19, p. 3841, doi. 10.1093/hmg/ddr305
- By:
- Publication type:
- Article
Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-020-00853-3
- By:
- Publication type:
- Article
High-density areas on muscle CT in childhood-onset Pompe disease are caused by excess calcium accumulation.
- Published in:
- 2010
- By:
- Publication type:
- Report
Wilson disease (novel ATP7B variants) with concomitant FLNC-related cardiomyopathy.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00283-y
- By:
- Publication type:
- Article
Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy.
- Published in:
- FEBS Letters, 2013, v. 587, n. 18, p. 2952, doi. 10.1016/j.febslet.2013.08.002
- By:
- Publication type:
- Article
A novel NODAL variant in a young embolic stroke patient with visceral heterotaxy.
- Published in:
- BMC Neurology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12883-024-03619-x
- By:
- Publication type:
- Article
Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads.
- Published in:
- Genome Biology, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s13059-019-1667-6
- By:
- Publication type:
- Article
Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease.
- Published in:
- Arthritis Research & Therapy, 2019, v. 21, n. 1, p. N.PAG, doi. 10.1186/s13075-019-1928-5
- By:
- Publication type:
- Article
Detection of pathogenic bacteria in the blood from sepsis patients using 16S rRNA gene amplicon sequencing analysis.
- Published in:
- PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0202049
- By:
- Publication type:
- Article
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
- Published in:
- Neurogenetics, 2012, v. 13, n. 2, p. 115, doi. 10.1007/s10048-012-0315-z
- By:
- Publication type:
- Article
A pipeline for complete characterization of complex germline rearrangements from long DNA reads.
- Published in:
- Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00762-1
- By:
- Publication type:
- Article