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Publications by C Mattocks
Automated Comparative Sequence Analysis Identifies Mutations in 89% of NF1 Patients and Confirms a Mutation Cluster in Exons 11-17 Distinct From the GAP Related Domain
Journal of Medical Genetics
Genetics
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Frequency and Clinical Significance of NF1 Mutation in Lung Adenocarcinomas From East Asian Patients
International Journal of Cancer
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Cluster Analysis in the COPDGene Study Identifies Subtypes of Smokers With Distinct Patterns of Airway Disease and Emphysema
Thorax
Pulmonary
Respiratory Medicine
Exome Sequencing of Cell-Free DNA From Metastatic Cancer Patients Identifies Clinically Actionable Mutations Distinct From Primary Disease
PLoS ONE
Multidisciplinary
Mutations in the CYP11B1 Gene Causing Congenital Adrenal Hyperplasia and Hypertension Cluster in Exons 6, 7, and 8.
Proceedings of the National Academy of Sciences of the United States of America
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Comparative Genomics Identifies Distinct Lineages of S. Enteritidis From Queensland, Australia
PLoS ONE
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Chromosomal Findings and Sequence Analysis of Target Exons of Calcium-Sensingreceptor (CaSR) Gene in Patients With Sagliker Syndrome
Turkish Journal of Medical Sciences
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A Search for Evidence of Somatic Mutations in the NF1 Gene
Journal of Medical Genetics
Genetics
Analysis of Resistant Mutations in Reverse Transcriptase Domain of Hepatitis B Virus From Patients From Islamabad, Pakistan
Journal of Unexplored Medical Data
Solitary Epicranial Neurofibroma With NF1-Related Germline Mutation: Case Report
Neurologia Medico-Chirurgica
Surgery
Neurology