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Journal of Medical Genetics|February 1, 1996
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian familiesM R Passos-Bueno, E S Moreira, S K Marie, et al.
Oncotarget|December 20, 2017
Lung cancer mutation testing: a clinical retesting study of agreement between a real-time PCR and a mass spectrometry testPhillip Shepherd, Karen L Sheath, Sandar Tin Tin, et al.
Microarrays (Basel, Switzerland)|September 8, 2016
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating AtaxiaSarah L Nickerson, Renate Marquis-Nicholson, Karen Claxton, et al.
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.
Clinical Genetics|October 19, 2010
Family history, BRCA mutations and breast cancer in Vietnamese womenO M Ginsburg, N V Dinh, T V To, et al.
JIMD Reports|May 8, 2023
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of <i>CARS2</i>-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.
Molecular Ecology|July 27, 2001
Gene flow on the ice: genetic differentiation among Adélie penguin colonies around AntarcticaA D Roeder, R K Marshall, A J Mitchelson, et al.
American Heart Journal|March 31, 2015
Genetic markers of repolarization and arrhythmic events after acute coronary syndromesN J Earle, K K Poppe, A P Pilbrow, et al.
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