Works about GENETIC testing
Results: 5000
Adult-Onset Neuronal Ceroid Lipofuscinosis: CLN5 Variant Presenting as Focal Dystonia.
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- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.941
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A Case of a Patient With MYH2-Associated Myopathy Presenting With a Chief Complaint of Hand Tremor.
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- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.932
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Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor.
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- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.889
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A Novel KCNQ2 Variant in a Patient with a Combined Tremor Syndrome.
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- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.887
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The First Case of Huntington's Disease like 2 in Mali, West Africa.
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- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.859
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Genetic Testing of Movements Disorders: A Review of Clinical Utility.
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- Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.835
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High Genetic Diagnostic Yield of Whole Exome Sequencing in Children with Epilepsy and Neurodevelopmental Disorders.
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- Fetal & Pediatric Pathology, 2025, v. 44, n. 1, p. 25, doi. 10.1080/15513815.2024.2434919
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Utility, benefits, and risks of newborn genetic screening carrier reports for families.
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- Journal of Global Health, 2024, v. 14, p. 1, doi. 10.7189/jogh.14.04044
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Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene.
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- Neurological Sciences, 2025, v. 46, n. 2, p. 911, doi. 10.1007/s10072-024-07834-9
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Myotonia may be a sign that prompts genetic testing for myotonic dystrophy type 1.
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- European Research Journal, 2025, v. 11, n. 1, p. 74, doi. 10.18621/eurj.1553885
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Case Report: Novel ADA2 variants cause atypical adenosine deaminase 2 deficiency.
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- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2024.1478581
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Clinical manifestations of Johanson-Blizzard syndrome in a patient with nucleotide variants in the UBR1 gene.
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- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 88, n. 10, p. 885, doi. 10.2298/VSP220803003J
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The importance of direct genetic testing for determining female carriers of the mutation in dystrophinopathies.
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- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 80, n. 3, p. 201, doi. 10.2298/VSP190208030M
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- Article
Birth of a healthy child fathered by a man with Klinefelter's syndrome after preimplantation genetic testing.
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- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2021, v. 78, n. 8, p. 896, doi. 10.2298/VSP190715138T
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GLUT1 deficiency syndrome: a case report with a novel SLC2A1 mutation.
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- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2019, v. 76, n. 5, p. 543, doi. 10.2298/VSP170406120I
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Hereditary hemorrhagic telangiectasia associated with inherited thrombophilia.
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- Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2017, v. 74, n. 5, p. 489, doi. 10.2298/VSP150601105R
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DNA damage: ubiquitin marks the spot.
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- Nature Structural & Molecular Biology, 2008, v. 15, n. 1, p. 20, doi. 10.1038/nsmb0108-20
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Genetic testing in the European Union: does economic evaluation matter?
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- European Journal of Health Economics, 2012, v. 13, n. 5, p. 651, doi. 10.1007/s10198-011-0319-x
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Genetic screening, health care and the insurance industry: Should genetic information be made available to insurers?
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- European Journal of Health Economics, 2004, v. 5, n. 2, p. 116, doi. 10.1007/s10198-003-0213-2
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"I Looked in the Mirror. I Was Like, 'Where?'": (Re)constructing Ethnic-Racial Identity after Receiving Direct-To-Consumer Genetic Test Results.
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- Southern Communication Journal, 2023, v. 88, n. 4, p. 340, doi. 10.1080/1041794X.2023.2165702
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Do Genetic Factors Influence Religious Life? Findings from a Behavior Genetic Analysis of Twin Siblings.
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- Journal for the Scientific Study of Religion, 2008, v. 47, n. 4, p. 529, doi. 10.1111/j.1468-5906.2008.00425.x
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Genetic testing and human autonomy.
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- South African Journal of Philosophy, 2004, v. 23, n. 1, p. 69, doi. 10.4314/sajpem.v23i1.31385
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Yeast α-arrestin Art2 is the key regulator of ubiquitylation-dependent endocytosis of plasma membrane vitamin B1 transporters.
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- PLoS Biology, 2019, v. 17, n. 10, p. 1, doi. 10.1371/journal.pbio.3000512
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Opposing signaling pathways regulate morphology in response to temperature in the fungal pathogen Histoplasma capsulatum.
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- PLoS Biology, 2019, v. 17, n. 9, p. 1, doi. 10.1371/journal.pbio.3000168
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Targeted genetic screening in mice through haploid embryonic stem cells identifies critical genes in bone development.
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- PLoS Biology, 2019, v. 17, n. 7, p. 1, doi. 10.1371/journal.pbio.3000350
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CRISPR screening using an expanded toolkit of autophagy reporters identifies TMEM41B as a novel autophagy factor.
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- PLoS Biology, 2019, v. 17, n. 4, p. 1, doi. 10.1371/journal.pbio.2007044
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Genes, Patents, and the Supreme Court.
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- Research Technology Management, 2013, v. 56, n. 6, p. 4
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Both HMG boxes in Hmo1 are essential for DNA binding in vitro and in vivo.
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- Bioscience, Biotechnology & Biochemistry, 2015, v. 79, n. 3, p. 384, doi. 10.1080/09168451.2014.978258
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- Article
Dynamin-l-like protein (DnmlL) interaction with kinesin light chain 1 (KLC1) through the tetratricopeptide repeat (TPR) domains.
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- Bioscience, Biotechnology & Biochemistry, 2014, v. 78, n. 12, p. 2069, doi. 10.1080/09168451.2014.943652
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Articulospora sp. Produces Art1, an Inhibitor of Bacterial Histidine Kinase.
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- Bioscience, Biotechnology & Biochemistry, 2008, v. 72, n. 10, p. 2521, doi. 10.1271/bbb.80021
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Personal genomic testing for nutrition and wellness in Australia: A content analysis of online information.
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- Nutrition & Dietetics, 2019, v. 76, n. 3, p. 263, doi. 10.1111/1747-0080.12516
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Septal myectomy in the era of genetic testing.
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- Journal of Cardiac Surgery, 2022, v. 37, n. 10, p. 3454, doi. 10.1111/jocs.16792
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- Article
Ahnak1 is a tuneable modulator of cardiac Ca(v)1.2 calcium channel activity.
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- Journal of Muscle Research & Cell Motility, 2011, v. 32, n. 4/5, p. 281, doi. 10.1007/s10974-011-9269-2
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Loss of function of the carbon catabolite repressor CreA leads to low but inducer‐independent expression from the feruloyl esterase B promoter in Aspergillus niger.
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- Biotechnology Letters, 2021, v. 43, n. 7, p. 1323, doi. 10.1007/s10529-021-03104-2
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An improved colony PCR procedure for genetic screening of Chlorella and related microalgae.
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- Biotechnology Letters, 2011, v. 33, n. 8, p. 1615, doi. 10.1007/s10529-011-0596-6
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Power analyses to inform Duplex Sequencing study designs for MutaMouse liver and bone marrow.
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- Environmental & Molecular Mutagenesis, 2024, v. 65, n. 8, p. 234, doi. 10.1002/em.22619
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Determination of a positive response in the Ames Salmonella mutagenicity assay.
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- Environmental & Molecular Mutagenesis, 2023, v. 64, n. 4, p. 250, doi. 10.1002/em.22538
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Genetic toxicity testing using human in vitro organotypic airway cultures: Assessing DNA damage with the CometChip and mutagenesis by Duplex Sequencing.
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- Environmental & Molecular Mutagenesis, 2021, v. 62, n. 5, p. 306, doi. 10.1002/em.22444
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Biomarkers of genome instability in normal mammalian genomes following drug‐induced replication stress.
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- Environmental & Molecular Mutagenesis, 2020, v. 61, n. 8, p. 770, doi. 10.1002/em.22364
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3Rs‐friendly approach to exogenous metabolic activation that supports high‐throughput genetic toxicology testing.
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- Environmental & Molecular Mutagenesis, 2020, v. 61, n. 4, p. 408, doi. 10.1002/em.22361
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Celebrating 50 Years of EMGS: A Visionary Idea Continues.
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- Environmental & Molecular Mutagenesis, 2020, v. 61, n. 1, p. 5, doi. 10.1002/em.22350
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In utero Exposure to Genotoxicants Leading to Genetic Mosaicism: An Overlooked Window of Susceptibility in Genetic Toxicology Testing?
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- Environmental & Molecular Mutagenesis, 2020, v. 61, n. 1, p. 55, doi. 10.1002/em.22347
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The mutagenesis moonshot: The propitious beginnings of the environmental mutagenesis and genomics society.
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- Environmental & Molecular Mutagenesis, 2020, v. 61, n. 1, p. 8, doi. 10.1002/em.22313
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Genetic instability of in vitro cell lines: Implications for genetic toxicity testing.
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- Environmental & Molecular Mutagenesis, 2019, v. 60, n. 6, p. 559, doi. 10.1002/em.22280
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Genotype-driven therapeutic developments in Parkinson's disease.
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- Molecular Medicine, 2021, v. 27, n. 1, p. 1, doi. 10.1186/s10020-021-00281-8
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Functional analysis of KCNH2 gene mutations of type 2 long QT syndrome in larval zebrafish using microscopy and electrocardiography.
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- Heart & Vessels, 2019, v. 34, n. 1, p. 159, doi. 10.1007/s00380-018-1231-4
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Screening of genetic variants in ADCYAP1R1, MME and 14q21 in a Swedish cluster headache cohort.
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- Journal of Headache & Pain, 2017, v. 18, n. 1, p. 1, doi. 10.1186/s10194-017-0798-y
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The comparisons of phenotype and genotype between CADASIL and CADASIL-like patients and population-specific evaluation of CADASIL scale in China.
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- Journal of Headache & Pain, 2016, v. 17, n. 1, p. 1, doi. 10.1186/s10194-016-0646-5
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Lack of association between cluster headache and PER3 clock gene polymorphism.
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- Journal of Headache & Pain, 2016, v. 17, n. 1, p. 1, doi. 10.1186/s10194-016-0611-3
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Occlusive vascular Ehlers–Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case.
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- Surgery Today, 2013, v. 43, n. 12, p. 1467, doi. 10.1007/s00595-012-0355-x
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