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The Journal of Clinical Endocrinology and Metabolism|June 17, 2023
Understanding the Genetics of Early-Onset Obesity in a Cohort of Children From QatarIdris Mohammed, Basma Haris, Tara Al-Barazenji, et al.
JIMD Reports|May 8, 2023
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial diseaseJessie Poquérusse, Melinda Nolan, David R Thorburn, et al.
Case Reports in Genetics|November 21, 2015
Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1Jessie C Jacobsen, Emma Glamuzina, Juliet Taylor, et al.
Internal Medicine Journal|July 19, 2019
Screening for anaplastic lymphoma kinase (ALK) gene rearrangements in non-small-cell lung cancer in New ZealandMark J McKeage, Sandar Tin Tin, Prashannata Khwaounjoo, et al.
Heart Rhythm|February 27, 2026
A Population-based study of trends in cardiac arrest and sudden death due to Long QT SyndromeAdrian J Tarca, Luciana D F Marcondes, Bryan L Mitchelson, et al.
Human Molecular Genetics|August 22, 2002
A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotypeTim Cundy, Madhuri Hegde, Dorit Naot, et al.
JACC. Clinical Electrophysiology|August 2, 2018
Clinical Outcomes and Modes of Death in Timothy Syndrome: A Multicenter International Study of a Rare DisorderKeith A Dufendach, Katherine Timothy, Michael J Ackerman, et al.
Heart Rhythm|October 18, 2023
Life-threatening cardiac arrhythmia and sudden death during electronic gaming: An international case series and systematic reviewClaire M Lawley, Matthew Tester, Shubhayan Sanatani, et al.
Circulation. Arrhythmia and Electrophysiology|October 8, 2009
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndromeTao Yang, Seo-Kyung Chung, Wei Zhang, et al.
Circulation|February 15, 2021
Sex-Related Differences in Cardiac Channelopathies: Implications for Clinical PracticeBabken Asatryan, Lauren Yee, Yael Ben-Haim, et al.
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