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A Case Report of Primary Neonatal Hypocholinesterase Caused by Homozygous Frameshift Mutation of the Butyrylcholinesterase (BCHE) Gene and Review of Literature.
- Published in:
- Clinical Laboratory, 2019, v. 65, n. 7, p. 1361, doi. 10.7754/Clin.Lab.2019.181254
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- Publication type:
- Article
Personalized Immunotherapy Achieves Complete Response in Metastatic Adenoid Cystic Carcinoma Despite Lack of Conventional Biomarkers.
- Published in:
- Current Oncology, 2024, v. 31, n. 10, p. 5838, doi. 10.3390/curroncol31100434
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- Publication type:
- Article
A novel homozygous frameshift mutation in DSG1 gene in an Indian consanguineous family with severe dermatitis, multiple allergies and metabolic wasting syndrome.
- Published in:
- 2021
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- Publication type:
- Letter
Osteogenesis Imperfecta Type I Caused by COL1A1 Deletions.
- Published in:
- 2016
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- Publication type:
- journal article
A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal diabetes mellitus: molecular characterization and structural analysis.
- Published in:
- Acta Diabetologica, 2024, v. 61, n. 2, p. 189, doi. 10.1007/s00592-023-02192-y
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- Publication type:
- Article
Construction and Mechanism of tectb Inner Ear Gene Knockout Line in Zebrafish.
- Published in:
- Journal of Laser Biology / Acta Laser Biology Sinica, 2024, v. 33, n. 2, p. 143, doi. 10.3969/j.issn.1007-7146.2024.02.006
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- Publication type:
- Article
东方蜜蜂微孢子虫的 SNP 与 InDel 位点鉴定及分析.
- Published in:
- Chinese Journal of Applied Entomology, 2022, v. 59, n. 3, p. 618, doi. 10.7679/j.issn.2095-1353.2022.064
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- Publication type:
- Article
Atypical Mowat‐Wilson Syndrome: Dystonia, Choreoathetosis and Cognitive Features.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 7, p. 889, doi. 10.1002/mdc3.14050
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- Publication type:
- Article
Aceruloplasminemia Presenting with Asymmetric Chorea Due to a Novel Frameshift Mutation.
- Published in:
- Movement Disorders Clinical Practice, 2020, v. 7, p. S67, doi. 10.1002/mdc3.13062
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- Publication type:
- Article
A Case of McLeod Syndrome with A Novel XK Missense Mutation.
- Published in:
- 2018
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- Publication type:
- Case Study
A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 7, p. 2605, doi. 10.1007/s10072-023-06748-2
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- Publication type:
- Article
Letter to the Editor: Novel TREM2 frameshift mutation in a 30-year-old woman with suspected frontotemporal dementia.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 7, p. 2581, doi. 10.1007/s10072-023-06726-8
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- Publication type:
- Article
A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 7, p. 2969, doi. 10.1007/s10072-021-05117-1
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- Publication type:
- Article
CACNA1B gene variants in adult-onset isolated focal dystonia.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 3, p. 1113, doi. 10.1007/s10072-020-04778-8
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- Publication type:
- Article
Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutations.
- Published in:
- Neurological Sciences, 2020, v. 41, n. 8, p. 2271, doi. 10.1007/s10072-020-04417-2
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- Publication type:
- Article
A novel SPAST frameshift mutation in a Chinese family with hereditary spastic paraplegia.
- Published in:
- 2017
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- Publication type:
- Case Study
A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.
- Published in:
- Neurological Sciences, 2015, v. 36, n. 8, p. 1387, doi. 10.1007/s10072-015-2121-5
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- Publication type:
- Article
Tigecycline resistance in Acinetobacter baumannii mediated by frameshift mutation in plsC, encoding 1-acyl-sn-glycerol-3-phosphate acyltransferase.
- Published in:
- European Journal of Clinical Microbiology & Infectious Diseases, 2015, v. 34, n. 3, p. 625, doi. 10.1007/s10096-014-2272-y
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- Publication type:
- Article
An NDM-Producing Escherichia coli Clinical Isolate Exhibiting Resistance to Cefiderocol and the Combination of Ceftazidime-Avibactam and Aztreonam: Another Step Toward Pan-β-Lactam Resistance.
- Published in:
- Open Forum Infectious Diseases, 2023, v. 10, n. 7, p. 1, doi. 10.1093/ofid/ofad276
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- Publication type:
- Article
232. Genomic Evidence for Dissemination of Mycobacterium marinum in an HIV Patient with Multifocal Cutaneous Disease.
- Published in:
- Open Forum Infectious Diseases, 2019, v. 6, p. S133, doi. 10.1093/ofid/ofz360.307
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- Publication type:
- Article
RNF43 R117fs mutant positively regulates Wnt/β-catenin signaling by failing to internalize FZD expressed on the cell surface.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10868-8
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- Publication type:
- Article
A clinically relevant heterozygous ATR mutation sensitizes colorectal cancer cells to replication stress.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09308-4
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- Publication type:
- Article
Identification of a novel SARS-CoV-2 variant with a truncated protein in ORF8 gene by next generation sequencing.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-08780-2
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- Publication type:
- Article
Substantial rearrangements, single nucleotide frameshift deletion and low diversity in mitogenome of Wolbachia-infected strepsipteran endoparasitoid in comparison to its tephritid hosts.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-021-04398-y
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- Publication type:
- Article
Novel PAX9 Mutations Causing Isolated Oligodontia.
- Published in:
- Journal of Personalized Medicine, 2024, v. 14, n. 2, p. 191, doi. 10.3390/jpm14020191
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- Publication type:
- Article
A Novel PAX6 Frameshift Mutation Identified in a Large Chinese Family with Congenital Aniridia.
- Published in:
- Journal of Personalized Medicine, 2023, v. 13, n. 3, p. 442, doi. 10.3390/jpm13030442
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- Publication type:
- Article
The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.
- Published in:
- Journal of Personalized Medicine, 2023, v. 13, n. 2, p. 172, doi. 10.3390/jpm13020172
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- Publication type:
- Article
Novel LRP6 Mutations Causing Non-Syndromic Oligodontia.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 9, p. N.PAG, doi. 10.3390/jpm12091401
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- Publication type:
- Article
Fabry Disease in Slovakia: How the Situation Has Changed over 20 Years of Treatment.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 6, p. 922, doi. 10.3390/jpm12060922
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- Publication type:
- Article
Ultrarare Loss-of-Function Mutations in the Genes Encoding the Ionotropic Glutamate Receptors of Kainate Subtypes Associated with Schizophrenia Disrupt the Interaction with PSD95.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 5, p. 783, doi. 10.3390/jpm12050783
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- Publication type:
- Article
Establishment and Characterization of MUi027-A: A Novel Patient-Derived Cell Line of Polycystic Kidney Disease with PKD1 Mutation.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 5, p. 766, doi. 10.3390/jpm12050766
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- Publication type:
- Article
Novel KLK4 Mutations Cause Hypomaturation Amelogenesis Imperfecta.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 2, p. N.PAG, doi. 10.3390/jpm12020150
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- Publication type:
- Article
Novel Mutations in GPR68 and SLC24A4 Cause Hypomaturation Amelogenesis Imperfecta.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 1, p. 13, doi. 10.3390/jpm12010013
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- Publication type:
- Article
Case report: A novel frameshift mutation in BRSK2 causes autism in a 16-year old Chinese boy.
- Published in:
- Frontiers in Psychiatry, 2023, p. 1, doi. 10.3389/fpsyt.2023.1205204
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- Publication type:
- Article
Novel Hemizygous Mutations of TEX11 Cause Meiotic Arrest and Non-obstructive Azoospermia in Chinese Han Population.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.741355
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- Publication type:
- Article
Case Report: Pathogenic MYH9 c.5797delC Mutation in a Patient With Apparent Thrombocytopenia and Nephropathy.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.705832
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- Publication type:
- Article
Integrated Genome and Transcriptome Sequencing to Solve a Neuromuscular Puzzle: Miyoshi Muscular Dystrophy and Early Onset Primary Dystonia in Siblings of the Same Family.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.672906
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- Publication type:
- Article
Compound Heterozygosity for KLF1 Mutations Causing Hemolytic Anemia in Children: A Case Report and Literature Review.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.691461
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- Publication type:
- Article
Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.658786
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- Publication type:
- Article
Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.643452
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- Publication type:
- Article
The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.575750
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- Publication type:
- Article
Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.581253
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- Publication type:
- Article
IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00937
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- Publication type:
- Article
Novel Variation and Evolution of AvrPiz-t of Magnaporthe oryzae in Field Isolates.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00746
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- Publication type:
- Article
It Is All in the Genes: A Story of Unexpected Survival in a 67-Year-Old Male with Metastatic Pancreatic Cancer.
- Published in:
- 2023
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- Publication type:
- Case Study
Oncogenic CALR mutant C-terminus mediates dual binding to the thrombopoietin receptor triggering complex dimerization and activation.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37277-3
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- Publication type:
- Article
Integrative genetic analysis illuminates ALS heritability and identifies risk genes.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-022-35724-1
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- Publication type:
- Article
Mutant RIG-I enhances cancer-related inflammation through activation of circRIG-I signaling.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-34885-3
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- Publication type:
- Article
Distinctive roles of translesion polymerases DinB1 and DnaE2 in diversification of the mycobacterial genome through substitution and frameshift mutagenesis.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32022-8
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- Publication type:
- Article
Genomic epidemiology of Delta SARS-CoV-2 during transition from elimination to suppression in Aotearoa New Zealand.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31784-5
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- Publication type:
- Article