Found: 30
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Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63516
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- Publication type:
- Article
Comments on the notion of false positivity in measurements of autoantibodies. Reply to Grill V, Sørgjerd E, Hals I, Carlsson S [letter].
- Published in:
- 2024
- By:
- Publication type:
- Letter
The challenges of identifying and studying type 1 diabetes in adults.
- Published in:
- Diabetologia, 2023, v. 66, n. 12, p. 2200, doi. 10.1007/s00125-023-06004-4
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- Publication type:
- Article
Recent UK type 2 diabetes treatment guidance represents a near whole population indication for SGLT2-inhibitor therapy.
- Published in:
- Cardiovascular Diabetology, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12933-023-02032-x
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- Publication type:
- Article
HbA<sub>1c</sub> screening for the diagnosis of diabetes. Reply to Brož J, Brabec M, Krollová P et al [letter].
- Published in:
- 2023
- By:
- Publication type:
- Letter
Correction to: The impact of population-level HbA<sub>1c</sub> screening on reducing diabetes diagnostic delay in middle-aged adults: a UK Biobank analysis.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Age of Diagnosis Does Not Alter the Presentation or Progression of Robustly Defined Adult-Onset Type 1 Diabetes.
- Published in:
- Diabetes Care, 2023, v. 46, n. 6, p. 1156, doi. 10.2337/dc22-2159
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- Publication type:
- Article
Clinical progress note: Life‐threatening side effects of targeted therapies for solid tumors.
- Published in:
- Journal of Hospital Medicine, 2023, v. 18, n. 3, p. 241, doi. 10.1002/jhm.12975
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- Publication type:
- Article
The impact of population-level HbA<sub>1c</sub> screening on reducing diabetes diagnostic delay in middle-aged adults: a UK Biobank analysis.
- Published in:
- Diabetologia, 2023, v. 66, n. 2, p. 300, doi. 10.1007/s00125-022-05824-0
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- Publication type:
- Article
The relationship between islet autoantibody status and the genetic risk of type 1 diabetes in adult-onset type 1 diabetes.
- Published in:
- Diabetologia, 2023, v. 66, n. 2, p. 310, doi. 10.1007/s00125-022-05823-1
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- Publication type:
- Article
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 7, p. 1, doi. 10.1101/mcs.a006242
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- Publication type:
- Article
Routine Islet Autoantibody Testing in Clinically Diagnosed Adult-Onset Type 1 Diabetes Can Help Identify Misclassification and the Possibility of Successful Insulin Cessation.
- Published in:
- Diabetes Care, 2022, v. 45, n. 12, p. 2844, doi. 10.2337/dc22-0623
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- Publication type:
- Article
Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate.
- Published in:
- BMC Bioinformatics, 2022, v. 22, n. 14, p. 1, doi. 10.1186/s12859-022-05008-y
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- Publication type:
- Article
A striking dichotomy.
- Published in:
- 2022
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- Publication type:
- journal article
Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1888
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- Publication type:
- Article
Correction to: DR15-DQ6 remains dominantly protective against type 1 diabetes throughout the first five decades of life.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Estimating disease prevalence in large datasets using genetic risk scores.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-26501-7
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- Publication type:
- Article
DR15-DQ6 remains dominantly protective against type 1 diabetes throughout the first five decades of life.
- Published in:
- Diabetologia, 2021, v. 64, n. 10, p. 2258, doi. 10.1007/s00125-021-05513-4
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- Publication type:
- Article
OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00854-6
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- Publication type:
- Article
Stories from COVID-19 Reveal Hospitalized Patients with Limited English Proficiency Have Always Been Uniquely Prone to Social Isolation.
- Published in:
- 2021
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- Publication type:
- Editorial
Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated Permanent Neonatal Diabetes.
- Published in:
- 2021
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- Publication type:
- journal article
Type 2 Diabetes and COVID-19-Related Mortality in the Critical Care Setting: A National Cohort Study in England, March-July 2020.
- Published in:
- 2021
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- Publication type:
- journal article
Type 1 diabetes defined by severe insulin deficiency occurs after 30 years of age and is commonly treated as type 2 diabetes.
- Published in:
- Diabetologia, 2019, v. 62, n. 7, p. 1167, doi. 10.1007/s00125-019-4863-8
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- Publication type:
- Article
SV-plaudit: A cloud-based framework for manually curating thousands of structural variants.
- Published in:
- GigaScience, 2018, v. 7, n. 7, p. N.PAG, doi. 10.1093/gigascience/giy064
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- Publication type:
- Article
Women's Work, Gender Roles, and Intimate Partner Violence in Nigeria.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Fight the Base, Recover the Base, Win the War!
- Published in:
- 2016
- By:
- Publication type:
- Opinion
Predicting Lodging Manager Annual Salary Based on Metropolitan Statistical Area Attributes and Lodging Industry Performance: Exploring the Concept.
- Published in:
- FIU Hospitality Review, 2014, v. 31, n. 4, p. 190
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- Publication type:
- Article
Betting Against the Glass Ceiling: Supervisor Gender & Employee Job Satisfaction in the Casino-Entertainment Industry.
- Published in:
- FIU Hospitality Review, 2014, v. 31, n. 4, p. 246
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- Publication type:
- Article
The impact of gender on urine C-peptide creatinine ratio interpretation.
- Published in:
- Annals of Clinical Biochemistry, 2012, v. 49, n. 4, p. 363, doi. 10.1258/acb.2011.011164
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- Publication type:
- Article
Automated analysis of embryonic gene expression with cellular resolution in C. elegans.
- Published in:
- Nature Methods, 2008, v. 5, n. 8, p. 703, doi. 10.1038/nmeth.1228
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- Publication type:
- Article